References
Feb 3, 2006·Nature·Frederic BardVivek Malhotra
Sep 9, 2008·Molecular and Cellular Neurosciences·T M MaynardA-S Lamantia
Apr 14, 2012·Journal of Medical Genetics·Tobias B HaackHolger Prokisch
Sep 4, 2012·Bioinformatics·Vincent PlagnolSergey Nejentsev
Nov 28, 2012·American Journal of Human Genetics·Tobias B HaackSusan J Hayflick
Jun 15, 2013·Biochimie·Jean Bastin
Jul 25, 2014·JAMA : the Journal of the American Medical Association·Robert W TaylorPatrick F Chinnery
Feb 7, 2015·American Journal of Human Genetics·Gloria Brea-CalvoDaniele Ghezzi
May 23, 2015·Annals of Clinical and Translational Neurology·Tobias B HaackThomas Klopstock
Jul 30, 2015·The Journal of Biological Chemistry·Eleonora NapoliCecilia Giulivi
Sep 1, 2015·Current Neurology and Neuroscience Reports·Emanuele BarcaSalvatore Billi DiMauro
Citations
May 26, 2016·Human Genetics·James R Lupski
Aug 23, 2016·American Journal of Human Genetics·Tobias B HaackThomas Klopstock
Dec 17, 2016·Nucleic Acids Research·Tomasz GambinJames R Lupski
Dec 23, 2016·Brain : a Journal of Neurology·Johannes KochTobias B Haack
Jan 4, 2017·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Prakash Devaraju, Stanislav S Zakharenko
Mar 30, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lisa J EwansTony Roscioli
Jul 28, 2016·Molecular Psychiatry·S RiazuddinS Riazuddin
Sep 25, 2017·Genome Medicine·Tomasz GambinPaweł Stankiewicz
Jul 12, 2018·PloS One·Vicente A YépezJulien Gagneur
Nov 1, 2018·American Journal of Medical Genetics. Part a·Bernice E MorrowPeter J Scambler
Aug 19, 2018·Journal of Medical Genetics·Miroslav P MilevPeter M van Hasselt
Sep 7, 2017·Genetics·Michael F WanglerHugo J Bellen
Jul 6, 2019·Journal of Inherited Metabolic Disease·Elizabeth JennionsNiklas Darin
Jul 25, 2019·Journal of Inherited Metabolic Disease·Nadja MingirulliRita Horvath
Mar 8, 2019·Journal of Medical Genetics·Yaser Rafiq Mir, Raja Amir Hassan Kuchay
Jun 9, 2019·Journal of Neurodevelopmental Disorders·Zahra MotahariAnthony-Samuel LaMantia
Jul 19, 2017·Current Opinion in Pediatrics·Gregory M Enns
Dec 3, 2016·Oncotarget·Danielle M KaryadiElaine A Ostrander
Sep 11, 2020·Journal of Inherited Metabolic Disease·Miroslav P MilevMichael Sacher
Sep 16, 2020·Journal of Inherited Metabolic Disease·Claire-Marine BératPascale de Lonlay
Mar 23, 2017·Genome Medicine·Mohammad K EldomeryJames R Lupski
Mar 24, 2020·F1000Research·Malavika Hebbar, Heather C Mefford
Sep 2, 2020·Clinical Genetics·Muhammad UmairMajid Alfadhel
Jul 21, 2017·Human Mutation·Jennifer A WambachRobert Steinfeld
Sep 25, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jennifer N DinesHeather C Mefford
Jan 24, 2020·Movement Disorders Clinical Practice·Annemarie HübersJan Kassubek
Sep 15, 2017·Human Mutation·Saskia B WortmannRichard J Rodenburg
Mar 30, 2018·Journal of the Endocrine Society·Iman S Al-GadiShana E McCormack
Dec 22, 2020·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·C HoebekeB Chabrol
Sep 27, 2020·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·N KruijtN C Voermans
Apr 13, 2021·Pediatric Neurology·Allison R PowellSamuel J Mackenzie
Jul 21, 2021·Science·Minkyung BaekDavid Baker
Sep 29, 2021·Brain : a Journal of Neurology·Osorio Lopes Abath NetoCarsten G Bönnemann
Mar 18, 2019·Developmental Neuroscience·Sowmyalakshmi RasikaVincent El Ghouzzi