부산대학교 도서관

Sarah E. Sheppard; Ian M. Campbell; Margaret H. Harr; Nina Gold; Dong Li; Hans T. Bjornsson; Julie S. Cohen; Jill A. Fahrner; Ali Fatemi; Jacqueline R. Harris; Catherine Nowak; Cathy A. Stevens; Katheryn Grand; Margaret Au; John M. Graham; Pedro A. Sanchez‐Lara; Miguel Del Campo; Marilyn C. Jones; Omar Abdul‐Rahman; Fowzan S. Alkuraya; Jennifer A. Bassetti; Katherine Bergstrom; Elizabeth Bhoj; Sarah Dugan; Julie D. Kaplan; Nada Derar; Karen W. Gripp; Natalie Hauser; A. Micheil Innes; Beth Keena; Neslida Kodra; Rebecca Miller; Beverly Nelson; Malgorzata J. Nowaczyk; Zuhair Rahbeeni; Shay Ben‐Shachar; Joseph T. Shieh; Anne Slavotinek; Andrew K. Sobering; Mary‐Alice Abbott; Dawn C. Allain; Louise Amlie‐Wolf; Ping Yee Billie Au; Emma Bedoukian; Geoffrey Beek; James Barry; Janet Berg; Jonathan A. Bernstein; Cheryl Cytrynbaum; Brian Hon‐Yin Chung; Sarah Donoghue; Naghmeh Dorrani; Alison Eaton; Josue A. Flores‐Daboub; Holly Dubbs; Carolyn A. Felix; Chin‐To Fong; Jasmine Lee Fong Fung; Balram Gangaram; Amy Goldstein; Rotem Greenberg; Thoa K. Ha; Joseph Hersh; Kosuke Izumi; Staci Kallish; Elijah Kravets; Pui‐Yan Kwok; Rebekah K. Jobling; Amy E. Knight Johnson; Jessica Kushner; Bo Hoon Lee; Brooke Levin; Kristin Lindstrom; Kandamurugu Manickam; Rebecca Mardach; Elizabeth McCormick; D. Ross McLeod; Frank D. Mentch; Kelly Minks; Colleen Muraresku; Stanley F. Nelson; Patrizia Porazzi; Pavel N. Pichurin; Nina N. Powell‐Hamilton; Zoe Powis; Alyssa Ritter; Caleb Rogers; Luis Rohena; Carey Ronspies; Audrey Schroeder; Zornitza Stark; Lois Starr; Joan Stoler; Pim Suwannarat; Milen Velinov; Rosanna Weksberg; Yael Wilnai; Neda Zadeh; Dina J. Zand; Marni J. Falk; Hakon Hakonarson; Elaine H. Zackai; Fabiola Quintero‐Rivera

American Journal of Medical Genetics Part A, vol 185, iss 6

Joost Kummeling; Diante E. Stremmelaar; Nicholas Raun; Margot R. F. Reijnders; Marjolein H. Willemsen; Martina Ruiterkamp-Versteeg; Marga Schepens; Calvin C. O. Man; Christian Gilissen; Megan T. Cho; Kirsty McWalter; Margje Sinnema; James W. Wheless; Marleen E. H. Simon; Casie A. Genetti; Alicia M. Casey; Paulien A. Terhal; Jasper J. van der Smagt; Koen L. I. van Gassen; Pascal Joset; Angela Bahr; Katharina Steindl; Anita Rauch; Elmar Keller; Annick Raas-Rothschild; David A. Koolen; Pankaj B. Agrawal; Trevor L. Hoffman; Nina N. Powell-Hamilton; Isabelle Thiffault; Kendra Engleman; Dihong Zhou; Olaf Bodamer; Julia Hoefele; Korbinian M. Riedhammer; Eva M. C. Schwaibold; Velibor Tasic; Dirk Schubert; Deniz Top; Rolph Pfundt; Martin R. Higgs; Jamie M. Kramer; Tjitske Kleefstra

Molecular Psychiatry, 26, 6, pp. 2013-2024

Palmer, Elizabeth E; Kumar, Raman; Gordon, Christopher T; Shaw, Marie; Hubert, Laurence; Carroll, Renee; Rio, Marlène; Murray, Lucinda; Leffler, Melanie; Dudding-Byth, Tracy; Oufadem, Myriam; Lalani, Seema R; Lewis, Andrea M; Xia, Fan; Tam, Allison; Webster, Richard; Brammah, Susan; Filippini, Francesca; Pollard, John; Spies, Judy; Minoche, Andre E; Cowley, Mark J; Risen, Sarah; Powell-Hamilton, Nina N; Tusi, Jessica E; Immken, LaDonna; Nagakura, Honey; Bole-Feysot, Christine; Nitschké, Patrick; Garrigue, Alexandrine; De Saint Basile, Geneviève; Kivuva, Emma; DDD Study; Scott, Richard H; Rendon, Cesar; Munnich, Arnold; Newman, William; Kerr, Bronwyn; Besmond, Claude; Rosenfeld, Jill A; Amiel, Jeanne; Field, Michael; Gecz, Jozef

Kumar, R, Gordon, C T, Shaw, M, Hubert, L, Carroll, R, Rio, M, Murray, L, Leffler, M, Dudding-Byth, T, Oufadem, M, Lalani, S R, Lewis, A M, Xia, F, Tam, A, Webster, R, Brammah, S, Filippini, F, Spies, J, Minoche, A E, Cowley, M J, Risen, S, Powell-Hamilton, N N, Tusi, J E, Immken, L, Nagakura, H, Bole-Feysot, C, Nitschké, P, Garrigue, A, de Saint Basile, G, Kivuva, E, Rendon, A, Munnich, A, Newman, W, Kerr, B, Besmond, C, Rosenfeld, J A, Amiel, J, Gecz, J & DDD Study 2017, 'A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations', American Journal of Human Genetics, vol. 101, no. 6, pp. 995-1005. https://doi.org/10.1016/j.ajhg.2017.10.009

Lessel I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.; Baresic A; Division of Computing and Data Science, Ruđer Bošković Institute, 10000 Zagreb, Croatia.; Chinn IK; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX 77030, USA.; May J; Institute of Immunology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Goenka A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Afenjar A; Département de Génétique Paris, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, APHP, Sorbonne Université, Paris, France.; Averdunk L; Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich Heine University, Düsseldorf, Germany; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, 40225 Düsseldorf, Germany.; Bedeschi MF; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Milan, Italy.; Besnard T; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes, France.; Brager R; Division of Rheumatology, Immunology and Allergy, McMaster Children's Hospital, Hamilton, ON L8S 4K1, Canada.; Brick L; Division of Genetics and Metabolics, McMaster Children's Hospital, Hamilton, ON L8S 4K1, Canada.; Brugger M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Obstetrics and Gynecology, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Byrne S; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Calle-Martín O; Immunology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Cardenas P; Nicklaus Children's Hospital, Miami, FL, USA.; Chappé C; Service d'oncohematologie pédiatrique, CHU Rennes, 35000 Rennes, France.; Chong HJ; Department of Pediatrics, University of Pittsburgh School of Medicine, UPMC Children's Hospital, Pittsburgh, PA 15224, USA.; Cogne B; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes, France.; Conboy E; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Courtin T; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Deb W; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes, France.; Dilena R; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuropathophysiology Unit, Milan, Italy.; Dubourg C; Service de Génétique Moléculaire et Génomique, CHU, 35033 Rennes, France; University Rennes, CNRS, IGDR, UMR 6290, 35000 Rennes, France.; Elgizouli M; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Fernandes E; Division of Genetics, Department of Pediatrics, Nemours Children's Health, Wilmington, DE, USA.; Fitzgerald KK; Department of Cardiology, Nemours Children's Hospital, Wilmington, DE, USA.; Gangi S; Neonatal Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza, 28, 20122 Milan, Italy.; George-Abraham JK; Dell Children's Medical Group, Austin, TX, USA; Department of Pediatrics, The University of Texas at Austin Dell Medical School, Austin, TX, USA.; Gucsavas-Calikoglu M; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hadonou M; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.; Hanker B; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Hüning I; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Iascone M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, 24128 Bergamo, Italy.; Isidor B; L'Institut du Thorax, INSERM, CNRS, Université de Nantes, 44007 Nantes, France; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes, France.; Järvelä I; Department of Medical Genetics, University of Helsinki, P.O. Box 720, 00251 Helsinki, Finland.; Jin JJ; Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN, USA.; Jorge AAL; Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.; Josifova D; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Kalinauskiene R; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Keren B; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Kessler E; Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Kölbel H; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany.; Kozenko M; Division of Genetics and Metabolics, McMaster Children's Hospital, Hamilton, ON L8S 4K1, Canada.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Leal SM; Department of Neurology, Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, Columbia University, New York, NY 10032, USA; Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA.; Leppälä J; The Wellbeing Services County of South Ostrobothnia, 60280 Seinäjoki, Finland.; Luu SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, New York, NY, USA; George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA; Biology PhD Program, The Graduate Center, The City University of New York, New York, NY, USA.; Madan-Khetarpal S; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Mancardi M; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.; Marchi E; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, New York, NY, USA.; Mehta L; Department of Pediatrics, Division of Clinical Genetics, Columbia University Irving Medical Center, New York, NY, USA.; Menendez B; Division of Genetics, University of Illinois College of Medicine, Chicago, IL 60612, USA.; Morel CF; Fred A. Litwin Family Centre in Genetic Medicine, Department of Medicine, University Health Network, Toronto, ON, Canada.; Harasink SM; Division of Genetics, Department of Pediatrics, Nemours Children's Health, Wilmington, DE, USA.; Nevay DL; Fred A. Litwin Family Centre in Genetic Medicine, Department of Medicine, University Health Network, Toronto, ON, Canada.; Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Odent S; Clinical Genetics, Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, Rennes, France; University Rennes, CNRS, INSERM, Institut de génétique et développement de Rennes, UMR 6290, ERL U1305, Rennes, France.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands.; Pappas J; Department of Pediatrics, New York University Grossman School of Medicine, New York, NY 10016, USA.; Pastore MT; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Perilla-Young Y; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Powell-Hamilton N; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE, USA.; Rabin R; Department of Pediatrics, New York University Grossman School of Medicine, New York, NY 10016, USA.; Rekab A; Department of Pediatrics, Division of Clinical Genetics, Columbia University Irving Medical Center, New York, NY, USA.; Rezende RC; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.; Robert L; Department of Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Romano F; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Poths K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Schrauwen I; Department of Translational Neurosciences, University of Arizona College of Medicine - Phoenix, Phoenix, AZ 85004, USA.; Sebastian J; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.; Short J; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.; Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.; Sullivan J; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Szakszon K; Institute of Pediatrics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.; Tan QKG; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Department of Pediatrics, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University Hospital of Munich, Munich, Germany.; Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich Heine University, Düsseldorf, Germany.; Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Maeding N; Cell Therapy Institute, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Strunk D; Cell Therapy Institute, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Begtrup A; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Tolosa E; Institute of Immunology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; German Center for Child and Adolescent Health (DZKJ), partner site Hamburg, Hamburg, Germany.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address: davor.lessel@klinik.uni-regensburg.de.

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

Kummeling, Joost; Stremmelaar, Diante E; Raun, Nicholas; Reijnders, Margot R F; Willemsen, Marjolein H; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C O; Gilissen, Christian; Cho, Megan T; McWalter, Kirsty; Sinnema, Margje; Wheless, James W; Simon, Marleen E H; Genetti, Casie A; Casey, Alicia M; Terhal, Paulien A; van der Smagt, Jasper J; van Gassen, Koen L I; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A; Agrawal, Pankaj B; Hoffman, Trevor L; Powell-Hamilton, Nina N; Thiffault, Isabelle; et al

Kummeling, J.; Stremmelaar, D.E.; Raun, N.; Reijnders, M.R.; Willemsen, M.H.; Ruiterkamp-Versteeg, M.; Schepens, M.T.M.; Man, C.C.O.; Gilissen, C.F.H.A.; Cho, M.T.; McWalter, K.; Sinnema, M.; Wheless, J.W.; Simon, M.E.; Genetti, C.A.; Casey, A.M.; Terhal, P.A.; van der Smagt, J.J.; van Gassen, K.L.I.; Joset, P.; Bahr, A.; Steindl, K.; Rauch, A.; Keller, E.; Raas-Rothschild, A.; Koolen, D.A.; Agrawal, P.B.; Hoffman, T.L.; Powell-Hamilton, N.N.; Thiffault, I.; Engleman, K.; Zhou, D.; Bodamer, O.; Hoefele, J.; Riedhammer, K.M.; Schwaibold, E.M.C.; Tasic, V.; Schubert, D.; Top, D.; Pfundt, R.P.; Higgs, M.R.; Kramer, J.M.; Kleefstra, T.

Meilleur, Katherine G; Zukosky, Kristen; Medne, Livija; Fequiere, Pierre; Powell-Hamilton, Nina; Winder, Thomas L; Alsaman, Abdulaziz; El-Hattab, Ayman W; Dastgir, Jahannaz; Hu, Ying; Donkervoort, Sandra; Golden, Jeffrey A; Eagle, Ralph; Finkel, Richard; Scavina, Mena; Hood, Ian C; Rorke-Adams, Lucy B; Bönnemann, Carsten G

Journal of Neuropathology & Experimental Neurology, vol 73, iss 5

Alves, C. A. P. F.; Sherbini, O.; D'Arco, F.; Steel, D.; Kurian, M. A.; Radio, F. C.; Ferrero, G. B.; Carli, D.; Tartaglia, M.; Balci, T. B.; Powell-Hamilton, N. N.; Vergano, S. A. Schrier; Reutter, H.; Hoefele, J.; Gunthner, R.; Roeder, E. R.; Littlejohn, R. O.; Lessel, D.; Luttgen, S.; Kentros, C.; Anyane-Yeboa, K.; Catarino, C. B.; Mercimek-Andrews, S.; Denecke, J.; Lyons, M. J.; Klopstock, T.; Bhoj, E. J.; Bryant, L.; Vanderver, A.

AMERICAN JOURNAL OF NEURORADIOLOGY; JUN 30 2022, 6p.

Molecular Genetics and Metabolism. 132:S192

Spruijt, L; Larson, A; de Man, A; Dobyns, WB; Stegmann, APA; Timms, A; Baker, L; Sol-Church, K; Stabley, D; Powell-Hamilton, N; Tusi, J; Wessels, MW; Rinne, TK; Zackai, EH; McDougall, C; Santani, A; Bhoj, E; Dubbs, H; Chung, BHY; Wilems, PJ; Verheijen, F; Nellist, M; Belien, M; Nillesen, MW; Norrhock, HV; Stevens, SJC; Koolen, D; Bennett, J; Aldinger, KA; Gripp, KW

Meilleur, K.G.; Medne, L.; Hu, Y.; Perkins, K.; Powell-Hamilton, N.; Finkel, R.; Scavina, M.; Bonnemann, C.

Neuromuscular Disorders. 21(9-10):664-665

Fitzgerald KK; Nemours Cardiac Center, Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.; Powell-Hamilton N; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.; Shillingford AJ; Nemours Cardiac Center, Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.; Robinson B; Nemours Cardiac Center, Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.; Gripp KW; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware, 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

Wadman E; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE.; Fernandes E; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE.; Muss C; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE.; Powell-Hamilton N; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE.; Wojcik MH; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA.; The Manton Center for Orphan Disease Research and Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Madden JA; The Manton Center for Orphan Disease Research and Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Carreon CK; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Clark RD; Division of Pediatric Genetics, Loma Linda University Children's Hospital, Loma Linda, CA.; Stenftenagel A; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California-Irvine Medical Center, Irvine, CA.; Chikalard K; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California-Irvine Medical Center, Irvine, CA.; Kimonis V; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California-Irvine Medical Center, Irvine, CA.; Brucker W; Division of Medical Genetics, Hasbro Children's Hospital, Providence, RI.; Alves C; FDNA Inc., Sunrise, FL.; Gripp KW; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Bryant, L.; Li, D.; Cox, S.G.; Marchione, D.; Joiner, E.F.; Wilson, K.; Janssen, K.; Lee, P.; March, M.E.; Nair, D.; Sherr, E.; Fregeau, B.; Wierenga, K.J.; Wadley, A.; Mancini, G.M.S.; Powell-Hamilton, N.; van de Kamp, J.M.; Grebe, T.; Dean, J.; Ross, A.; Crawford, H.P.; Powis, Z.; Cho, M.T.; Willing, M.C.; Manwaring, L.; Schot, R.; Nava, C.; Afenjar, A.; Lessel, D.; Wagner, M.; Klopstock, T.; Winkelmann, J.; Catarino, C.B.; Retterer, K.; Schuette, J.L.; Innis, J.W.; Pizzino, A.; Lüttgen, S.; Denecke, J.; Strom, T.M.; Monaghan, K.G.; Yuan, Z.F.; Dubbs, H.; Bend, R.; Lee, J.A.; Lyons, M.J.; Hoefele, J.; Günthner, R.; Reutter, H.; Keren, B.; Radtke, K.; Sherbini, O.; Mrokse, C.; Helbig, K.L.; Odent, S.; Cogné, B.; Mercier, S.; Bézieau, S.; Besnard, T.; Küry, S.; Redon, R.; Reinson, K.; Wojcik, M.H.; Õunap, K.; Ilves, P.; Innes, A.M.; Kernohan, K.D.; Costain, G.; Meyn, M.S.; Chitayat, D.; Zackai, E.; Lehman, A.; Kitson, H.; Martin, M.G.; Martinez-Agosto, J.A.; Nelson, S.F.; Palmer, C.G.S.; Papp, J.C.; Parker, N.H.; Sinsheimer, J.S.; Vilain, E.; Wan, J.; Yoon, A.J.; Zheng, A.; Brimble, E.; Ferrero, G.B.; Radio, F.C.; Carli, D.; Barresi, S.; Brusco, A.; Tartaglia, M.; Thomas, J.M.; Umana, L.; Weiss, M.M.; Gotway, G.; Stuurman, K.E.; Thompson, M.L.; McWalter, K.; Stumpel, C.T.R.M.; Stevens, S.J.C.; Stegmann, A.P.A.; Tveten, K.; Vøllo, A.; Prescott, T.; Fagerberg, C.; Laulund, L.W.; Larsen, M.J.; Byler, M.; Lebel, R.R.; Hurst, A.C.; Schrier Vergano, S.A.; Norman, J.; Mercimek-Andrews, S.; Neira, J.; Van Allen, M.I.; Longo, N.; Sellars, E.; Louie, R.J.; Cathey, S.S.; Brokamp, E.; Heron, D.; Snyder, M.; Vanderver, A.; Simon, C.; de la Cruz, X.; Padilla, N.; Crump, J.G.; Chung, W.; Garcia, B.; Hakonarson, H.H.; Bhoj, E.J.

Sci. Adv. 6:106267 (2020)

Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Cox SG; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.; Marchione D; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Joiner EF; Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.; Wilson K; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Janssen K; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; March ME; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Nair D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Sherr E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Fregeau B; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Wierenga KJ; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Wadley A; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA.; Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.; Powell-Hamilton N; Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19810, USA.; van de Kamp J; Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands.; Grebe T; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Dean J; Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK.; Ross A; Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK.; Crawford HP; Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76104, USA.; Powis Z; Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Willing MC; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA.; Manwaring L; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA.; Schot R; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.; Nava C; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.; Afenjar A; Service de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, France.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistrasse 52, 20246 Hamburg, Germany.; Wagner M; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.; Winkelmann J; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Catarino CB; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany.; Retterer K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Schuette JL; Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.; Innis JW; Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.; Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.; Lüttgen S; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.; Denecke J; Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.; Strom TM; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Monaghan KG; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Yuan ZF; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.; Bend R; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Lee JA; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Lyons MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Hoefele J; Institut für Humangenetik, Technische Universität München, Munich, Germany.; Günthner R; Department of Nephrology, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany.; Institute of Human Genetics, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany.; Reutter H; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University Hospital Bonn & Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.; Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.; Radtke K; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Sherbini O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.; Mrokse C; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Helbig KL; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Odent S; CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, University Rennes1, Rennes, France.; Cogne B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Mercier S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Bezieau S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Besnard T; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Kury S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Redon R; INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.; Reinson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Wojcik MH; Division of Genetics and Genomics and Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Broad Institute, Cambridge, MA 02142, USA.; Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Ilves P; Radiology Department of Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Innes AM; Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H8L1, Canada.; Newborn Screening Ontario (NSO), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Costain G; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; Meyn MS; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Center for Human Genomics and Precision Medicine, School of Medicine and Public Health, University of Wisconsin - Madison, Madison, Wisconsin 53705, USA.; Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada.; Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Kitson H; Department of Pediatrics, University of British Columbia, Vancouver, Canada.; Martin MG; Division of Gastroenterology and Nutrition, Department of Pediatrics, Mattel Children's Hospital, Los Angeles, CA 90095, USA.; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and the David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Nelson SF; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Palmer CGS; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Institute for Society and Genetics, Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Papp JC; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Parker NH; David Geffen School of Medicine, Los Angeles, CA 90095, USA.; Sinsheimer JS; Institute for Society and Genetics, Departments of Human Genetics, Biomathematics, and Biostatistics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Vilain E; Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA.; Wan J; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Yoon AJ; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Zheng A; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.; Brimble E; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA 94305, USA.; Ferrero GB; Department of Public Health and Pediatrics, University of Torino, Turin, Italy.; Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Carli D; Department of Public Health and Pediatrics, University of Torino, Turin, Italy.; Barresi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Thomas JM; Pediatrics and Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Umana L; Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Weiss MM; Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands.; Gotway G; Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Stuurman KE; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Vøllo A; Department of Pediatrics, Hospital of Østfold, 1714 Grålum, Norway.; Prescott T; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Laulund LW; H.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Byler M; SUNY Upstate Medical University, Syracuse, NY 13210, USA.; Lebel RR; SUNY Upstate Medical University, Syracuse, NY 13210, USA.; Hurst AC; University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Dean J; University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk VA 23507, USA.; Norman J; INTEGRIS Pediatric Neurology, Oklahoma City, OK 73112, USA.; Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; Neira J; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.; Van Allen MI; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Medical Genetics Programs, Provincial Health Shared Services BC and Vancouver Island Health Shared Services BC, Canada.; Longo N; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA.; Sellars E; University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Cathey SS; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Brokamp E; Vanderbilt University, Nashville, TN 37203, USA.; Heron D; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.; Snyder M; Child Neurology, UT Southwestern Medical Center, Dallas, TX 75390, USA.; Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA.; Simon C; Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.; de la Cruz X; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.; Padilla N; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Crump JG; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.; Chung W; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.; Garcia B; Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.; Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Hakonarson HH; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. bhoje@email.chop.edu.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Gripp KW; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Bennett JT; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Department of Pediatrics, University of Washington, Seattle, Washington.; Baker L; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.; Tusi J; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.; Powell-Hamilton N; Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.; Stabley D; Center for Applied Clinical Genomics, A. I. duPont Hospital for Children, Wilmington, Delaware.; Sol-Church K; Center for Applied Clinical Genomics, A. I. duPont Hospital for Children, Wilmington, Delaware.; Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington.; Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.

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

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Berland, S.; Moortgat, S.; Aukrust, I.; Maystadt, I.; Baker, L.; Benoit, V.; Cooper, N. S.; Francois-Guillaume, D.; Faivre, L.; Gardeitchik, T.; Haukanes, B. I.; Houge, G.; Kivuva, E.; Mehta, S.; Nassogne, M.; Powell-Hamilton, N.; Pfundt, R.; Rosello Piera, M.; Prescott, T.; Vasudevan, P.; van Loon, B.; Verellen-Dumoulin, C.; Verloes, A.; von der Lippe, C.; Wakeling, E.; Wilkie, A. O. M.; Wilson, L.; Yuen, A. L.; Newbury-Ecob, R. A.; Low, K. J.; DDD-Study

EUROPEAN JOURNAL OF HUMAN GENETICS; OCT 2018, 26 p336-p337, 2p. Supplement: S

Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium. stephanie.moortgat@ipg.be.; Berland S; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.; Aukrust I; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.; Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium.; Baker L; Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Benoit V; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium.; Caro-Llopis A; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Cooper NS; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Debray FG; Department of Medical Genetics, CHU Sart-Tilman, Liège, Belgium.; Faivre L; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies Du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Haukanes BI; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.; Houge G; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.; Kivuva E; Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, EX1 2ED, UK.; Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Mehta SG; East Anglian Medical Genetics Service, Cambridge, UK.; Nassogne MC; Département de Neuropédiatrie, Cliniques Universitaires Saint-Luc, Brussels, 1200, Belgium.; Powell-Hamilton N; Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Prescott T; Department of Medical Genetics, Telemark Hospital, Skien, Norway.; Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester, UK.; van Loon B; Department of Cancer Research and Molecular Medicine, Faculty of Medicine and Health Sciences, NTNU, Trondheim, Norway.; Verellen-Dumoulin C; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium.; Verloes A; Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Paris, France.; Lippe CV; Departement of Medical Genetics, Trondheim University Hospital, Trondheim, Norway.; Wakeling E; North West Thames Regional Genetics Service, London North West Hospitals NHS Trust, Harrow, UK.; Wilkie AOM; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Wilson L; Clinical Genetics, Great Ormond Street Hospital for Children NHS foundation Trust, London, UK.; Yuen A; Genomics Institute, MultiCare Health System, Tacoma, WA, USA.; Study D; Wellcome Trust Sanger Institute, Cambridgeshire, UK.; Low KJ; University Hospitals Bristol NHS Trust/University of Bristol, Bristol, UK.; Newbury-Ecob RA; University Hospitals Bristol NHS Trust/University of Bristol, Bristol, UK.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE