Chaim Jalas

A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen, Laurent C. Francioli, Julia K. Goodrich et al. · Nature · 2023 · 1.1K citations · Full text

Medicine, Genetics, Evolutionary Biology +8

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

Simon Edvardson, Yuval Cinnamon, Asaf Ta‐Shma et al. · PLoS ONE · 2012 · 312 citations · Full text

A multicenter, prospective, blinded, nonselection study evaluating the predictive value of an aneuploid diagnosis using a targeted next-generation sequencing–based preimplantation genetic testing for aneuploidy assay and impact of biopsy

Ashley W. Tiegs, Xin Tao, Yiping Zhan et al. · Fertility and Sterility · 2020 · 249 citations

Genetic Testing, Genetics, Diagnosis +18

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

Aleksejs Sazonovs, Christine Stevens, Guhan Venkataraman et al. · Nature Genetics · 2022 · 174 citations · Full text

Genome-wide Association Study, Disease Susceptibility, Autoimmune Disease +8

DGAT1 mutation is linked to a congenital diarrheal disorder

Joel T. Haas, Harland S. Winter, Elaine T. Lim et al. · Journal of Clinical Investigation · 2012 · 156 citations

Functional Gastrointestinal Disorder, Mendelian Disorder, Genetic Disorder +12