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Catherine Gooch

Director, Skeletal Dysplasia Clinic · Washington University/B-JH/SLCH Consortium

Credentials: · · · ·

History

Washington University/B-JH/SLCH Consortium
Present

Pediatrics
University of Alabama at Birmingham
2016–2019
Univ of Tennessee Coll of Med
2012–2016

Research

Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results
Case report · Clinical Genetics · 2021 · 48 citations
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
The American Journal of Human Genetics · 2024 · 29 citations
MFSD7c functions as a transporter of choline at the blood-brain barrier
Cell Research · 2024 · 20 citations

Nathaniel Robin
4 papers
Anna Hurst
3 papers
SS
Siddharth Srivastava
3 papers · 1 as a fellow
Amjad Horani
2 papers
AT
Andrew Timberlake
2 papers · 1 as a resident
Anne O’Donnell
2 papers
Christina Gurnett
2 papers
Elizabeth Roeder
2 papers
Hsiao-Tuan Chao
2 papers · 2 as a resident
IW
Ingrid Wentzensen
2 papers
Jeffrey Milbrandt
2 papers
Jennifer Posey
2 papers