부산대학교 도서관

Scala, M.; Wortmann, S.B.; Kaya, N.; Stellingwerff, M.D.; Pistorio, A.; Glamuzina, E.; van Karnebeek, C.D.; Skrypnyk, C.; Iwanicka-Pronicka, K.; Piekutowska-Abramczuk, D.; Ciara, E.; Tort, F.; Sheidley, B.; Poduri, A.; Jayakar, P.; Jayakar, A.; Upadia, J.; Walano, N.; Haack, T.B.; Prokisch, H.; Aldhalaan, H.; Karimiani, E.G.; Yildiz, Y.; Ceylan, A.C.; Santiago-Sim, T.; Dameron, A.; Yang, H.; Toosi, M.B.; Ashrafzadeh, F.; Akhondian, J.; Imannezhad, S.; Mirzadeh, H.S.; Maqbool, S.; Farid, A.; Al-Muhaizea, M.A.; Alshwameen, M.O.; Aldowsari, L.; Alsagob, M.; Alyousef, A.; Almass, R.; AlHargan, A.; Alwadei, A.H.; AlRasheed, M.M.; Colak, D.; Alqudairy, H.; Khan, S.; Lines, M.A.; Cazorla, M.; Ribes, A.; Morava, E.; Bibi, F.; Haider, S.; Ferla, M.P.; Taylor, J.C.; Alsaif, H.S.; Firdous, A.; Hashem, M.; Shashkin, C.; Koneev, K.; Kaiyrzhanov, R.; Efthymiou, S.; Genomics, Q.S.; Schmitt-Mechelke, T.; Ziegler, A.; Issa, M.Y.; Elbendary, H.M.; Striano, P.; Alkuraya, F.S.; Zaki, M.S.; Gleeson, J.G.; Barakat, T.S.; Bierau, J.; van der Knaap, M.S.; Maroofian, R.; Houlden, H.

Hum Mutat
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
Scala, M, Wortmann, S B, Kaya, N, Stellingwerff, M D, Pistorio, A, Glamuzina, E, van Karnebeek, C D, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, T B, Prokisch, H, Aldhalaan, H, Karimiani, E G, Yildiz, Y, Ceylan, A C, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, M B, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, H S, Maqbool, S, Farid, A, Al-Muhaizea, M A, Alshwameen, M O, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, A H, AlRasheed, M M, Colak, D, Alqudairy, H, Khan, S, Lines, M A, García Cazorla, M Á, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, M P, Taylor, J C, Alsaif, H S, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, Q S, Schmitt-Mechelke, T, Ziegler, A, Issa, M Y, Elbendary, H M, Striano, P, Alkuraya, F S, Zaki, M S, Gleeson, J G, Barakat, T S, Bierau, J, van der Knaap, M S, Maroofian, R & Houlden, H 2022, 'Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency', Human Mutation, vol. 43, no. 3, pp. 403-419. https://doi.org/10.1002/humu.24326
Human Mutation, 43, 3, pp. 403-419

Kröll-Hermi A; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany.; Stoetzel C; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Etard C; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany.; Halabelian L; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.; Schaefer E; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Scheidecker S; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Payman J; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Geoffroy V; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Prasad M; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Obringer C; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Ruch L; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Girard A; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.; Zeng H; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada.; Li F; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada.; Plassard D; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France; Plateforme GenomEast, Infrastructure France Génomique, Strasbourg, France.; Keime C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France; Plateforme GenomEast, Infrastructure France Génomique, Strasbourg, France.; Mattioli F; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.; Feger C; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Piton A; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France.; Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Castro MAA; Unidade de Genetica, Instituto da Crianca, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.; Ae KC; Unidade de Genetica, Instituto da Crianca, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.; Ruaud L; Université de Paris, UMR 1141 NEURODIDEROT, INSERM, Département de Génétique, Hôpital Universitaire Robert Debré, APHP Nord, Paris, France.; Levy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.; Dozières B; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, Paris, France.; Tabet AC; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, Paris, France; Neuroscience Department, Génétique Humaine et Fonction Cognitive Unit, Pasteur Institute, Paris, France.; Wentzensen IM; GeneDx Inc., Gaithersburg, MD 20877, USA.; Santiago-Sim T; GeneDx Inc., Gaithersburg, MD 20877, USA.; Yusupov R; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Smeland MF; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Alkhunaizi E; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Cowing G; McMaster University Medical Center, Hamilton, ON, Canada.; Li C; McMaster University Medical Center, Hamilton, ON, Canada.; Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud UMC, Nijmegen, the Netherlands.; Feichtinger RG; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Gonorazky H; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada.; Jing G; Department of Pediatric Neurology, West China Second University Hospital, Sichuan University, Chengdu, China.; Wang X; Cipher Gene Ltd., Beijing, China.; Wang J; Cipher Gene Ltd., Beijing, China.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Grinstein L; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Ruiz A; Genetics Laboratory, Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.; Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.; Kampmeier A; Institute of Human Genetics, University Medical Center Essen, University of Duisburg-Essen, Essen, Germany.; Kassel O; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany.; Kuechler A; Institute of Human Genetics, University Medical Center Essen, University of Duisburg-Essen, Essen, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Woerner A; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Idleburg M; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Kircher SG; Institute of Medical Genetics, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria.; Laccone F; Institute of Medical Genetics, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria.; Golob B; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.; Peterlin B; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.; Čuturilo G; University Children's Hospital Belgrade, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Tasic V; University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia.; Kolvenbach CM; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Ramos LLP; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo 01308-000, Brazil; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 04013-000, Brazil.; Kok F; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo 01308-000, Brazil; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 04013-000, Brazil.; Buck CB; School of Medicine, Anhembi Morumbi University, Piracicaba, Sao Paulo 13425-380, Brazil.; van de Laar IMBH; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.; de Man SA; Department of Pediatrics, Amphia Hospital, Breda, the Netherlands.; Taşdelen E; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye.; Sezer A; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye.; Büke A; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye.; Yavuz Z; Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.; Çomoğlu SS; Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.; Costin C; Genetic Center, Akron Children's Hospital, Akron, OH, USA.; Tran Mau Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; INSERM UMR1231 GAD, 21000 Dijon, France.; Lacaze E; Department of Medical Genetics, Le Havre Hospital, Le Havre, France.; Courtin T; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.; Héron D; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.; Keren B; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.; Whalen S; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France.; Roume J; Department of Clinical Genetics, Centre de Référence 'AnDDI Rares', Poissy Hospital GHU PIFO, Poissy, France.; Yang Y; Department of Cancer Genetics and Epigenetics, Beckman Research Institute, City of Hope Cancer Center, Duarte, CA, USA.; Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Arrowsmith CH; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada; Princess Margaret Cancer Centre and Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 2M9, Canada.; Strähle U; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany; Centre for Organismal Studies (COS), University of Heidelberg, Im Neuenheimer Feld 223, 69120 Heidelberg, Germany.; Dollfus H; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Centre de Référence pour les affections rares en génétique ophtalmologique (CARGO), Filière SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: dollfus@unistra.fr.; Muller J; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada; Unité Fonctionnelle de Bioinformatique Médicale appliquée au diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: jeanmuller@unistra.fr.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

den Hoed, J.; de Boer, E.; Voisin, N.; Dingemans, A.J.M.; Guex, N.; van de Wiel, L.J.M.; Nellaker, C.; Amudhavalli, S.M.; Banka, S.; Bena, F.S.; Ben-Zeev, B.; Bonagura, V.R.; Bruel, A.L.; Brunet, T.; Brunner, H.G.; Chew, H.B.; Chrast, J.; Cimbalistienė, L.; Coon, H.; Délot, E.C.; Démurger, F.; Denommé-Pichon, A.S.; Depienne, C.; Donnai, D.; Dyment, D.A.; Elpeleg, O.; Faivre, L.; Gilissen, C.F.; Granger, L.; Haber, B.; Hachiya, Y.; Abedi, Y.H.; Hanebeck, J.; Hehir-Kwa, J.Y.; Horist, B.; Itai, T.; Jackson, A.; Jewell, R.; Jones, K.L.; Joss, S.; Kashii, H.; Kato, M.; Kattentidt-Mouravieva, A.A.; Kok, F.; Kotzaeridou, U.; Krishnamurthy, V.; Kučinskas, V.; Kuechler, A.; Lavillaureix, A.; Liu, P; Manwaring, L.; Matsumoto, N.; Mazel, B.; McWalter, K.; Meiner, V.; Mikati, M.A.; Miyatake, S.; Mizuguchi, T.; Moey, L.H.; Mohammed, S; Mor-Shaked, H.; Mountford, H.; Newbury-Ecob, R.; Odent, S.; Orec, L.; Osmond, M.; Palculict, T.B.; Parker, M.; Petersen, A.K.; Pfundt, R.P.; Preikšaitienė, E.; Radtke, K.; Ranza, E.; Rosenfeld, J.A.; Santiago-Sim, T.; Schwager, C.; Sinnema, M.; Snijders Blok, L.; Spillmann, R.C.; Stegmann, A.P.A.; Thiffault, I.; Tran, L.; Vaknin-Dembinsky, A.; Vedovato-Dos-Santos, J.H.; Schrier Vergano, S.A.; Vilain, E.; Vitobello, A.; Wagner, M.; Waheeb, A.; Willing, M.; Zuccarelli, B.; Kini, U.; Newbury, D.F.; Kleefstra, T.; Reymond, A.; Fisher, S.E.; Vissers, L.E.L.M.

American Journal of Human Genetics, 108, 2, pp. 346-356
The American Journal of Human Genetics
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A J M, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S M, Banka, S, Bena, F S, Ben-Zeev, B, Bonagura, V R, Wellcome Trust Sanger Institute, Bruel, A L, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, Délot, E C, Démurger, F, Denommé-Pichon, A S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Snijders Blok, L, Spillmann, R C, Stegmann, A P A, Thiffault, I, Tran, L, Vaknin-Dembinsky, A, Vedovato-dos-Santos, J H, Schrier Vergano, S A, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M, Zuccarelli, B, Kini, U, Newbury, D F, Kleefstra, T, Reymond, A, Fisher, S E & Vissers, L E L M 2021, ' Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction ', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356 . https://doi.org/10.1016/j.ajhg.2021.01.007
Am. J. Hum. Genet. 108, 346-356 (2021)
DDD Study 2021, 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356. https://doi.org/10.1016/j.ajhg.2021.01.007
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S, Banka, S, Bena, F, Ben-Zeev, B, Bonagura, V, Bruel, A, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, study, T DDD, Délot, E C, Démurger, F, Denommé-Pichon, A-S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Blok, L S, Spillmann, R C, Stegmann, A P A, Thiffault, I, Tran, L, Vaknin-Dembinsky, A, Vedovato-dos-Santos, J H, Schrier Vergano, S A, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M C, Zuccarelli, B D, Kini, U, Newbury, D F, Kleefstra, T, Reymond, A, Fisher, S E & Vissers, L E L M 2020 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction' bioRxiv, pp. 1-24. https://doi.org/10.1101/2020.10.23.352278
American Journal of Human Genetics, vol 108, iss 2

Vincenzo Salpietro; Christine L. Dixon; Hui Guo; Oscar D. Bello; Jana Vandrovcova; Stephanie Efthymiou; Reza Maroofian; Gali Heimer; Lydie Burglen; Stephanie Valence; Erin Torti; Moritz Hacke; Julia Rankin; Huma Tariq; Estelle Colin; Vincent Procaccio; Pasquale Striano; Kshitij Mankad; Andreas Lieb; Sharon Chen; Laura Pisani; Conceicao Bettencourt; Roope Männikkö; Andreea Manole; Alfredo Brusco; Enrico Grosso; Giovanni Battista Ferrero; Judith Armstrong-Moron; Sophie Gueden; Omer Bar-Yosef; Michal Tzadok; Kristin G. Monaghan; Teresa Santiago-Sim; Richard E. Person; Megan T. Cho; Rebecca Willaert; Yongjin Yoo; Jong-Hee Chae; Yingting Quan; Huidan Wu; Tianyun Wang; Raphael A. Bernier; Kun Xia; Alyssa Blesson; Mahim Jain; Mohammad M. Motazacker; Bregje Jaeger; Amy L. Schneider; Katja Boysen; Alison M. Muir; Candace T. Myers; Ralitza H. Gavrilova; Lauren Gunderson; Laura Schultz-Rogers; Eric W. Klee; David Dyment; Matthew Osmond; Mara Parellada; Cloe Llorente; Javier Gonzalez-Peñas; Angel Carracedo; Arie Van Haeringen; Claudia Ruivenkamp; Caroline Nava; Delphine Heron; Rosaria Nardello; Michele Iacomino; Carlo Minetti; Aldo Skabar; Antonella Fabretto; SYNAPS Study Group; Miquel Raspall-Chaure; Michael Chez; Anne Tsai; Emily Fassi; Marwan Shinawi; John N. Constantino; Rita De Zorzi; Sara Fortuna; Fernando Kok; Boris Keren; Dominique Bonneau; Murim Choi; Bruria Benzeev; Federico Zara; Heather C. Mefford; Ingrid E. Scheffer; Jill Clayton-Smith; Alfons Macaya; James E. Rothman; Evan E. Eichler; Dimitri M. Kullmann; Henry Houlden

Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)

Aarabi, Bizhan, MD, FRCSC; Abbott, Rick, MD; Abd-El-Barr, Muhammad M., MD, PhD; Abel, Taylor J., MD; Abou-Al-Shaar, Hussam, MD; Acar, Feridun, MD; Achey, Rebecca L., MD; Ackerman, Laurie L., MD, MA; Adappa, Nithin D., MD; Adelson, P. David, MD, FACS, FAAP; Agarwal, Nitin, MD; Aguirre-Padilla, David H., MD; Ahluwalia, Manmeet S., MD; Ahmad, Shahjehan, MD, MPH; Ahmed, A. Karim, MD; Ahmed, Raheel, MD, PhD; Aisiku, Imoigele P., MD, MSCR, MBA, FCCP; Akbar, Muhammad A., MD; Akram, Harith, MBChB, PhD, FRCS (Neuro.Surg); Alaraj, Ali, MD; Albrecht, Jennifer S., PhD; Albuquerque, Felipe C., MD; Alexander, Michael J., MD; Alexandrov, Andrei V., MD; Alexopoulos, Andreas V., MD, MPH; Ali, Zarina S., MD, MS; Al-Khalili, Kenan, MD; Al-Mefty, Ossama, MD; Al-Mefty, Rami O., MD; Alnahhas, Iyad, MD, MSc; Alrobaian, Malek, MD; Al-Saiegh, Fadi, MD; Alterman, Ron L., MD, MBA; Altshuler, David B., MD, MS; Amenta, Peter S., MD; Ames, Christopher P., MD; Amin-Hanjani, Sepideh, MD; Ammirati, Mario, MD, MBA; Andaluz, Norberto, MD, MBA, FACS; Anderson, Richard C.E., MD, FACS, FAAP; Andrade, Pablo, MD, PhD; Ares, William J., MD; Arle, Jeffrey E., MD, PhD, FAANS; Arnaout, Omar, MD; Arnold, Paul M., MD, FACS; Assina, Rachid, RPh, MD; Aszmann, Oskar C., MD, PhD; Attenello, Frank J., III, MD, MS; Attia, Albert, MD; Avellino, Anthony M., MD, MBA; Awad, Issam A., MD, MSc, FACS; Ayantayo, Temitayo O., MB, BS; Bader, Edward R., MBChB; Badhiwala, Jetan H., MD; Baehring, Joachim M., MD, DSc; Bagic´, Anto I., MD, PhD; Bagley, Stephen J., MD, MSCE; Bai, Michael Y.; Bailes, Julian E., MD; Bain, Mark, MD, MS; Baker, Turner, PhD Candidate; Ball, Perry A., MD; Ballester, Leomar Y., MD, PhD; Balu, Ramani, MD, PhD; Ban, Vin Shen, MB, BChir, MRCS, MSc; Barak, Tanyeri, MD; Baranoski, Jacob F., MD; Barbaro, Nicholas M., MD; Barber, Sean M., MD; Barker, Frederick G., II, MD; Barnett, Gene H., MD, MBA; Barone, Constance M., MD, FACS; Barrow, Daniel Louis, MD; Basma, Jaafar, MD; Batchelor, Tracy T., MD; Batjer, H. Hunt, MD, FAANS, FACS; Beattie, Michael S., PhD; Beaumont, Andrew, MD, PhD; Beaumont, Thomas L., MD, PhD; Bederson, Joshua B., MD; Belani, Puneet, MD; Belzberg, Allan J., MD, FRCSC; Benet, Arnau, MD; Ben-Haim, Sharona, MD; Berenstein, Alejandro, MD; Berga, Sarah L., MD; Berger, Mitchel S., MD; Bergsneider, Marvin, MD; Bernstock, Joshua D., MD, PhD, MPH; Bhatia, Sanjay, MBBS, MCh; Bi, Wenya Linda, MD, PhD; Bigder, Mark G., MD, MPH; Bijlenga, Philippe, MD, PhD; Bingaman, William, MD; Birk, Harjus S., MD; Bishop, Allen T., MD; Blakeley, Jaishri O., MD; Blomstedt, Patric, MD, PhD; Blue, Rachel, MD; Blumenthal, Scott, MD; Boaro, Alessandro, MD; Boddu, James V., MD; Bohnen, Angela, MD; Bok, Arnold P., MBChB, MMed, FCSSA, FRACS; Boone, Myles D., MD, MPH; Boop, Frederick A., MD; Boszczyk, Bronek M., PD Dr.med.; Bowyer, Susan M., PhD; Brahimaj, Bledi C., MD; Brem, Henry, MD; Brem, Steven, MD; Bresnahan, Jacqueline C., PhD; Brinjikji, Waleed, MD; Brinkmann, Benjamin H., PhD; Brînzeu, Andrei, MD, MSc, PhD; Britz, Gavin W., MD, MPH, MBA; Brockmeyer, Douglas L., MD, FAAP; Brown, Desmond A., MD; Brown, Justin M., MD; Brown, Matthew T., MD; Brown, Robert D., Jr., MD, MPH; Bruce, Jeffrey N., MD, FACS; Bruckman, Karl C., MD, DDS; Bruhat, Alexis, MS, MBE; Brunstrom-Hernandez, Janice E., MD; Brunswick, Andrew, MD; Bruzek, Amy K., MD, MS; Buchanan, Ian A., MD; Budohoski, Karol P., MD, PhD; Buell, Thomas J., MD; Büki, András, MD, PhD, DSc; Bunevicius, Adomas, MD, PhD; Burchiel, Kim J., MD, FACS; Bydon, Mohamad, MD; Byrne, Richard W., MD; Cabrejo, Raysa, MD, MHS; Cabrilo, Ivan, MD; Cahill, Daniel P., MD, PhD; Caplan, Justin M., MD; Carlson, Andrew P., MD, MS-CR; Carrión-Penagos, Julián, MD; Carroll, Benjamin W., MD, MDiv; Cascino, Gregory D., MD; Castaneyra-Ruiz, Leandro, PhD; Castinetti, Frederic, MD, PhD; Cavalcanti, Daniel D., MD, PhD; Cawley, C. Michael, MD; Cernak, Ibolja, MD, PhD, ME, MHS; Cetas, Justin S., MD, PhD; Chan, Michael D., MD; Ka-Ying Chan, Vivien, MD; Chang, Chih-Chang, MD; Chang, Louis, MD; Chang, Steven D., MD; Charbel, Fady T., MD; Charest-Morin, Raphaële, MD, FRCSC; Chari, Aswin, MA, BMBCh, MRCS; Chaudhary, Navjot, MD; Chauvel, Patrick, MD; Chen, Kevin S., MD; Chen, Liang, MD, PhD; Cheng, Joseph, MD, MS; Cherian, Jacob, MD; Cheung, Kenneth M.C., MBBS(UK), MD(HK), FRCS, FHKCOS, FHKAM(Orth); Cheyuo, Cletus, MD, PhD; Chiang, Veronica L., MD; Chiarelli, Peter A., MD, DPhil; Chiocca, E. Antonio, MD, PhD, FAANS; Chitale, Rohan V., MD; Cho, Catherine, MD, MSCR; Choi, Heejung, MD, D.ABA; Chou, Dean, MD; Christian, Cindy W., MD; Christiansen, Peter A., MD; Church, Ephraim W., MD; Clarke, Jennifer L., MD, MPH; Cleary, Daniel R., MD, PhD; Clune, James E., MD; Cohen, Justin D., MD; Cohen-Inbar, Or, MD PhD; Colasanti, Roberto, MD; Collins, John M., MD, PhD; Comair, Youssef G., MD, FRCSC; Conner, Andrew K.P., MD; Connolly, E. Sander, Jr., MD, FACS; Cooper, Jared B., MS, MD; Corcos, Daniel Montie, PhD, MA, MS, BEd; Coric, Domagoj, MD; Costa, Anthony B., PhD; Couldwell, William T., MD, PhD; Crino, Peter B., MD, PhD; Crofton, Andrew R., PhD; Cullen, D. Kacy, PhD; Curt, Armin, MD, FRCPC; Dacey, Ralph G., Jr., MD, FACS, FRCSI (Hon); Daci, Rrita, MD; Dailey, Andrew T., MD; D’Alessandris, Quintino Giorgio, MD, PhD; Damisah, Eyiyemisi C., MD, MHS; Daniels, David J., MD, PhD; Das, Sunit, MD, PhD; Davanzo, Justin R., MD; David, Carlos A., MD; David, David J., MD, FRCSE, FRCS, FRACS, FRCST; Davidson, Benjamin, MD; Davis, Gavin A., MB.BS., FRACS(Neurosurgery); Day, Arthur L., MD; Dea, Nicolas, MD, MSc, FRCSC; De Donato, Giuseppe, MD; Deiner, Stacie, MD; De la Garza, Carlos, MD; Delavari, Nader, MD; Del Brutto, Oscar H., MD; Delman, Bradley N., MD, MS; DeLong, Mahlon R., MD; DeMonte, Franco, MD, FRCSC, FACS; de Oliveira, Evandro, MD; Derman, Peter B., MD, MBA; Desai, Arati, MD; Deshpande, Krutika, MS; Diaz, Michele, RN, MS; Diaz-Arrastia, Ramon R., MD, PhD; DiGiorgio, Anthony M., DO, MHA; DiLuna, Michael L., MD, FAANS; DiMeco, Francesco, MD; Dlouhy, Brian J., MD; Doğruel, Yücel, MD; Donahue, Joseph H., MD; Donoho, Daniel A., MD; Doshi, Amish H., MD; Dreier, Jens P., MD; Driver, Joseph, MD; Drofa, Alexander, MD, FRCSC; Ducruet, Andrew F., MD; Duffau, Hugues, MD, PhD; Duhaime, Ann-Christine, MD; Dumont, Aaron S., MD; Duncan, John S., DM, FRCP, FMedSci; Dunn, Gavin P., MD, PhD; Dunn, Ian F., MD; Eberwine, James H., PhD; Eckardt, Gerald W., MD; Edem, Idara J., MD, MSc, FRCSC; Edwards, Michael S.B., MD; Egemen, Emrah, MD, FEBNS; Eisenbarth, Rachel, BS; Eisenberg, Howard, MD; Elder, J. Bradley, MD; Elhammady, Mohamed Samy, MD; Elias, W. Jeffrey, MD; Ellingson, Benjamin M., PhD; Ellis, Jason A., MD; Elswick, Clay M., MD; Emch, Todd M., MD; Emerson, Samuel, MD, PhD; Ene, Chibawanye I., MD, PhD; Englot, Dario J., MD, PhD; Erdman, John H., III, BA; Eskandari, Ramin, MD, MS; Essayed, Walid Ibn, MD; Everson, Richard G., MD; Fadul, Camilo E., MD, FAAN; Fan, Yi, MD, PhD; Farina, Dario, PhD; Farrell, Christopher J., MD; Feghali, James, MD; Fehlings, Michael G., MD, PhD, FRCSC, FACS; Fehnel, Katie Pricola, MD; Feigin, Valery L., MD, PhD, FAAN, FRSNZ, FRAS; Feldman, Eva L., MD, PhD; Feldman, Michael J., MD; Feldstein, Neil, MD, FACS; Fenno, Lief E., MD, PhD; Ferguson, Adam R., MS, PhD; Feroze, Abdullah H., MD; Fessler, Richard G., MD, PhD; Filler, Aaron G., MD, PhD, JD, FRCS; Findlay, J. Max, MD, PhD; Finn, Michael A., MD; Finnell, Richard H., PhD, DABMGG; Fisher, Charles G., MD, MHSc, FRCSC; Flamm, Eugene S., MD; Flanders, Tracy M., MD, MSCE; Flemming, Kelly D., MD; Flores-Sarnat, Laura, MD; Follett, Kenneth A., MD, PhD; Fontes, Ricardo B.V., MD, PhD; Ford, Paul J., PhD; Foreman, Brandon P., MD, MS; Foreman, Paul M., MD; Fornoff, Linden E., MD; Fouda, Mohammed A., MD; Foyouzi, Nastaran, MD, PhD; Franco, Daniel, MD; Franzini, Andrea, MD; Fridley, Jared S., MD; Friedlander, Robert M., MD, MA; Frisoli, Fabio A., MD; Fry, Donald E., MD, FACS; Gregory Fu, Kai-Ming, MD, PhD; Fujita, Naohide, MD; Fulbright, Robert K., MD; Fulkerson, Daniel H., MD; Fuller, Gregory N., MD, PhD; Fusco, Matthew R., MD; Galanopoulou, Aristea S., MD, PhD; Gallagher, Gary W., MD; Galvan, Adriana, PhD; Gander, Phillip E., PhD; Gandhi, Chirag D., MD, FACS, FAANS; Gao, Guoyi, MD, PhD; Garcia, Hector H., MD, PhD; García, Paul S., MD, PhD; Gardner, Paul A., MD; Gardner, Raquel C., MD; Garzon-Muvdi, Tomas, MD, MSc; Gavin, Cormac G., MB, BCh, BAO, FRCS(I), FRCS(SN); Gea-Banacloche, Juan C., MD; George, Timothy M., MD; Georgoulis, George D., MD; Gerard, Carter S., MD; Gerety, Patrick A., MD; Gerszten, Kristina, MD; Gerszten, Peter C., MD, MPH, FACS; Ghaith, Abdul Karim, MD; Ghatan, Saadi, MD; Ghobrial, George M., MD; Ghogawala, Zoher, MD, FACS; Ghosh, Chaitali, PhD; Giacino, Joseph T., PhD; Giacobbe, Peter, MD, MSc, FRCPC; Gianaris, Thomas J., MD; Giannotta, Steven L., MD; Giglio, Pierre, MD; Gilad, Ronit, MD, FAANS; Gill, Brian J.A., MD; Gillick, John L., MD; Gilmer, Holly S., MD; Gjedde, Albert H., MD, DSc; Glenn, Chad A., MD; Godil, Saniya S., MD; Goel, Atul, M.Ch. (Neurosurgery); Gokaslan, Ziya L., MD, FAANS, FACS; Goldberg, Jacob L., MD; Goldstein, Hannah E., MD; Golub, Danielle, MD, MSCI; Gonzalez, Glenn A., MD; Gonzalez-Martinez, Jorge Á., MD, PhD, FAANS; Goodden, John R., MBBS (Lond), FRCS (Neuro, Surg.); Goodman, J. Clay, MD, FAAN; Goodrich, James Tait, MD, PhD, DSci (Hon); Goodwin, C. Rory, MD, PhD; Gordon, David S., MD; Gottfried, Oren N., MD; Goumnerova, Liliana C., MD; Goyal, Anshit, MBBS, MS; Grady, M. Sean, MD; Graffeo, Christopher S., MD, MS; Grafman, Jordan H., PhD; Gragnaniello, Cristian, MD, PhD, MSurg, MAdvSurg; Grande, Andrew W., MD; Grant, Gerald A., MD, FACS; Grebenciucova, Elena, MD; Greenfield, Jeffrey, MD, PhD; Grimaudo, Heather C., MD; Groff, Michael W., MD; Gross, Robert E., MD, PhD; Grossman, Rachel, MD; Groves, Mari L., MD; Gstoettner, Clemens, MD; Guenette, Jeffrey P., MD; Günel, Murat, MD, FACS, FAHA; Gupta, Nalin, MD, PhD; Gutman, Matthew J., MBBS (Hons), FRACS; Guyer, Richard D., MD; Hachem, Laureen D., MD; Haddad, Georges F., MD, FRCS(C); Hadjipanayis, Constantinos G., MD, PhD; Hafez, Daniel M., MD, PhD; Hagan, John P., PhD; Haglund, Michael M., MD, PhD, MACM; Haines, Stephen J., MD; Haldeman, Clayton L., MD, MHS; Halvorson, Kyle G., MD; Hamberger, Marla J., PhD; Hamdi, Hussein, MD, PhD; Hamilton, D. Kojo, MD, FAANS; Hamilton, Kimberly M., MD; Hamilton, Mark G., MDCM, FRCSC, FAANS; Hankinson, Todd C., MD, MBA; Haq, Ihtsham ul, MD; Harbaugh, Robert E., MD, FAANS, FACS, FAHA; Hardesty, Douglas A., MD; Hardigan, Trevor, MD, PhD; Hariz, Marwan, MD, PhD; Harrigan, Mark R., MD; Harrop, James S., MD; Hartings, Jed A., PhD; Härtl, Roger, MD; Harward, Stephen C., II, MD, PhD; Hasbun, Rodrigo, MD, MPH, FIDSA; Hawryluk, Gregory W.J., MD, PhD, FRCSC; Hayman, Erik, MD; Hayward, Richard D., MBBS, FRCS (Eng); He, Lucy, MD; Healy, Andrew T., MD; Heary, Robert F., MD, FAANS; Heiden, Petra, MD; Heinricher, Mary M., PhD; Heller, Robert S., MD; Retel Helmrich, Isabel R.A., MSc; Helmy, Adel, MA MB, BChir, FRCS(SN), PhD; Heman-Ackah, Sabrina M., MD, DPhil; Hendricks, Benjamin K., MD; Herendeen, John S., BS; Heros, Roberto C., MD; Herrup, Karl, PhD; Hervey-Jumper, Shawn L., MD, FAANS; Heuer, Gregory G., MD, PhD; Heyer, Eric J., MD, PhD; Higuchi, Yoshinori, MD, PhD; Hillary, Frank G., PhD; Ho, Winson S., MD; Hoang, Nguyen, MD, MS; Hoang, Stanley, MD; Hoelscher, Christian, MD; Hoffer, S. Alan, MD; Hofstetter, Christoph, MD, PhD; Holland, Eric C., MD, PhD; Holland, Ryan M., MD; Holste, Katherine, MD; Hongo, Kazuhiro, MD, PhD; Horisawa, Shiro, MD; Horner, Philip J., PhD; Howard, Matthew A., III, MD; Hsueh, Brian, AB; Huang, Judy, MD; Huang, Kevin T., MD; Huang, Michael C., MD; Huang, Raymond Y., MD, PhD; Hudgins, Eric, MD, PhD; Huguenard, Anna, MD; Hunt, Matthew A., MD; Hurlbert, R. John, MD, PhD, FRCSC, FACS; Hussein, Ahmed E., MD; Hutchinson, Peter J., MBBS, PhD, FRCS (Surg Neurol); Huttner, Anita, MD; Huys, Daniel, MD; Hwang, Steven W., MD; Iaccarino, Mary A., MD; Ibrahim, Mohab, MD, PhD; Iliff, Jeffrey J., PhD; Ilyas, Adeel, MD; Ingram, Susan L., PhD; Isaacs, Albert M., MD, PhD; Isaias, Ioannis U., MD, PhD; Iskandar, Bermans J., MD; Iyer, Aditya K., MD, MS; Jabbour, Pascal, MD; Jackson, Christopher M., MD; Jadhav, Ashutosh P., MD, PhD; Jakobs, Martin, MD; Jallo, George I., MD; Jane, John A., Jr., MD; Janigro, Damir, PhD, FAES; Jankowitz, Brian T., MD; Jea, Andrew, MD, MHA, FACS, FAAP; Jehi, Lara, MD; Jellinger, Kurt A., MD; Jenson, Amanda V., MD; Jho, Diana, MD, MS; Jiang, Bowen, MD; Jiang, Fan, MDCM, FRCSC; Jimenez, David F., MD, FACS; Jimenez, Lincoln, MD, MBA; Jin, Haiyan, MD; Jo, Jasmin T., MD; Johanson, Conrad E., PhD; Johnson, Luke A., PhD; Johnson, Mark D., MD, PhD; Johnson, Nathaniel, BA; Jones, Adrian C., MB, ChB, DM, FRCP; Jones, Kristen E., MD, FAANS; Jones, Tuckerman, BS; Joseph, Jacob R., MD; Joshi, Krishna C., MD, MCh; Joshi, Rushikesh S., BS; Jovin, Tudor G., MD; Julian, Alex, BS; Juraschka, Kyle, MD; Abdo do Seixo Kadri, Paulo, MD; Kalani, M. Yashar S., MD, PhD; Kalanithi, Paul S.A., MD; Kalfas, Iain H., MD, FACS; Kalnins, Aleksandrs Uldis, MD, MBA; Kamath, Ashwin A., MD; Kanev, Paul M., MD, MS; Kang, Daniel G., MD; Kang, James D., MD; Kanter, Adam S., MD, FAANS; Kaplitt, Michael G., MD, PhD; Kappel, Ari D., MD; Karikari, Isaac, MD; Karsy, Michael, MD, PhD, MSc; Kasliwal, Manish K., MD, MCh, FAANS; Kaufmann, Anthony M., MD, MSc, FRCSC, FACS; Kawasaki, Hiroto, MD; Kellner, Christopher P., MD; Kelly, Alexander P., BA; Kemeny, Andras A., MD, FRCS; Kestle, John R.W., MD, FACS; Khalsa, Siri S., MD; Khan, Imad S., MBBS; Khan, Nadia, MD; Khan, Tariq, MBBS, FRCS I; Khanna, Omaditya, MD; Khanna, Ryan, MD, MBA, MSCI; Kigerl, Kristina A., PhD; Kim, Dong H., MD; Kim, Louis J., MD; Kim, Paul K., MD; Kim, Thomas A., MD, MBA; Kim, Won, MD; Kirnaz, Sertaç, MD; Kirsch, Wolff, MD; Kitchen, Neil D., MD, FRCS; Klein, Joshua P., MD, PhD; Kliot, Michel, MD, MA; Knightly, John J., MD; Knisely, Jonathan, MD, FASTRO; Knopman, Jared, MD; Ko, Andrew L., MD; Kobayashi, Katsuya, MD, PhD; Kobets, Andrew J., MD, MHS; Koch, Matthew J., MD; Kocharian, Gary, BA; Koerner, John D., MD; Kohara, Kotaro, MD; Kohn, Max, BS; Kolias, Angelos G., MD, PhD, FRCS (SN); Koo, Clara S., MD; Kosztowski, Thomas, MD; Kotecha, Rupesh R., MD; Kovach, Christopher K., PhD; Kraemer, Mark R., MD; Krauss, Joachim K., MD; Krieg, Sandro M., MD, MBA; Krieger, Mark D., MD; Krishnaney, Ajit A., MD; Ksendzovsky, Alexander, MD, PhD; Kulkarni, Abhaya V., MD, PhD, FRCSC; Vijay Kumar, Gomatam R., MBBS, FRCS(Eng), FRCS(Neurosurgery); Kumar, Sachin A., MD, PhD; Kung, David K., MD; Kuo, Jeffrey V., MD, MA; Kvint, Svetlana, MD; Kwan, Kenny, BMBCh(Oxon), FRCSEd(Orth), FHKCOS, FHKAM(Orth); Issa Laack, Nadia N., MD, MS; Ladner, Travis R., MD; Lafage, Renaud, MS; Lafage, Virginie, PhD; Lam, Arthur M., MD, FRCPC, FNCS; Lamm, Adam G., MD, MA; Landazuri, Patrick, MD; Lanzino, Giuseppe, MD; Larson, Paul, MD; Lau, Catherine Y., MD; Lau, Darryl, MD; Lavine, Sean D., MD, FAANS; Lawler, Sean E., PhD; Laws, Edward R., Jr., MD; Lawton, Michael T., MD; Laxpati, Nealen G., MD, PhD; Lebed, Brett D., MD; Lee, Cheng-Chia, MD, PhD; Lee, Jonathan J., MD, MEdT; Lee, Ryan P., MD; Lee, Sangmi, PhD; Lehman, Ronald A., Jr., MD; Lenke, Lawrence G., MD; Le Roux, Peter D., MD, FACS, FNCS; Leuthardt, Eric C., MD; Levin, Emily, MD; Levy, Elad I., MD, MBA, FACS, FAHA; Lewis, Evan M., MD; Lhatoo, Samden, MD, FRCP(Lon); Li, Dianyou, MD, PhD; Li, Yingda, MBBS, FRACS, BMedSc, PGDipSurgAnat; Ching Ng, Angela Li, MBChB, MS (Neurosurgery); Liau, Linda M., MD, PhD, MBA; Liebenow, Brittany, BA; Lieberman, Isador H., MD, MBA; Limbrick, David D., Jr., MD, PhD; Lin, Emily, BA; Lin, Kant Y., MD; Lin, Zhengyu, MBBS, MSc; Lingsma, Hester F., PhD; Linskey, Mark E., MD; Lipsman, Nir, MD, PhD; Litvack, Zachary N., MD, MCR, FAANS; Liu, James K.C., MD; Liu, Kenneth C., MD, FAANS, FACS; Liu, Wei, MD, PhD; Lober, Robert M., MD, PhD; Lohkamp, Laura-Nanna, MD, MSc; Lonser, Russell R., MD; Louvi, Angeliki, PhD; Lozano, Andres M., MD, PhD; Lu, Victor M., MD, PhD; Luciano, Mark G., MD, PhD, FACS, FAANS; Lukas, Rimas V., MD; Luo, Lan, MD, MS; Ma, Lijun, PhD; Maas, Andrew I.R., MD, PhD; Macdonald, R. Loch, MD, PhD, FRCS(C), FACS, FAANS; Mack, William J., MD; Mackey, Kimberly A., MD; Macki, Mohamed, MD, MPH; MacLachlan, Lara S., MD; Madarash, Holly Oemke, BA; Madsen, Peter J., MD, MBE; Maegele, Marc, MD; Magistretti, Pierre J., MD, PhD; Mahan, Mark A., MD; Maher, Cormac O., MD; Mahtabfar, Aria, MD; Majeed, Kashif, MD; Makarenko, Serge, MD, FRCSC; Makley, Amy T., MD; Malessy, Martijn J.A., MD, PhD; Malik, Athar N., MD, PhD; Mallucci, Conor, MBBS, FRCS; Mambelli, Dorian D., MD; Mammi, Marco, MD; Mangano, Francesco T., DO, FACS, FAAP; Maniker, Allen H., MD, FAANS; Manley, Geoffrey T., MD, PhD; Manolidis, Spiros, MD; Maroon, Joseph C., MD; Martin, Alastair, PhD; Martin, Neil A., MD; Martirosian, Vahan, MS; Martirosyan, Nikolay L., MD, PhD; Maslink, Colin, MD; Massie, Lara, MD; Mathur, Amit M., MBBS, MD, MRCP (UK); Matias, Caio M., MD, PhD; Mauer, Kimberly M., MD; Maulucci, Christopher M., MD; Maurer, Robert K., MD; Mazur, Marcus D., MD; Mazwi, Nicole, MD; McAllister, James P., II, PhD; McClain, Craig D., MD, MPH; McCormack, Ryan M., MD, PhD; McCrea, Michael A., PhD; McCutcheon, Ian E., MD; McDermott, Michael W., MD; McDougall, Cameron G., MD, FRCSC; McDougall, Cameron M., MD, FRCS(C); McEvoy, Andrew W., MBBS, MD, FRCS(Lond), FRCS(SN); McGrath, Hari; McGrath, Lynn, Jr., MD; McKhann, Guy M., MD; McMahon, J. Tanner, BS; McPheeters, Matthew J., MD, MBA; Meaney, David F., PhD; Medel, Ricky, MD; Medress, Zachary, MD; Mehta, Minesh P., MbChB, FASTRO; Menacho, Sarah T., MD; Menezes, Arnold H., MD; Menon, David K., MBBS, MD, PhD, FRCP, FRCA, FFICM, FMedSci; Mergeche, Joanna L., MD; Meyer, Fredric B., MD; Meyer, Jenna; Meyer, Scott A., MD; Meyers, Philip M., MD, FACR, FSNIS, FSIR, FAHA; Midha, Rajiv, MD, MSc, FRCSC, FAANS; Miller, Charles A., MD; Miller, Jonathan P., MD, FAANS, FACS; Miller, Neil R., MD; Mirza, Farhan A., MD; Mirzadeh, Zaman, MD, PhD; Miserocchi, Anna, MD; Misra, Basant K., MBBS, MS, MCh, Diplomate National Board; Missios, Symeon, MD; Miyagishima, Danielle F., BA; Miyashiro, Kevin Y., BA; Mizuno, Junichi, MD, PhD; Mizuno, Shuichi, PhD; Mocco, J., MD, MS; Mohyeldin, Ahmed, MD, PhD; Mokin, Maxim, MD, PhD; Molinaro, Annette M., PhD, MS; Moliterno, Jennifer, MD, FAANS; Monteith, Stephen J., MD; Montenegro, Thiago S., MD; Mooney, Michael A., MD; Moosa, Shayan, MD; Morales, Diego M., MS; Morgan, Clinton D., MD; Morgan, Isabella, BEng; Morgan, Michael Kerin, DSc, MD, Hon PhD, MBBS, MMedEd, FRACS; Mortimer, Vance R.; Moss, Nelson, MD; Moss, S. David, MD; Mukherjee, Pratik, MD, PhD; Mummaneni, Praveen V., MD; Munich, Stephan A., MD; Muraszko, Karin, MD; Murthy, Saikiran G., DO; Mushlin, Harry, MD; Mussi, Antônio C.M., MD; Nagel, Sean J., MD; Nagy, Gábor, MD, PhD; Nair, Dileep R., MD; Najm, Imad M., MD; Nakaji, Peter, MD; Nakajima, Takeshi, MD, PhD; Nasser, Rani, MD; Nater, Anick, MD, PhD; Navarro, Jovany Cruz, MD; Nayak, Lakshmi, MD; Neira, Justin A., MD; Nelson, Lindsay D., PhD; Neman, Josh, PhD; Newell, David W., MD FAANS; Nguyen, James H., MD; Ngwenya, Laura Benjamin, MD, PhD; Nicolato, Antonio, MD; Nimjee, Shahid M., MD, PhD; Nishimura, Sayoko, MD, PhD; Niu, Tianyi, MD; Norris, Scott A., MD; Noureldine, Mohammad Hassan A., MD, MSc; Nurmikko, Turo J., MD, PhD; Nuwer, Marc R., MD, PhD; Oberheim-Bush, Nancy Ann, MD, PhD; Ochiai, Taku, MD, PhD; Oh, Nathan, DO; Oh, Taemin, MD; Okonkwo, David O., MD, PhD; Okun, Michael S., MD; Oldfield, Edward H., MD; Brigid O’Leary, Joanna Shawn, PhD; Olivi, Alessandro, MD; O’Neill, Francis, PhD, MBChB, FDS(OS)RCPS, FHEA; Oppenlander, Mark E., MD; Osbun, Joshua W., MD; O’Toole, John E., MD, MS; Özduman, Koray, MD; Ozpinar, Alp, MD; Pain, Margaret, MD; Palacios, Eva M., PhD; Palmer, James N., MD; Pamir, M. Necmettin, MD; Pamoukian, Vicken, MD, FACS; Panesar, Sandip S., MD, MSc; Panov, Fedor E., MD; Paramasivam, Srinivasan, MD, MCh, MRCS Ed, FINR; Park, Christine, BA; Park, Jon, MD, FRCSC; Park, Paul, MD; Park, T.S., MD; Parker, Whitney E., MD, PhD; Parsa, Andrew T., MD, PhD; Partington, Michael D., MD, MS, FAAP; Patel, Aman B., MD; Patel, Bhuvic, MD; Patel, Smruti K., MD; Patel, Vaibhav M., MD; Patil, Parag G., MD, PhD; Payne, Russell, MD; Peeters, Sophie M., MD; Pekmezci, Melike, MD; Pendharkar, Arjun V., MD; Penn, Richard Deren, MD; Pennicooke, Brenton H., MD, MS; Pennington, Zach, BS; Della Pepa, Giuseppe Maria, MD; Perin, Alessandro, MD, PhD; Perlmutter, Joel S., MD; Persing, J. Scott, MD, MPH; Persing, John A., MD; Persing, Sarah M., MD; Peters, Matthew E., MD; Petersen, Erika A., MD; Petrov, Dmitriy, MD; Pham, Martin, MD; Picht, Thomas, MD, PhD; Piepmeier, Joseph M., MD; Pikis, Stylianos, MD, MSc; Pilcher, Webster H., MD, PhD; Pinckard-Dover, Heather N., MD; Pineda, José A., MD, MSCI; Pinter, Joseph D., MD; Pisculli, Mary L., MD, MPH; Pittman, Thomas, MD; Plesnila, Nikolaus, MD, PhD; Pollack, Ian F., MD; Pollock, Bruce E., MD; Polly, David W., Jr., MD; Polster, Sean P., MD; Popovich, Phillip G., PhD; Post, Kalmon D., MD; Potts, Matthew B., MD; Pouratian, Nader, MD, PhD, FAANS, FACS; Powers, Alexander K., MD, FAANS; Prager, Briana C., BS; Prashant, Giyarpuram N., MD; Prestigiacomo, Charles J., MD, FAANS, FACS; Prevedello, Daniel M., MD; Proctor, Mark R., MD; Prolo, Laura M., MD, PhD; Prost, Robert W., PhD; Puduvalli, Vinay K., MD; Purger, David A., MD, PhD; Qualmann, Krista J., MS, CGC; Quiñones-Hinojosa, Alfredo, MD, FAANS, FACS; Raffa, Scott J., MD, MBA; Raghavan, Prashant, MBBS; Rahal, Jason Pierce, MD; Rajappa, Prajwal, MD, MS; Ram, Zvi, MD; Ranjan, Manish, MD; Rao, Ganesh, MD; M.S. Raper, Daniel, MBBS; Rapoport, Benjamin I., MD, PhD; Raskin, Jeffrey S., MS, MD, FAANS, FAAP; Raslan, Ahmed M., MD; Rasmussen, Peter, MD; Rasouli, Jonathan J., MD; Ravindra, Vijay M., MD, MSPH; Ray, Dibyendu K., MBBS, MS, MCh, Dip ESMINT; Ray, Wilson Z., MD; Raz, Eytan, MD; Raza, Shaan M., MD; Régis, Jean, MD; Reilly, Peter L., MBBS, BMedSc(hons), MD, FRACS, FFPMANZCA; Reith, Florence C.M., MD, PhD; Rennert, Robert C., MD; Resnick, Daniel K., MD, MS; Reynolds, Renée, MD; Rezai, Ali R., MD; Rhines, Laurence D., MD; Rhoton, Albert L., Jr., MD; Ribalta, Teresa, MD, PhD; Richardson, R. Mark, MD, PhD; Riggins, Gregory J., MD, PhD; Riina, Howard A., MD, MPHI; Rinaldo, Lorenzo, MD, PhD; Rincon-Torroella, Jordina, MD; Ringer, Andrew J., MD; Riva-Cambrin, Jay, MD; Rizk, Elias, MD, MSc; Robert, Stephanie M., MD, PhD; Robertson, Claudia, MD; Robertson, Jon H., MD; Robinson, Leslie C., MD, PharmD, MBA; Robinson, Michael W., MD, PhD; Robinson, Shenandoah, MD, FAAP, FACS; Roche, Aidan D., MBBS, PhD, BEng; Roche, Pierre-Hugues, MD; Rogg, Jeffrey M., MD; Roguski, Marie, MD, MPH; Roland, Jarod L., MD; Rolston, John D., MD, PhD; Rosenberg, William S., MD; Rosenow, Joshua M., MD, FAANS, FACS; Rosenthal, Guy, MD; Rosenwasser, Robert H., MD; Roser, Florian, MD, PhD; Rosner, Michael K., MD; Rosseau, Gail, MD, FACS, FAANS; Rossi, Vincent J., MD; Rovner, Eric S., MD; Rubiano, Andres M., MD, PhD, FACS, IFAANS; Rubio, Roberto Rodriguez, MD; Rucker, Janet C., MD; Rui, Yanning, PhD; Russin, Jonathan J., MD; Rutka, James T., MD, PhD; Saadeh, Yamaan S., MD; Saatian, Behnaz, PhD; Sack, Kenneth D., MD; Sader, Nicholas, MD; Safaee, Michael M., MD; Safain, Mina G., MD; Sagher, Oren, MD; Sahgal, Arjun, MD; Saigal, Rajiv, MD, PhD; Saito, Nobuhito, MD, PhD; Saleh, Mohamed, MD; Salinas, Ryan D., MD; Salminger, Stefan, MD, PhD; Samarage, H. Milan, MBBS, MRCS; Samdani, Amer F., MD; Sand, Lauren A., MD; Sani, Sepehr, MD; Sankaran, Sujatha, MD; Sansur, Charles A., MD, MHSc, FAANS; Santarius, Thomas, MD, PhD, FRCS (Surg Neurol); Santiago, Paul, MD; Santiago-Dieppa, David R., MD; Santiago-Sim, Teresa, PhD, FACMG; Sarkiss, Christopher A., MD; Sarnat, Harvey B., MS, MD, FRCPC; Sarris, Christina E., MD; Sather, Michael, MD, FAANS; Savastano, Luis E., MD, PhD; Sawaya, Raymond, MD; Schaller, Karl, MD; Schiff, Nicholas D., MD; Schipmann, Stephanie, MD; Schlachter, Leslie, PA-C; Schlesinger, David J., PhD; Schmidt, Franziska A., MD; Schmidt, Meic H., MD, MBA; Schneider, Lonnie, PhD; Schramm, Johannes, MD, PhD; Schuele, Stephan U., MD, MPH; Schulder, Michael, MD; Schupper, Alexander J., MD; Schwab, Frank J., MD; Schwartz, Theodore H., MD; Sciubba, Daniel M., MD; Scott, R. Michael, MD; Scullen, Tyler A., MD; Selden, Nathan R., MD, PhD, FACS, FAAP; Sellin, Jonathan N., MD; Selman, Warren R., MD; Sen, Chandranath, MD; Serizawa, Toru, MD, PhD; Serrone, Joseph C., MD; Sgubin, Donatella, MD, PhD; Shaffrey, Christopher I., MD; Shah, Kushal J., MD; Shah, Lubdha M., MD; Shah, Manish N., MD; Shahlaie, Kiarash, MD, PhD; Shapiro, Maksim, MD; Sharan, Ashwini, MD, FACS; Sharma, Deepak, MBBS, MD, DM; Sharma, Mohan R., MD; Sheehan, Jason P., MD; Sheehan, Jonas M., MD, FAANS, FACS; Sheikhi, Lila, MD; Shiflett, James M., MD; Shigamatsu, Tomoyoshi, MD, PhD; Shilpakar, Sushil Krishna, MD; Shils, Jay L., PhD, D.ABNM, FASNM, FACNS; Shimony, Nir, MD; Shin, Alexander Y., MD; Siddiqui, Adnan H., MD, PhD; Sidhu, Meneka K., MBChB, MRCP, PhD; Silveira, Luke A., MD; Silver, Jerry, PhD; Sindou, Marc, MD, DSc; Singh, Jeffrey M., MD, MSc, FRCPC; Singh, Manish K., MD; Sizdahkhani, Saman, MD; Skirboll, Stephen, MD; Slavin, Justin, MD; Smith, Brandon W., MD, MS; Smith, Edward R., MD; Smith, Justin S., MD, PhD; Smith, Kris A., MD; Smith, Luke G.F., MD; Smith, Timothy R., MD, PhD, MPH; Smith, Yoland, PhD; Solomon, David A., MD, PhD; Solomon, Robert A., MD; Soltys, Scott G., MD; Somji, Mohamed, MD; Sorenson, Jeffrey M., MD; Soriano, Sulpicio G., MD; Sorscher, Michelle, NP; Souweidane, Mark M., MD, FACS, FAAP; Spencer, Dennis D., MD; Spetzler, Robert F., MD; Spinazzi, Eleonora F., MD; Spinner, Robert J., MD; Sribnick, Eric A., MD, PhD; Srinivasan, Visish M., MD; Stabingas, Kristen, MD; Stapleton, Christopher J., MD; Starke, Robert M., MD, MSc; Starr, Philip, MD, PhD; St. Clair, Eric G., MD; Stedelin, Brittany, BS; Stefko, S. Tonya, MD; Steinberg, Gary K., MD, PhD; Stern, Matthew A., BS; Steyerberg, Ewout W., PhD; Stieg, Philip E., MD, PhD; Stone, Scellig S.D., MD, PhD, FRCSC; Stoodley, Marcus, MD, PhD, FRACS; Strahle, Jennifer M., MD; Stricsek, Geoffrey, MD; Strong, Anthony, DM, FRCSEd; Strowd, Roy E., III, MD, MEd, MS; Stummer, Walter, MD, PhD; Su, YouRong S., MD; Sughrue, Michael E., MD; Suh, John H., MD; Sulaiman, Wale A.R., MD, PhD, FRCS(C); Sun, Bomin, MD, PhD; Sun, Matthew Z., MD; Sun, Xiaonan Richard, MD, PhD; Sundaram, Vikram K., MD; Sweid, Ahmad, MD; Syed, Hasan R., MD; Tagliati, Michele, MD, FAAN; Taira, Takaomi, MD, PhD; Tajsic, Tamara, MD, PhD; Takagi, Yasushi, MD, PhD; Takeoka, Yoshiki, MD, PhD; Tamargo, Rafael J., MD; Tanaka, Shota, MD, PhD; Tandon, Nitin, MD, FAANS; Tang, Daniel D., MS; Tanweer, Omar, MD; Tate, Matthew C., MD, PhD; Tatsui, Claudio E., MD; Taylor, Jennie W., MD, MPH; Taylor, Jesse A., MD; Taylor, Michael D., MD, PhD, FRCS(C); Templer, Jessica W., MD; Teo, Charles, MBBS, FRACS; Tessier, Jeffrey M., MD; Theadom, Alice, PhD, MNZPSS, MIHP; Theodore, Nicholas, MD; Thinwa, Josephine W., MD, PhD; Thompson, B. Gregory, Jr., MD; Thompson, Eric M., MD; Thompson, Stephen A., MD, FRCPC; Thon, Niklas, MD, MBA; Thurtell, Matthew J., MBBS, MSc, FRACP; Tilton, Ann H., MD; Timmons, Shelly D., MD, PhD, FACS, FAANS; Tonn, Jörg-Christian, MD; Toth, Gabor, MD, FAHA; Toussaint, Charles P., MD; Tran, Minh H., MBBS; Trapp, Bruce D., PhD; Traylor, Jeffrey I., MD; Trifiletti, Daniel M., MD; Tse, Kai-Hei, BSc, MRes, Lic. Med., PhD; Tubbs, R. Shane, PhD, MS, PA-C; Tuleasca, Constantin, MD-PhD; Tunkel, Allan R., MD, PhD; Türe, Ugur, MD; Umansky, Daniel, MD, FEBNS; Unda, Santiago R., MD; Ung, Timothy H., MD; Upadhyayula, Pavan S., BA; Uribe, Juan S., MD; Uy, Benjamin R., MD, PhD; Vaccaro, Alexander R., MD, PhD, MBA; Vakharia, Kunal, MD; Vakharia, Vejay N., MBBChir, PhD, FRCS; Valvassori, Luca, MD; van den Bent, Martin J., MD; Van Gompel, Jamie J., MD; Vasquez, Carlos M., MD; Vasudeva, Viren S., MD; Vasudevan, Kumar, MD; Vellimana, Ananth K., MD; Verlicchi, Angela, MD; Vervoordt, Samantha M., BS; Viapiano, Mariano S., PhD; Vide, Sérgio, MD; Villa, Genaro R., MD, PhD; Virk, Michael S., MD, PhD; Visser-Vandewalle, Veerle, MD, PhD; Vitek, Jerrold L., MD, PhD; Vivas-Buitrago, Tito, MD; Vo, Chau D., MD; Vogelbaum, Michael A., MD, PhD; Vollmer, Dennis G., MD; Wackym, P. Ashley, MD, FACS, FAAP; Wainwright, Mark S., MD, PhD; Wali, Arvin R., MD, MAS; Walker, Corey T., MD; Walters, Beverly C., MD, MSc, FRCSC; Wang, Anthony C., MD; Wang, Arthur, MD; Wang, Huan, MD, PhD; Wang, Joshua L., MD; Wang, Kevin K.W., PhD; Wang, Michael Y., MD, FAANS, FACS; Wang, Minghao, MD, PhD; Wang, Shelly, MD, MPH; Wang, Tao, MD; Wang, Tony R., MD; Wang, Vincent Y., MD, PhD; Waqas, Muhammad, MBBS, FCPS; Warf, Benjamin C., MD; Weiner, Howard L., MD; Weingart, Jon D., MD; Weinstein, Lawrence, MD; Weiss, Martin H., MD; Weiss, Nirit, MD; Welch, Babu G., MD; Wellons, John C., III, MD, MSPH; Wen, Hung Tzu, MD; Wen, Patrick Y., MD; West, G. Alexander, MD, PhD; Wewel, Joshua T., MD; Whitehead, William E., MD; Whiting, Alexander C., MD; Whiting, Donald M., MD, MS; Wichmann, Thomas, MD; Wilkinson, D. Andrew, MD, MS; Williams, Michael A., MD; Williams-Medina, Alberto R., MS; Williamson, Theresa, MD; Wilson, Lindsay, PhD; Winer, Jesse L., MD, FAANS; Winfree, Christopher J., MD; Winkler, Ethan A., MD, PhD; Winn, H. Richard, MD; Wintermark, Max, MD, MAS, MBA; Wipplinger, Christoph, MD; Witiw, Christopher D., MD, MS; Wolfla, Christopher E., MD; Wolinsky, Jean-Paul, MD; Wong, Eric T., MD; Worrell, Gregory A., MD, PhD; Wrensch, Margaret R., PhD; Wright, Christina H., MD; Wu, Jau-Ching, MD, PhD; Wu, Jenny, MD; Wu, Kyle C., MD; Wu, Pang Hung, MBBS, MMED (Orth), FRCS Edinburgh; Xu, David S., MD; Xu, Linda Wei, MD; Xu, Yifan, MD, PhD; Xu, Zhen, PhD; Xu, Zhiyuan, MD, MSc; Yaeger, Kurt A., MD; Yahanda, Alexander T., MD, MPHS; Yan, Rachel E., BS; Yan, Yuanqing, PhD; Yang, George L., MD; Yasuno, Katsuhito, PhD; Yen, Chun-Po, MD; Yokota, Kazuya, MD, PhD; Yolcu, Yagiz Ugur, MD; Young, Timothy P., MD; Yu, Jennifer S., MD, PhD; Yue, John K., MD; Yuh, Esther L., MD, PhD; Zabramski, Joseph M., MD; Zacest, Andrew, MBBS, MS, FRACS, FFPMANZCA; Zacko, J. Christopher, MD, MS, FAANS; Zada, Gabriel, MD, MS; Zafonte, Ross D., DO; Zager, Eric L., MD; Zakare-Fagbamila, Rasheedat T., MD; Zakeri, Amanda, MD; Zanotti, Bruno, MD, PhD; Zawar, Ifrah, MBBS, MD; Zeineddine, Hussein A., MD; Zellner, Elizabeth G., MD; Zhan, Shikun, MD, PhD; Zhang, Chencheng, MD, PhD; Zhang, Michael, MD; Zhang, Yingying, MSc; Zibly, Zion, MD MBA; Zigler, Jack E., MD; Zipfel, Gregory J., MD; Zipser, Carl Moritz, MD, FEBN; Zrinzo, Ludvic, MD, PhD, FRCSEd; Zumofen, Daniel W., MD

Youmans and Winn Neurological Surgery. :xlix-ciii

Laboy Cintron D.; Muir A. M.; Scott A.; McDonald M.; Monaghan K. G.; Santiago-Sim T.; Wentzensen I. M.; De Luca C.; Brancati F.; Harris D. J.; Goueli C.; Stottmann R.; Prada C. E.; Biderman Waberski M.; Mefford H. C.

HGG Adv
HGG Advances, Vol 3, Iss 1, Pp 100072-(2022)

Ahring PK; Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Liao VWY; Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Selmer KK; National Centre for Rare Epilepsy-Related Disorders, Oslo University Hospital, Oslo, Norway.; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Stadheim BF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Davis H; Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Peinhardt C; Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.; Koko M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Coorg RK; Department of Pediatrics and Neurology, Neurophysiology and Epilepsy, Baylor College of Medicine, Houston, TX, USA.; Syrbe S; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Bertsche A; Neuropaediatrics, University Hospital for Children and Adolescents, Rostock, Germany.; Center for Pediatric Research, University Hospital for Children and Adolescents, Leipzig, Germany.; Santiago-Sim T; GeneDx, Inc., Gaithersburg, MD 20877, USA.; Diemer T; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.; Fenger CD; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.; Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Chebib M; Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

van der Welle REN; Section Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Jobling R; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Burns C; Department of Biological Sciences, Division of Natural Sciences and Mathematics, University of Denver, Denver, CO, USA.; Sanza P; Section Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; van der Beek JA; Section Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Fasano A; Edmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN, Toronto, ON, Canada.; Division of Neurology, University of Toronto, Toronto, ON, Canada.; Krembil Brain Institute, Toronto, ON, Canada.; Center for Advancing Neurotechnological Innovation to Application (CRANIA), Toronto, ON, Canada.; Chen L; Department of Biological Sciences, Division of Natural Sciences and Mathematics, University of Denver, Denver, CO, USA.; Zwartkruis FJ; Section Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Zwakenberg S; Section Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Griffin EF; Department of Biological Sciences, The University of Alabama, Tuscaloosa, AL, USA.; Department of Neurology, Center for Neurodegeneration and Experimental Therapeutics, Nathan Shock Center for Basic Research in the Biology of Aging, University of Alabama at Birmingham School of Medicine, Birmingham, AL, USA.; Ten Brink C; Section Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Veenendaal T; Section Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Liv N; Section Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; van Ravenswaaij-Arts CMA; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Lemmink HH; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Blaser S; Department of Diagnostic Imaging, Hospital for Sick Children, Toronto, ON, Canada.; Sepulveda C; Edmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN, Toronto, ON, Canada.; Division of Neurology, University of Toronto, Toronto, ON, Canada.; Lozano AM; Krembil Brain Institute, Toronto, ON, Canada.; Center for Advancing Neurotechnological Innovation to Application (CRANIA), Toronto, ON, Canada.; Department of Neurosurgery, Toronto Western Hospital, UHN, Toronto, ON, Canada.; University of Toronto, Toronto, ON, Canada.; Yoon G; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Santiago-Sim T; GeneDx, Inc, Gaithersburg, MD, USA.; Asensio CS; Department of Biological Sciences, Division of Natural Sciences and Mathematics, University of Denver, Denver, CO, USA.; Caldwell GA; Department of Biological Sciences, The University of Alabama, Tuscaloosa, AL, USA.; Department of Neurology, Center for Neurodegeneration and Experimental Therapeutics, Nathan Shock Center for Basic Research in the Biology of Aging, University of Alabama at Birmingham School of Medicine, Birmingham, AL, USA.; Caldwell KA; Department of Biological Sciences, The University of Alabama, Tuscaloosa, AL, USA.; Department of Neurology, Center for Neurodegeneration and Experimental Therapeutics, Nathan Shock Center for Basic Research in the Biology of Aging, University of Alabama at Birmingham School of Medicine, Birmingham, AL, USA.; Chitayat D; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, University of Toronto, Toronto, ON, Canada.; Klumperman J; Section Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

O'Grady L; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; MGH Institute of Health Professions, Charlestown, Massachusetts, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughter, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Hoffman TL; Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, California, USA.; Sarco D; Department of Neurology, Kaiser Permanente-Los Angeles Medical Center, Los Angeles, California, USA.; Cherny S; Division of Cardiology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.; Bryant E; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.; Schultz-Rogers L; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Chung WK; Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, New York, USA.; Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; Immken LL; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Holder S; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Blackwell RR; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Buchanan C; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA.; Yusupov R; Division of Pediatric Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.; Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France.; Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.; de Vries BBA; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; Santos Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Brown N; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Pais L; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Ferrer A; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Klee EW; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Babovic-Vuksanovic D; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.; Rhodes L; GeneDx, Inc., Gaithersburg, Maryland, USA.; Person R; GeneDx, Inc., Gaithersburg, Maryland, USA.; Begtrup A; GeneDx, Inc., Gaithersburg, Maryland, USA.; Keller-Ramey J; GeneDx, Inc., Gaithersburg, Maryland, USA.; Santiago-Sim T; GeneDx, Inc., Gaithersburg, Maryland, USA.; Schnur RE; GeneDx, Inc., Gaithersburg, Maryland, USA.; Sweetser DA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

von Wintzingerode L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Electronic address: lydia.vonwintzingerode@medizin.uni-leipzig.de.; Ben-Zeev B; Pediatric Neurology Institute, Sheba Medical Center, Ramat Gan, Israel.; Cesario C; Translational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Chan KM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Depienne C; Institute of Human Genetics, University Hospital Essen, Essen, Germany.; Elpeleg O; Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.; Iascone M; Laboratory of Medical Genetics, Azienda Ospedaliera Papa Giovanni XXIII, Bergamo, Italy.; Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL.; Nassogne MC; Reference Centre for refractory Epilepsy, Cliniques universitaires Saint-Luc, Brussels, Belgium.; Niceta M; Molecular Genetics and Functional Genomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Pezzani L; Paediatric Department, Azienda Ospedaliera Papa Giovanni XXIII, Bergamo, Italy.; Rahner N; MVZ Institute for Clinical Genetics and Tumor Genetics, Bonn, Germany.; Revencu N; Center for Human Genetics, Cliniques universitaires Saint-Luc, Brussels, Belgium.; Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Santiago-Sim T; GeneDx, LLC., Gaithersburg, MD.; Tartaglia M; Molecular Genetics and Functional Genomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL.; Trivisano M; Clinical and Experimental Neurology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Electronic address: henry.oppermann@medizin.uni-leipzig.de.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Guo T; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Wang C; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Garrett L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.; Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Kurolap A; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Henig NZ; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Boys Town National Research Hospital, Boys Town, NE, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Becker L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Rathkolb B; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians University Munich, Munich, Germany; German Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.; Gerlini R; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Seisenberger C; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Marschall S; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, TX, USA; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX, USA.; Gerard A; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Heidlebaugh A; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.; Challman T; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.; Spillmann RC; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; Lalani S; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Liu L; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.; Iglesias A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Guzman E; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Baugh E; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Boddaert N; Paediatric Radiology Department, AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, 75015 Paris, France.; Rondeau S; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France.; Ormieres C; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France.; Barcia G; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France.; Tan QKG; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA.; Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA; University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.; Sheikh K; Department of Neurology, UT Health Science Center at Houston, McGovern Medical School, Houston, TX, USA.; Biliciler S; Department of Neurology, UT Health Science Center at Houston, McGovern Medical School, Houston, TX, USA.; Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Melani F; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Shashi V; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Yaron Y; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Steele M; Lifetime Neurodevelopmental Care, San Francisco, CA, USA.; Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Østergaard E; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Nazaryan-Petersen L; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Millan F; GeneDx, Gaithersburg, MD, USA.; Santiago-Sim T; GeneDx, Gaithersburg, MD, USA.; Thevenon J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire Dijon, Equipe Genetics of Developmental Anomalies-INSERM UMR 1231, Dijon, France.; Bruel AL; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon, France; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France.; Thauvin-Robinet C; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Popp D; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gawlinski P; Institute of Mother and Child, Kasprzaka 17a, 02-211 Warsaw, Poland.; Wiszniewski W; Oregon Health & Sciences University, 3181 SW Sam Jackson Park Road L103, Portland, OR, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Gailus-Durner V; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence, Florence, Italy.; Fuchs H; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Hrabě de Angelis M; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; German Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Alte Akademie 8, 85354 Freising, Germany.; Hölter SM; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Technische Universität München, Freising-Weihenstephan, Germany.; Cheung HH; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Gu S; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China; Key Laboratory for Regenerative Medicine, Ministry of Education, School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China; Kunming Institute of Zoology Chinese Academy of Sciences, the Chinese University of Hong Kong Joint Laboratory of Bioresources and Molecular Research of Common Diseases, Hong Kong SAR, China. Electronic address: shengu@cuhk.edu.hk.; Lupski JR; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. Electronic address: jlupski@bcm.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Pammi M; Department of Pediatrics, Section of Neonatology, Baylor College of Medicine, Houston, Texas.; Saronwala A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Ghazi AR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Vetrini F; Baylor Genetics Laboratory, Houston, Texas.; Zhang J; Baylor Genetics Laboratory, Houston, Texas.; He W; Baylor Genetics Laboratory, Houston, Texas.; Dharmadhikari AV; Baylor Genetics Laboratory, Houston, Texas.; Qu C; Baylor Genetics Laboratory, Houston, Texas.; Ward P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Braxton A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Narayanan S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Ge X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Tokita MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Santiago-Sim T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Chiang T; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Smith H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Bostwick BL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Scott D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.; Brown C; Department of Pediatrics, Genetics Division, University of Tennessee Health Science Center, Memphis.; Hu J; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Craigen WJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Plon SE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston.; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Gibbs RA; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Muzny DM; The Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Miller MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Wang X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Shaw C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Walkiewicz M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Baylor Genetics Laboratory, Houston, Texas.; Texas Children's Hospital, Houston.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2168-6211 (Electronic) Linking ISSN: 21686203 NLM ISO Abbreviation: JAMA Pediatr Subsets: MEDLINE

Snijders Blok L; Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands. lot.snijdersblok@radboudumc.nl.; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. lot.snijdersblok@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. lot.snijdersblok@radboudumc.nl.; Vino A; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; den Hoed J; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Underhill HR; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.; Monteil D; Department of Pediatrics, Naval Medical Center, Portsmouth, VA, USA.; Li H; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Reynoso Santos FJ; Department of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.; Charles E. Schmidt College of Medicine, Florida Atlantic University, Boca Raton, FL, USA.; Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Schnur RE; GeneDx, Gaithersburg, MD, USA.; Santiago-Sim T; GeneDx, Gaithersburg, MD, USA.; Si Y; GeneDx, Gaithersburg, MD, USA.; Brunner HG; Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, MHeNS School of Neuroscience, and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Kleefstra T; Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Fisher SE; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. simon.fisher@mpi.nl.; Donders Institute for Brain, Cognition & Behaviour, Radboud University, Nijmegen, The Netherlands. simon.fisher@mpi.nl.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

den Hoed J; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands.; de Boer E; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.; Voisin N; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.; Dingemans AJM; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.; Guex N; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Bioinformatics Competence Center, University of Lausanne, 1015 Lausanne, Switzerland.; Wiel L; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Center for Molecular and Biomolecular Informatics of the Radboudumc, 6500 HB Nijmegen, the Netherlands.; Nellaker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford OX3 7DQ, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7LF, UK.; Amudhavalli SM; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Banka S; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Bena FS; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland.; Ben-Zeev B; Edmomd and Lilly Safra Pediatric Hospital, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.; Bonagura VR; Institute of Molecular Medicine, Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA; Pediatrics and Molecular Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA.; Bruel AL; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France.; Brunet T; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.; Brunner HG; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, and MHeNS School for Mental health and Neuroscience, PO Box 5800, 6202AZ Maastricht, the Netherlands.; Chew HB; Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang, 50586 Kuala Lumpur, Malaysia.; Chrast J; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.; Cimbalistienė L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.; Coon H; Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.; Délot EC; Center for Genetic Medicine Research, Children's National Hospital, Children's Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20010, USA.; Démurger F; Department of clinical genetics, Vannes hospital, 56017 Vannes, France.; Denommé-Pichon AS; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France.; Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Donnai D; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel.; Faivre L; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.; Gilissen C; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.; Granger L; Department of Rehabilitation and Development, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, OR 97227, USA.; Haber B; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Hachiya Y; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan.; Abedi YH; Division of Allergy and Immunology, Northwell Health, Great Neck, NY 11021, USA; Departments of Medicine and Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA.; Hanebeck J; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Hehir-Kwa JY; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, the Netherlands.; Horist B; Pediatrics & Genetics, Alpharetta, GA 30005, USA.; Itai T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.; Jackson A; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.; Jewell R; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, UK.; Jones KL; Division of Medical Genetics & Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA 23507, USA.; Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.; Kashii H; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan.; Kato M; Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Tokyo 142-8666, Japan.; Kattentidt-Mouravieva AA; Zuidwester, 3240AA Middelharnis, the Netherlands.; Kok F; Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil; University of Sao Paulo, School of Medicine, Sao Paulo, SP 01246-903, Brazil.; Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Krishnamurthy V; Pediatrics & Genetics, Alpharetta, GA 30005, USA.; Kučinskas V; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Lavillaureix A; CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, 35033 Rennes, France.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.; Manwaring L; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110-1093, USA.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.; Mazel B; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.; McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Meiner V; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel.; Mikati MA; Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA.; Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.; Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.; Moey LH; Department of Genetics, Penang General Hospital, Jalan Residensi, 10990 Georgetown, Penang, Malaysia.; Mohammed S; Clinical Genetics, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel.; Mountford H; Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, Oxford OX3 0BP, UK.; Newbury-Ecob R; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8EG, UK.; Odent S; CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, 35033 Rennes, France.; Orec L; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada.; Palculict TB; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Parker M; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S5 7AU, UK.; Petersen AK; Department of Rehabilitation and Development, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, OR 97227, USA.; Pfundt R; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands.; Preikšaitienė E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.; Radtke K; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Ranza E; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Santiago-Sim T; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Schwager C; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center+, azM, 6202 AZ Maastricht, the Netherlands; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, 6229 ER Maastricht, the Netherlands.; Snijders Blok L; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.; Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27713, USA.; Stegmann APA; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, azM, 6202 AZ Maastricht, the Netherlands.; Thiffault I; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Tran L; Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA.; Vaknin-Dembinsky A; Department of Neurology and Laboratory of Neuroimmunology, The Agnes Ginges Center for Neurogenetics, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, 91120 Jerusalem, Israel.; Vedovato-Dos-Santos JH; Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil.; Schrier Vergano SA; Division of Medical Genetics & Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA.; Vilain E; Center for Genetic Medicine Research, Children's National Hospital, Children's Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20010, USA.; Vitobello A; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France.; Wagner M; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany.; Waheeb A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.; Willing M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110-1093, USA.; Zuccarelli B; The University of Kansas School of Medicine Salina Campus, Salina, KS 67401, USA.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.; Newbury DF; Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, Oxford OX3 0BP, UK.; Kleefstra T; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.; Reymond A; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.; Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands. Electronic address: simon.fisher@mpi.nl.; Vissers LELM; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Fang XQ; Department of Biomedical Sciences, Florida State University, Tallahassee, FL, 32306, USA. fangxiaoqian.ch@gmail.com.; Qiao H; Department of Biomedical Sciences, Florida State University, Tallahassee, FL, 32306, USA. haifa.qiao@med.fsu.edu.; Groveman BR; Department of Biomedical Sciences, Florida State University, Tallahassee, FL, 32306, USA. bradley.groveman@nih.gov.; Feng S; Department of Biomedical Sciences, Florida State University, Tallahassee, FL, 32306, USA. doc.shfeng@gmail.com.; Pflueger M; Department of Biomedical Sciences, Florida State University, Tallahassee, FL, 32306, USA. melpflueger@yahoo.com.; Xin WK; Faculty of Dentistry, University of Toronto, Toronto, M5G 1G6, Canada. xinw@sccp.sc.edu.; Ali MK; Department of Biomedical Sciences, Florida State University, Tallahassee, FL, 32306, USA. alikutub@yahoo.com.; Lin SX; Department of Biomedical Sciences, Florida State University, Tallahassee, FL, 32306, USA. suelinyu1@hotmail.com.; Xu J; Faculty of Dentistry, University of Toronto, Toronto, M5G 1G6, Canada. jindong.xu09@gmail.com.; Duclot F; Department of Biomedical Sciences, Florida State University, Tallahassee, FL, 32306, USA. florian.duclot@med.fsu.edu.; Kabbaj M; Department of Biomedical Sciences, Florida State University, Tallahassee, FL, 32306, USA. mohamed.kabbaj@med.fsu.edu.; Wang W; Department of Neurology, 1st Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, PR China. ww20040723@163.com.; Ding XS; Department of Neurology, 1st Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, PR China. ding-xs@139.com.; BenQ Neurological Institute, Nanjing Medical University, Nanjing, 210021, PR China. ding-xs@139.com.; Santiago-Sim T; Department of Neurosurgery, The University of Texas Medical School at Houston Vivian L. Smith, Houston, TX, 77030, USA. Teresa.SantiagoSim@uth.tmc.edu.; Jiang XH; Department of Physiology and Neurobiology, Medical College of Soochow University, Suzhou, 215123, China. jiangxinghong@suda.edu.cn.; Salter MW; Program in Neuroscience and Mental Health, Hospital for Sick Children, University of Toronto, Toronto, M5G 1X8, Canada. mike.salter@utoronto.ca.; Yu XM; Department of Biomedical Sciences, Florida State University, Tallahassee, FL, 32306, USA. yuxianminyu1981@hotmail.com.; Faculty of Dentistry, University of Toronto, Toronto, M5G 1G6, Canada. yuxianminyu1981@hotmail.com.; BenQ Neurological Institute, Nanjing Medical University, Nanjing, 210021, PR China. yuxianminyu1981@hotmail.com.; Department of Physiology and Neurobiology, Medical College of Soochow University, Suzhou, 215123, China. yuxianminyu1981@hotmail.com.

Publisher: BioMed Central Country of Publication: England NLM ID: 101468876 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-6606 (Electronic) Linking ISSN: 17566606 NLM ISO Abbreviation: Mol Brain Subsets: MEDLINE

Duncan AR; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France; INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, 21000 Dijon, France; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Collins SC; INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, 21000 Dijon, France.; Vancollie VE; Wellcome Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.; Lelliott CJ; Wellcome Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.; Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Shi J; Department of Biomedical Sciences, City University of Hong Kong, Hong Kong, Hong Kong SAR.; Seman AR; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Agolini E; Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital, 00146 Rome, Italy.; Novelli A; Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital, 00146 Rome, Italy.; Prontera P; Medical Genetics Unit, Maternal-Infantile Department, Hospital and University of Perugia, 06129 Perugia, Italy.; Guillen Sacoto MJ; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA.; Santiago-Sim T; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA.; Trimouille A; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Goizet C; Reference Center for Neurogenetics, Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Nizon M; CHU Nantes, Genetic Medical Department, 44093 Nantes, France.; Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France; INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, 21000 Dijon, France.; Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France; INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, 21000 Dijon, France.; Grant PE; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Radiology, Boston Children's Hospital, Boston, MA 02115, USA.; Wojcik MH; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.; van Dooren MF; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, 3000 CA Rotterdam, the Netherlands.; Maas SM; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.; Alders M; Amsterdam UMC, University of Amsterdam, Department of Clinical Genetics, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.; Faivre L; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France; INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, 21000 Dijon, France; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Sorlin A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France; INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, 21000 Dijon, France; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France; Centre de Référence Maladies Rares « Déficiences Intellectuelles de Causes Rares », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Yoon G; Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.; Yalcin B; INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, 21000 Dijon, France. Electronic address: binnaz.yalcin@inserm.fr.; Agrawal PB; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: pagrawal@enders.tch.harvard.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Santiago-Sim T; University of Texas Medical School, Houston, TX, USA. teresa.santiagosim@uth.tmc.edu; Colosimo S; Powner DJ

Publisher: Sage Country of Publication: United States NLM ID: 100909380 Publication Model: Print Cited Medium: Print ISSN: 1526-9248 (Print) Linking ISSN: 15269248 NLM ISO Abbreviation: Prog Transplant

Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA.; Neira J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Department of Pediatrics, Section of Child Neurology, Baylor College of Medicine, Houston, Texas, 77030, USA.; Santiago-Sim T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA.; Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Rosenfeld J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Patel V; Baylor Genetics, Houston, Texas, 77021, USA.; Jin W; Baylor Genetics, Houston, Texas, 77021, USA.; Adam MP; Seattle Children's Hospital, Seattle, Washington, 98105, USA.; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, 98105, USA.; Baple EL; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital, Gladstone Road, Exeter, EX1 2ED, UK.; Dean J; Clinical Genetics Service, NHS Grampian, Aberdeen, AB25 2ZA, Scotland.; Fong CT; Department of Pediatrics, University of Rochester Medical Center, Rochester, New York, 14642, USA.; Hickey SE; Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio, 43205, USA.; Hudgins L; Division of Medical Genetics, Stanford University, Stanford, California, 94305, USA.; Leon E; Rare Disease Institute, Children's National Health System, Washington, DC, 20010, USA.; Madan-Khetarpal S; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, 15224, USA.; Rawlins L; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital, Gladstone Road, Exeter, EX1 2ED, UK.; Rustad CF; Department of Medical Genetics, Oslo University Hospital, 0424, Oslo, Norway.; Stray-Pedersen A; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0424, Oslo, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway.; Wenger O; New Leaf Center, Clinic for Special Children, Mt. Eaton, Ohio, 44659, USA.; Diaz J; Rare Disease Institute, Children's National Health System, Washington, DC, 20010, USA.; Jenkins L; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, 15224, USA.; Martin L; Department of Pediatrics, University of Rochester Medical Center, Rochester, New York, 14642, USA.; McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA.; Pietryga M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Ramsdell L; Seattle Children's Hospital, Seattle, Washington, 98105, USA.; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, 98105, USA.; Slattery L; Division of Medical Genetics, Stanford University, Stanford, California, 94305, USA.; Abid F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Department of Pediatrics, Section of Child Neurology, Baylor College of Medicine, Houston, Texas, 77030, USA.; Bertuch AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Grange D; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, 63110, USA.; Immken L; Dell Children's Medical Center of Central Texas, Austin, Texas, 78723, USA.; Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Center for Rare Diseases, University Hospital Cologne, Cologne, Germany.; Van Esch H; Center for Human Genetics, Department of Human Genetics, KU Leuven, 3000, Leuven, Belgium.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA.; Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA.; Breman AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA.; Smith JL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA.; Shaw C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA.; Crosby AH; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.; Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA.; Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA. pengfei.liu@bcm.edu.; Baylor Genetics, Houston, Texas, 77021, USA. pengfei.liu@bcm.edu.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Santiago-Sim T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Ebstein F; Charité-Universitätsmedizin Berlin, Institute of Biochemistry, Charité Platz 1/Virchowweg 6, 10117 Berlin, Germany.; Tokita MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA.; Miller M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA.; Braxton AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Shahrour M; Department of Pediatrics and Genetics, Makassed Hospital and Al-Quds University, Jerusalem 91220, Palestine.; Lehmann A; Charité-Universitätsmedizin Berlin, Institute of Biochemistry, Charité Platz 1/Virchowweg 6, 10117 Berlin, Germany.; Cogné B; CHU de Nantes, Service de Génétique Médicale, Nantes Cedex 1 44093, France.; Küry S; CHU de Nantes, Service de Génétique Médicale, Nantes Cedex 1 44093, France.; Besnard T; CHU de Nantes, Service de Génétique Médicale, Nantes Cedex 1 44093, France.; Isidor B; CHU de Nantes, Service de Génétique Médicale, Nantes Cedex 1 44093, France; INSERM, UMR-S 957, 1 Rue Gaston Veil, Nantes 44035, France.; Bézieau S; CHU de Nantes, Service de Génétique Médicale, Nantes Cedex 1 44093, France.; Hazart I; CHU de Nantes, Service de Pédiatrie, Nantes Cedex 1 44093, France.; Nagakura H; Specially for Children, Austin, TX 78723, USA.; Immken LL; Specially for Children, Austin, TX 78723, USA.; Littlejohn RO; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 78207, USA.; Roeder E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 78207, USA.; Kara B; Department of Pediatrics, Kocaeli University Medical Faculty, Kocaeli 41380, Turkey.; Hardies K; Neurogenetics Group, Center of Molecular Neurology, VIB, Antwerp 2610, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium.; Weckhuysen S; Neurogenetics Group, Center of Molecular Neurology, VIB, Antwerp 2610, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Division of Neurology, Antwerp University Hospital, Antwerp 2610, Belgium.; May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette 4362, Luxembourg.; Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 04103 Leipzig, Germany.; Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.; Abu-Libdeh B; Department of Pediatrics and Genetics, Makassed Hospital and Al-Quds University, Jerusalem 91220, Palestine.; James KN; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, CA 92093, USA.; Silhavy JL; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, CA 92093, USA.; Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.; Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, CA 92093, USA.; Seavitt JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Dickinson ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.; Ljungberg MC; The Jan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Wells S; Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.; Johnson SJ; Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.; Teboul L; Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.; Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA.; Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA.; Kloetzel PM; Charité-Universitätsmedizin Berlin, Institute of Biochemistry, Charité Platz 1/Virchowweg 6, 10117 Berlin, Germany; Berlin Institute of Health, 10117 Berlin, Germany.; Heaney JD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Dan L. Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: heaney@bcm.edu.; Walkiewicz MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA. Electronic address: mwalkiew@bcm.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Santiago-Sim T; Mathew-Joseph S; Pannu H; Milewicz DM; Seidman CE; Seidman JG; Kim DH; Santiago-Sim, Teresa; Mathew-Joseph, Sumy; Pannu, Hariyadarshi; Milewicz, Dianna M; Seidman, Christine E; Seidman, J G; Kim, Dong H

Stroke (00392499). May2009, Vol. 40 Issue 5, p1604-1611. 8p.