Jessica X. Chong
The University of Chicago
19 papers found
Refreshing results…
Centers for Mendelian Genomics: A decade of facilitating gene discovery
UploadThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Download from www.ncbi.nlm.nih.govAutosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
Download from www.biorxiv.orgMutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
Download from www.ncbi.nlm.nih.govDisclosure of Genetic Research Results to Members of a Founder Population
Download from europepmc.orgSolving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
Download from www.ncbi.nlm.nih.govPractices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications
Download from www.ncbi.nlm.nih.govMosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
Download from www.ncbi.nlm.nih.govA Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population
Download from www.ncbi.nlm.nih.govEstimating the human mutation rate using autozygosity in a founder population
Download from www.nature.comMissing publications? Search for publications with a matching author name.