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Works
9
Health and population effects of rare gene knockouts in adult humans with related parents
Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space
Analysis of protein-coding genetic variation in 60,706 humans
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
Using high-resolution variant frequencies to empower clinical genome interpretation
ClinVar data parsing
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Using high-resolution variant frequencies to empower clinical genome interpretation.
