Long read sequencing and expression studies of<i>AHDC1</i>deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism
Varuna Chander(Baylor College of Medicine), Richard A. Gibbs(Baylor College of Medicine), Jennifer E. Posey(Baylor College of Medicine), Zain Dardas(Baylor College of Medicine), Qingchang Meng(Baylor College of Medicine), George Weissenberger(Baylor College of Medicine), Hua Shen(Second Military Medical University), Viktoriya Korchina(Baylor College of Medicine), Marie‐Claude Gingras(Baylor College of Medicine), Fritz J. Sedlazeck(Baylor College of Medicine), Donna M. Muzny(Baylor College of Medicine), Medhat Mahmoud(Baylor College of Medicine), Michael M. Khayat(Baylor College of Medicine), HarshaVardhan Doddapaneni(Baylor College of Medicine), David R. Murdock(The University of Texas Health Science Center), Shalini N. Jhangiani(Baylor College of Medicine), Aniko Sabo(Washington University in St. Louis), Shoudong Li(Baylor College of Medicine), Moez Dawood(Baylor College of Medicine), He Li(Baylor College of Medicine), James R. Lupski(Baylor College of Medicine), Jianhong Hu(Baylor College of Medicine), Christopher M. Grochowski(Baylor College of Medicine)
Cited by 15
Related Papers
A global reference for human genetic variation
|Nature|2015|19.9k
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
|Nature Biotechnology|2019|2k
Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in <i>NOTCH1</i>
|Science|2011|1.7k
Evolutionary and Biomedical Insights from the Rhesus Macaque Genome
|Science|2007|1.4k