Concepedia

Ruth A. Heim

RA

Statistics

Publications

13

Citations

738

H-Index

12

Active since

1988

Affiliations

University of North Carolina at Chapel Hill(Current)

Georgetown University

Georgetown University Medical Center

Children's Hospital of Los Angeles

Johnson University

Ruth A. Heim is an author at University of North Carolina at Chapel Hill specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

1988–2018

13

Publications

13

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

Ruth A. Heim, Lauren Kam-Morgan, Cameron G. Binnie et al. · Human Molecular Genetics · 1995 · 186 citations

, , +16

Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

Ruth A. Heim, Elaine A. Sugarman, Bernice A. Allitto · Genetics in Medicine · 2001 · 101 citations

, , +16

Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease

Kenneth J. Friedman, Ruth A. Heim, Michael R. Knowles et al. · Human Mutation · 1997 · 91 citations

, , +14

The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis

Elizabeth M. Rohlfs, Zhaoqing Zhou, Elaine A. Sugarman et al. · Genetics in Medicine · 2002 · 81 citations · Full text

, , +13

Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

Elizabeth M. Rohlfs, Zhaoqing Zhou, Ruth A. Heim et al. · Clinical Chemistry · 2011 · 78 citations · Full text

, , +17

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