Concepedia

Elizabeth Butler

EB

Statistics

Publications

11

Citations

794

H-Index

11

Active since

1990

Affiliations

Clínica Alemana(Current)

Cleveland Clinic

Universidad del Desarrollo

University Hospital Cologne

Broad Institute

Elizabeth Butler is an author at Clínica Alemana specializing in genetics, medicine, and genetic medicine.

Top concepts

Publications per year

1990–2023

11

Publications

11

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

Amanda Lindy, Mary Beth Stosser, Elizabeth Butler et al. · Epilepsia · 2018 · 295 citations · Full text

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

Mary Beth Stosser, Amanda Lindy, Elizabeth Butler et al. · Genetics in Medicine · 2017 · 165 citations · Full text

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

Javier A. López-Rivera, Costin Leu, Marie Macnee et al. · Brain · 2022 · 69 citations · Full text

, , +29

A novel variant in <i>GABRB2</i> associated with intellectual disability and epilepsy

Siddharth Srivastava, Julie S. Cohen, Jonathan Pevsner et al. · American Journal of Medical Genetics Part A · 2014 · 67 citations · Full text

, , +22

The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria

Ingo Helbig, Erin Rooney Riggs, Carrie‐Anne Barry et al. · Human Mutation · 2018 · 45 citations · Full text

, , +20

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