References
Mar 13, 1999·Developmental Medicine and Child Neurology·E CardoH J Blom
Jun 21, 2001·Annals of Neurology·E E KorsM D Ferrari
Jun 26, 2003·Nucleic Acids Research·Pauline C Ng, Steven Henikoff
May 21, 2005·Science·Douglas B GouldSimon W M John
Jan 24, 2006·Nature Genetics·Yoshio IkedaLaura P W Ranum
May 10, 2006·Archives of Neurology·Francesca CrippaMaria Teresa Bassi
Jun 20, 2006·Developmental Medicine and Child Neurology·Ann-Christin EliassonPeter Rosenbaum
Jun 15, 2007·Pediatric Neurology·Marcia A BlairPeter Hedera
Oct 7, 2008·Developmental Medicine and Child Neurology·Robert J PalisanoMichael H Livingston
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Mar 11, 2010·BMC Neurology·Mark BraschinskySulev Haldre
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Apr 1, 2010·Nature Methods·Gregory M CooperDeborah A Nickerson
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Jul 21, 2010·Genome Research·Aaron McKennaMark A DePristo
Jun 29, 2011·Developmental Medicine and Child Neurology·Mary Jo Cooley HideckerKara Taylor
Nov 6, 2012·Developmental Medicine and Child Neurology·Yurika NumataKazuhiro Haginoya
Jan 26, 2013·Developmental Medicine and Child Neurology·Maryam OskouiTamara Pringsheim
Aug 6, 2013·Cell·Naiara AkizuJoseph G Gleeson
Aug 13, 2013·Nature·Andrew S AllenMelodie R Winawer
Nov 1, 2013·Nucleic Acids Research·Jeffrey R MacDonaldStephen W Scherer
Feb 1, 2014·Science·Gaia NovarinoJoseph G Gleeson
Feb 4, 2014·Nature Genetics·Martin KircherJay Shendure
May 20, 2014·Journal of the Neurological Sciences·Nuria García SegarraEliane Roulet-Perez
Jun 1, 2014·European Journal of Endocrinology·Ana P M CantonAlexander A L Jorge
Jun 24, 2014·Experimental Neurology·Temistocle Lo GiudiceAntonio Orlacchio
Jun 24, 2014·PloS One·Maiko NaraharaRyo Yamada
Jul 10, 2014·Research in Developmental Disabilities·Sarah SherwellRobyn Stargatt
Aug 19, 2014·Annals of Neurology·Siddharth SrivastavaAli Fatemi
Oct 5, 2014·Neuromolecular Medicine·Ryan W LeeAli Fatemi
Oct 20, 2014·Human Genetics·Alma KuechlerDagmar Wieczorek
Feb 11, 2015·Molecular Psychiatry·G McMichaelA H MacLennan
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Mar 31, 2015·Neurology·Reeval SegelEphrat Levy-Lahad
Apr 10, 2015·Journal of Child Neurology·Lidia V GabisShahar Shefer
May 15, 2015·European Journal of Human Genetics : EJHG·Hirotomo SaitsuNaomichi Matsumoto
May 20, 2015·Brain : a Journal of Neurology·Ricardo Parolin SchnekenbergAndrea H Németh
May 25, 2015·American Journal of Obstetrics and Gynecology·Alastair H MacLennanJozef Gecz
Jun 11, 2015·Journal of Child Neurology·Neil KulkarniTheresa A Grebe
Aug 4, 2015·Nature Communications·Maryam OskouiStephen W Scherer
Aug 21, 2015·Neurology·Katherine B HowellIngrid E Scheffer
Feb 13, 2016·Neurology·Hannah StambergerSarah Weckhuysen
Feb 26, 2016·Journal of Human Genetics·Koichiro HigasaFumihiko Matsuda
Jul 15, 2016·Science Translational Medicine·Yu MiyazakiChristopher M Gomez
Citations
Mar 27, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Toni S PearsonCarolyn M Sue
Apr 5, 2019·Annals of Neurology·Shinya IwasawaShigeo Kure
Jun 17, 2020·Developmental Medicine and Child Neurology·Ryan PhamJesia G Berry
Aug 22, 2018·Annals of Clinical and Translational Neurology·Yusuke TakezawaShigeo Kure
Apr 10, 2019·Journal of Child Neurology·Alastair H MacLennanJozef Gecz
Jun 14, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Maria João MalaquiasMarina Magalhães
Aug 28, 2020·Frontiers in Pediatrics·Gina FongZubair H Aghai
Sep 30, 2020·Nature Genetics·Sheng Chih JinMichael C Kruer
Aug 22, 2018·Annals of Clinical and Translational Neurology·Alastair MacLennanLuis Pérez-Jurado
Jun 18, 2019·Journal of Central Nervous System Disease·Shahad AlSaifMajid Alfadhel
Nov 9, 2019·NPJ Genomic Medicine·C L van EykJ Gecz
Dec 14, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Allison M MatthewsUNKNOWN TIDE BC, United for Metabolic Diseases and the CAUSES Study
Jan 12, 2021·Molecular Genetics and Metabolism·Michael Shevell
Jan 13, 2021·Nature Communications·Jun TakayamaGen Tamiya
Feb 9, 2021·Frontiers in Neurology·Sara A LewisMichael C Kruer
Nov 13, 2020·Pediatric Research·Monica RoselloMiguel Tomás
Nov 5, 2020·BMC Pediatrics·Luan Freitas OliveiraAngelica Francesca Maris
Feb 27, 2021·Brain Communications·Neil V MorganEamonn R Maher
Oct 28, 2020·Journal of Internal Medicine·A LegrandJ Albuisson
Nov 11, 2019·American Journal of Ophthalmology·Mai-Lan HoMichael C Brodsky
Mar 30, 2021·Molecular Genetics and Metabolism·Gabriella A HorvathCarlos R Ferreira
Aug 20, 2019·Annals of Physical and Rehabilitation Medicine·Stéphane ChabrierMickael Dinomais
Jun 12, 2021·Developmental Medicine and Child Neurology·Halie J MayJason B Carmel
Jul 30, 2021·Journal of Medical Genetics·Michal YechieliReeval Segel
Aug 9, 2021·Molecular Genetics and Metabolism·Haifa Al ZahraniHelly Goez
Aug 31, 2021·Brain & Development·Moriei ShibuyaKazuhiro Haginoya
Sep 18, 2021·NPJ Genomic Medicine·C L van EykJ Gecz
Dec 12, 2021·American Journal of Medical Genetics. Part a·Ruth RichardsonMeena Balasubramanian