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American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
European Journal of Human Genetics : EJHG|August 30, 2012
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalitiesSeema R Lalani, Chad Shaw, Xueqing Wang, et al.
The New England Journal of Medicine|October 23, 2024
Neurodevelopmental Disorder Caused by Deletion of <i>CHASERR</i>, a lncRNA GeneVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2024
Improving access to exome sequencing in a medically underserved population through the Texome ProjectBlake Vuocolo, Ryan J German, Seema R Lalani, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Novel syndromic neurodevelopmental disorder caused by <i>de novo</i> deletion of <i>CHASERR</i>, a long noncoding RNAVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
Genome Research|May 10, 2013
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traitsPiotr Dittwald, Tomasz Gambin, Przemyslaw Szafranski, et al.
American Journal of Human Genetics|August 5, 2014
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disordersIan M Campbell, Bo Yuan, Caroline Robberecht, et al.
Lancet (London, England)|September 6, 2020
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trialRavi Savarirayan, Louise Tofts, Melita Irving, et al.
Cell|February 25, 2017
An Organismal CNV Mutator Phenotype Restricted to Early Human DevelopmentPengfei Liu, Bo Yuan, Claudia M B Carvalho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2021
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension studyRavi Savarirayan, Louise Tofts, Melita Irving, et al.
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