부산대학교 도서관

Mattison, KA; Tossing, G; Mulroe, F; Simmons, C; Butler, KM; Schreiber, A; Alsadah, A; Neilson, DE; Naess, K; Wedell, A; Wredenberg, A; Sorlin, A; McCann, E; Burghel, GJ; Menendez, B; Hoganson, GE; Botto, LD; Filloux, FM; Aledo-Serrano, A; Gil-Nagel, A; Tatton-Brown, K; Verbeek, NE; van der Zwaag, B; Aleck, KA; Fazenbaker, AC; Balciuniene, J; Dubbs, HA; Marsh, ED; Garber, K; Ek, J; Duno, M; Hoei-Hansen, CE; Deardorff, MA; Raca, G; Quindipan, C; van Hirtum-Das, M; Breckpot, J; Hammer, TB; Moller, RS; Whitney, A; Douglas, AGL; Kharbanda, M; Brunetti-Pierri, N; Morleo, M; Nigro, V; May, HJ; Tao, JX; Argilli, E; Sherr, EH; Dobyns, WB; Baines, RA; Warwicker, J; Parker, JA; Banka, S; Campeau, PM; Escayg, A

Brain : a journal of neurology. 146(4):1357-1372

Jeanne, M; Demory, H; Moutal, A; Vuillaume, ML; Blesson, S; Thepault, RA; Marouillat, S; Halewa, J; Maas, SM; Motazacker, MM; Mancini, GMS; Van Slegtenhorst, MA; Andreou, A; Cox, H; Vogt, J; Laufman, J; Kostandyan, N; Babikyan, D; Hancarova, M; Bendova, S; Sedlacek, Z; Aldinger, KA; Sherr, EH; Argilli, E; England, EM; Audebert-Bellanger, S; Bonneau, D; Colin, E; Denomme-Pichon, AS; Gilbert-Dussardier, B; Isidor, B; Kury, S; Odent, S; Redon, R; Khanna, R; Dobyns, WB; Bezieau, S; Honnorat, J; Lohkamp, B; Toutain, A; Laumonnier, F

American journal of human genetics. 108(5):951-961

Accogli, Andrea; Zaki, Maha S; Al-Owain, Mohammed; Otaif, Mansour Y; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E; De Goede, Christian GEL; Cora, Tülün; Alvi, Javeria Raza; Eslahi, Atieh; Asl Mohajeri, Mahsa Sadat; Ashtiani, Setareh; Au, PY Billie; Scocchia, Alicia; Alakurtti, Kirsi; Pagnamenta, Alistair T; Toosi, Mehran Beiraghi; Ghayoor Karimiani, Ehsan; Mojarrad, Majid; Arab, Fatemeh; Duymuş, Fahrettin; Scantlebury, Morris H; Yeşil, Gözde; Rosenfeld, Jill Anne; Türkyılmaz, Ayberk; Sağer, Safiye Güneş; Sultan, Tipu; Ashrafzadeh, Farah; Zahra, Tatheer; Rahman, Fatima; Maqbool, Shazia; Abdel-Hamid, Mohamed S; Issa, Mahmoud; Efthymiou, Stephanie; Bauer, Peter; Zifarelli, Giovanni; Salpietro, Vincenzo; Al-Hassnan, Zuhair; Banka, Siddharth; Sherr, Elliot H; Gleeson, Joseph G; Striano, Pasquale; Houlden, Henry; Severino, Mariasavina; Maroofian, Reza

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O’Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Bönnemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Töpf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O’Donnell-Luria, Anne

In The American Journal of Human Genetics 2 May 2024 111(5):863-876

Il Foro Italiano, 1913 Jan 01. 38, 477/478-477/478.

Heide S; Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France solveig.heide@aphp.fr.; Argilli E; Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, USA.; Valence S; Department of Neuropediatry & Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Hopital Armand-Trousseau, Paris, France.; Boutaud L; Genomic medicine of rare diseases, UF MP5, Hopital universitaire Necker-enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Roux N; Genomic medicine of rare diseases, UF MP5, Hopital universitaire Necker-enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Mignot C; Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France.; Nava C; Department of Genetics, Unit of Developmental Genomics, AP-HP.Sorbonne Université, Pitié-Salpêtrière Hospital, Paris, France.; Keren B; Department of Genetics, Unit of Developmental Genomics, AP-HP.Sorbonne Université, Pitié-Salpêtrière Hospital, Paris, France.; Giraudat K; Department of Neuropediatry & Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Hopital Armand-Trousseau, Paris, France.; Faudet A; Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France.; Gerasimenko A; Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France.; Garel C; Department of pediatric and prenatal imaging, Armand-Trousseau Hospital, Sorbonne Université, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.; Blondiaux E; Department of pediatric and prenatal imaging, Armand-Trousseau Hospital, Sorbonne Université, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.; Rastetter A; Paris Brain Institute (ICM Institut du Cerveau), Sorbonne Université, INSERM UMR S 1127, Paris, France.; Grevent D; Radiology Department, Hopital universitaire Necker-enfants Malades, Paris, France.; EA fetus 7328 and LUMIERE Platform, Université de Paris, Paris, France.; Le C; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, USA.; Department of Neurology, University of California, Institute of Human Genetics and Weill Institute for Neurosciences, San Francisco, California, USA.; Mackenzie L; Department of Neuroscience, Washington University in St Louis School of Medicine, St Louis, Missouri, USA.; Richards L; Department of Neuroscience, Washington University in St Louis School of Medicine, St Louis, Missouri, USA.; Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia.; Attié-Bitach T; Genomic medicine of rare diseases, UF MP5, Hopital universitaire Necker-enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Depienne C; Institute of Human Genetics, University Hospital Essen, Universitu Duisburg-Essen, Essen, Germany.; Sherr E; Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, USA.; Héron D; Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP.Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, Paris, 75013, France, Paris, France.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Duncan, Anna R; Polovitskaya, Maya M; Gaitán-Peñas, Héctor; Bertelli, Sara; VanNoy, Grace E; Grant, Patricia E; O’Donnell-Luria, Anne; Valivullah, Zaheer; Lovgren, Alysia Kern; England, Elaina M; Agolini, Emanuele; Madden, Jill A; Schmitz-Abe, Klaus; Kritzer, Amy; Hawley, Pamela; Novelli, Antonio; Alfieri, Paolo; Colafati, Giovanna Stefania; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Koch-Hogrebe, Margarete; Jamra, Rami Abou; Neira-Fresneda, Juanita; Lehman, Anna; Boerkoel, Cornelius F; Seath, Kimberly; Clarke, Lorne; Study, CAUSES; van Ierland, Yvette; Argilli, Emanuela; Sherr, Elliott H; Maiorana, Andrea; Diel, Thilo; Hempel, Maja; Bierhals, Tatjana; Estévez, Raúl; Jentsch, Thomas J; Pusch, Michael; Agrawal, Pankaj B

American Journal of Human Genetics. 108(8)

Früh S; Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.; Boudkkazi S; Institute of Physiology II, University of Freiburg, Hermann-Herderstrasse 7, 79104 Freiburg, Germany.; Koppensteiner P; Institute of Science and Technology Austria (IST Austria), Klosterneuburg, Austria.; Sereikaite V; Center for Biopharmaceuticals, Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.; Chen LY; Department of Biomedical Sciences, Faculty of Biology and Medicine, University of Lausanne, Rue du Bugnon 7, 1005 Lausanne, Switzerland.; Fernandez-Fernandez D; Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.; Rem PD; Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.; Ulrich D; Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.; Schwenk J; Institute of Physiology II, University of Freiburg, Hermann-Herderstrasse 7, 79104 Freiburg, Germany.; Chen Z; Center for Biopharmaceuticals, Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.; Le Monnier E; Institute of Science and Technology Austria (IST Austria), Klosterneuburg, Austria.; Fritzius T; Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.; Innocenti SM; Biocenter, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.; Besseyrias V; Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.; Trovò L; Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.; Stawarski M; Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.; Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; van Bon B; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525, Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525, Netherlands.; Iascone M; Laboratorio Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.; Pilotta A; UO Pediatria, Spedali Civili, Brescia, Italy.; Cutrì MR; UO Pediatria, Spedali Civili, Brescia, Italy.; Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Hernández-García A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Baylor Genetics, Houston, TX 77021, USA.; Vogel TP; Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Center for Human Immunobiology, Texas Children's Hospital, Houston, TX 77030, USA.; Ona H; Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Center for Human Immunobiology, Texas Children's Hospital, Houston, TX 77030, USA.; Scott DA; 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.; Scheiffele P; Biocenter, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.; Strømgaard K; Center for Biopharmaceuticals, Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.; Tafti M; Department of Biomedical Sciences, Faculty of Biology and Medicine, University of Lausanne, Rue du Bugnon 7, 1005 Lausanne, Switzerland.; Gassmann M; Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.; Fakler B; Institute of Physiology II, University of Freiburg, Hermann-Herderstrasse 7, 79104 Freiburg, Germany.; Shigemoto R; Institute of Science and Technology Austria (IST Austria), Klosterneuburg, Austria.; Bettler B; Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.

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

Schilstrom, B; Yaka, R; Argilli, E; Suvarna, N; Schumann, J; Chen, BT; Carman, M; Singh, V; Mailliard, WS; Ron, D; Bonci, A

The Journal of neuroscience : the official journal of the Society for Neuroscience. 26(33):8549-8558

Rinaldi B; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.; Bayat A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230Denmark.; Zachariassen LG; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Sun JH; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Zhejiang Key Laboratory of Organ Development and Regeneration, College of Life and Environmental Sciences, Hangzhou Normal University, Hangzhou 310030, China.; Ge YH; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing 210032, China.; Zhao D; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Bonde K; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Madsen LH; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Awad IAA; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Bagiran D; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Sbeih A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Shah SM; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; El-Sayed S; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Lyngby SM; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Pedersen MG; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Stenum-Berg C; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Walker LC; Department of Chemistry and Biomolecular Sciences, University of Ottawa, Ottawa K1H 8M5, Canada.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.; Delahaye-Duriez A; Unité fonctionnelle de médecine génomique et génétique clinique, Hôpital Jean Verdier, Assistance Publique des Hôpitaux de Paris, Bondy 93140, France.; NeuroDiderot, UMR 1141, Inserm, Université Paris Cité, Paris 75019, France.; UFR SMBH, Université Sorbonne Paris Nord, Bobigny 93000, France.; Emrick LT; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Sully K; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Plaud Gonzalez JA; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Parnes M; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Pediatric Movement Disorders Clinic, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.; Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA 92123, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA 92123, USA.; Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Lefranc J; Pediatric Neurophysiology Department, CHU de Brest, Brest 29200, France.; Redon S; Service de Génétique Médicale, CHU de Brest, Brest 29200, France.; Université de Brest, CHU de Brest, UMR 1078, Brest F29200, France.; Heron D; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France.; Mignot C; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France.; Keren B; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, Paris 75013, France.; Fradin M; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes 35200, France.; Dubourg C; Service de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes 35200, France.; Université de Rennes, CNRS, Institut de Genetique et Developpement de Rennes, UMR 6290, Rennes 35200, France.; Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.; Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.; Cogne B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.; Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.; Rivier C; Department of Paediatrics, Villefranche-sur-Saône Hospital, Villefranche-sur-Saône 69655, France.; Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.; Bedeschi MF; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.; Di Napoli C; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.; Grilli F; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.; Marchisio P; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Pneumoinfettivologia, Milan 20122, Italy.; University of Milan, Milan 20122, Italy.; Koudijs S; Department of Neurology, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands.; Veenma D; Department of Pediatrics, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands.; Argilli E; Institute of Human Genetics, University of California, San Francisco, CA 94143, USA.; Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, CA 94143, USA.; Lynch SA; Department of Clinical Genetics, Children's Health Ireland Crumlin, Dublin D12 N512, Ireland.; Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Ayala Valenzuela FE; Hospital Angeles Tijuana, Tijuana 22010, Mexico.; Brown C; Illumina Inc, San Diego, CA 92122, USA.; Masser-Frye D; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.; Jones M; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.; Patron Romero L; Facultad de Medicina y Psicología, Universidad Autónoma de Baja California, Tijuana 22010, Mexico.; Li WL; Breakthrough Genomics Inc, Irvine, CA 92618, USA.; Thorpe E; Illumina Inc, San Diego, CA 92122, USA.; Hecher L; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany.; Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany.; Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany.; McNiven V; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Fred A Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON M5G 2C4, Canada.; Szuto A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1E8, Canada.; Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Cruz V; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA.; Sency V; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA.; Wang H; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA.; Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon 25000, France.; UMR 1231 GAD, Inserm, Université de Bourgogne Franche-Comté, Dijon 21000, France.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.; Condell A; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Ben-Zeev B; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan 52621, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv 4R73+8Q, Israel.; Kaur S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia.; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales 2050, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NewSouth Wales 2050, Australia.; Piton A; Hôpitaux Universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg 67000, France.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern 3010, Switzerland.; Kraus C; 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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