
Penny Chow
Physician · University of Washington School of Medicine
Credentials: · ·
History
Research
Targeted long-read sequencing identifies missing disease-causing variation
The American Journal of Human Genetics · 2021 · 181 citations
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
Genetics in Medicine · 2021 · 29 citations
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3
Case report · European Journal of Human Genetics · 2015 · 26 citations

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