Concepedia

Jennifer Heeley

JH

13

Publications

654

Citations

13

H-Index

2004

Active since

Affiliations

Washington University in St. Louis(Current)

Mercy Children's Hospital

Mercy Hospital

Johns Hopkins University

University Medical Center Groningen

Jennifer Heeley is an author at Washington University in St. Louis specializing in medicine, genetics, and developmental biology.

ORCID

Top concepts

Publications per year

2004–2022

13

Publications

13

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

Dustin Baldridge, Jennifer Heeley, Marisa Vineyard et al. · Genetics in Medicine · 2017 · 119 citations · Full text

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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

Janson J. White, Juliana F. Mazzeu, Zeynep Coban‐Akdemir et al. · The American Journal of Human Genetics · 2017 · 110 citations · Full text

, , +6

Mobile element insertion detection in 89,874 clinical exomes

Rebecca I. Torene, Kevin Galens, Shuxi Liu et al. · Genetics in Medicine · 2020 · 62 citations · Full text

Multi‐systemic involvement in NGLY1‐related disorder caused by two novel mutations

Jennifer Heeley, Marwan Shinawi · American Journal of Medical Genetics Part A · 2015 · 60 citations

Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability

Genay Pilarowski, Hilary J. Vernon, Carolyn Applegate et al. · Journal of Medical Genetics · 2017 · 60 citations · Full text

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