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Works
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Analysis of protein-coding genetic variation in 60,706 humans
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
Strictly co-isogenic C57BL/6J-Prnp-/- mice: A rigorous resource for prion science
Using high-resolution variant frequencies to empower clinical genome interpretation
ClinVar data parsing
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome
Strictly co-isogenic C57BL/6J-Prnp โ/โ mice: A rigorous resource for prion science
