Concepedia

Ana C. Onuchic-Whitford

AC

9

Publications

273

Citations

9

H-Index

2019

Active since

Affiliations

Boston Children's Hospital(Current)

Brigham and Women's Hospital

Harvard University

Yale University

Rockefeller University

Ana C. Onuchic-Whitford is an author at Boston Children's Hospital specializing in medicine, genetics, and developmental biology.

ORCID

Top concepts

Publications per year

2019–2023

9

Publications

9

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Dervla M. Connaughton, Rufeng Dai, Danielle Owen et al. · The American Journal of Human Genetics · 2020 · 49 citations · Full text

, , +1

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome

Lina L. Kampf, Ronen Schneider, Lea Gerstner et al. · Journal of the American Society of Nephrology · 2019 · 41 citations · Full text

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

Steve Seltzsam, Chunyan Wang, Bixia Zheng et al. · Genetics in Medicine · 2021 · 36 citations · Full text

, , +7

Recessive <i>NOS1AP</i> variants impair actin remodeling and cause glomerulopathy in humans and mice

Amar J. Majmundar, Florian Buerger, Thomas Forbes et al. · Science Advances · 2021 · 31 citations · Full text

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

Ronen Schneider, Konstantin Deutsch, Gregory J. Hoeprich et al. · The American Journal of Human Genetics · 2020 · 30 citations · Full text

, , +7

Rows per page

1–5 of 9