Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
Alexander M. Holtz(Boston Children's Hospital), Benjamin A. Raby(Brigham and Women's Hospital), Theresa Brunet(Helmholtz Zentrum München), Kimberly A. Aldinger(Seattle Children's Hospital), Caleb Bupp(Spectrum Health), Julien Buratti(Sorbonne Université), Ingrid M. Wentzensen, Christina Parkinson(McMaster Children's Hospital), Solveig Heide(Sorbonne Université), Georgia Vasileiou(Friedrich-Alexander-Universität Erlangen-Nürnberg), Shade Moody(The University of Texas Health Science Center at Houston), Amel Karaa(Istituto delle Scienze Neurologiche di Bologna), Deanna Alexis Carere(GenVec), Elizabeth VanSickle(Spectrum Health), Francisca Millan, Benjamin Haber(Heidelberg University), Emanuela Argilli(University of California, San Francisco), Thomas Courtin(Sorbonne Université), Julia Hoefele(Institute of Human Genetics), Urania Kotzaeridou(Heidelberg University), Erin Torti, William B. Dobyns(University of Minnesota), Matias Wagner(Helmholtz Zentrum München), Susan L. Sell(Penn State Milton S. Hershey Medical Center), Serini Murugasen(University of Cape Town), Jada Pugh(Johns Hopkins University), Cyril Mignot(Sorbonne Université), María J. Guillen Sacoto, Elliott H. Sherr(University of California, San Francisco), Emily O’Heir(MACOM (United States)), Kirsten A. Donald(University of Cape Town), André Reis(Universitätsklinikum Erlangen), Jeremy W. Prokop(HudsonAlpha Institute for Biotechnology), Kara Withrow, Mariya Kozenko(McMaster University), Miguel Del Campo(Vall d'Hebron Hospital Universitari), Rachel VanCoillie(Spectrum Health), Grace Yoon(University of Toronto), Patricia Gordon(University of Ulster), Yue Si, Delphine Héron(Sorbonne Université), Barbara K. Burton(Women & Children's Hospital of Buffalo), Diane Masser‐Frye(Rady Children's Hospital-San Diego), Richard Person(GenVec), Melissa Rieger(Friedrich-Alexander-Universität Erlangen-Nürnberg), Katherine H. Kim(Northwestern University), Jane Juusola, Boris Keren(Sorbonne Université)
Cited by 23
Related Papers
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k
Brain charts for the human lifespan
|Nature|2022|1.8k