Concepedia

Penny Chow

PC

Statistics

Publications

4

Citations

337

H-Index

4

Active since

2014

Affiliations

University of Washington(Current)

Seattle Children's Hospital

Children's Hospital of Philadelphia

University of Pennsylvania

Penny Chow is an author at University of Washington specializing in medicine, genomics, and fragile x premutation.

Top concepts

MedicineGeneticsGenomicsPathologyPediatricsSequencingEpidemiologyChild DevelopmentAutoimmune DiseaseFragile X Spectrum

Publications per year

2014–2023

4

Publications

4

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller, Arvis Sulovari, Tianyun Wang et al. · The American Journal of Human Genetics · 2021 · 227 citations · Full text

Long-read Sequencing, Long-read Sequencing Identifies, Next-generation Sequencing +4

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

Mari Tokita, Penny Chow, Ghayda Mirzaa et al. · European Journal of Human Genetics · 2014 · 62 citations · Full text

Pediatrics, Child Development

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

Dong Li, Alanna Strong, Kaitlyn M Shen et al. · Genetics in Medicine · 2020 · 32 citations · Full text

Hardikar Syndrome, Allelic Variant, Mendelian Disorder +12

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Sarah E. Sheppard, Laura Bryant, Rochelle N. Wickramasekara et al. · Science Advances · 2023 · 16 citations · Full text

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