Concepedia

Erin Beaver

EB

6

Publications

313

Citations

6

H-Index

2017

Active since

Affiliations

Mercy Children's Hospital(Current)

Washington University in St. Louis

Johns Hopkins University

Mercy Hospital

Maastricht University

Erin Beaver is an author at Mercy Children's Hospital specializing in genetics, medicine, and molecular genetics.

Top concepts

Publications per year

2017–2020

6

Publications

6

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

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

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy

Jonathan Humbert, Smrithi Salian, Periklis Makrythanasis et al. · The American Journal of Human Genetics · 2020 · 35 citations · Full text

, , +10

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino et al. · Genetics in Medicine · 2020 · 32 citations · Full text

, , +12

Rows per page

1–5 of 6