Concepedia

Joshua D. Groman

JD

9

Publications

956

Citations

9

H-Index

1999

Active since

Affiliations

Johns Hopkins University(Current)

Johns Hopkins Medicine

Cystic Fibrosis Foundation

University of North Carolina at Chapel Hill

Vanderbilt University

Joshua D. Groman is an author at Johns Hopkins University specializing in medicine, genetics, and pathology.

Top concepts

GeneticsMedicineBiologyPathologyEntomologyNatural SciencesEvolutionary BiologyBotanyHealthUrology

Publications per year

1999–2005

9

Publications

9

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Joshua D. Groman, Timothy Hefferon, Teresa Casals et al. · The American Journal of Human Genetics · 2004 · 248 citations · Full text

Molecular Diagnostic Techniques, Molecular Physiology, Disease Mechanism +10

Variant Cystic Fibrosis Phenotypes in the Absence of<i>CFTR</i>Mutations

Joshua D. Groman, Michelle E. Meyer, Robert W. Wilmott et al. · New England Journal of Medicine · 2002 · 176 citations · Full text

A variable dinucleotide repeat in the <i>CFTR</i> gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing

Timothy Hefferon, Joshua D. Groman, Catherine E. Yurk et al. · Proceedings of the National Academy of Sciences · 2004 · 161 citations · Full text

Growth Hormone Deficiency in Pseudohypoparathyroidism Type 1a: Another Manifestation of Multihormone Resistance

Emily L. Germain‐Lee, Joshua D. Groman, Janet L. Crane et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 157 citations

Php Type 1A, Human Growth, Genetics +18

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome

Molly B. Sheridan, Peying Fong, Joshua D. Groman et al. · Human Molecular Genetics · 2005 · 85 citations · Full text

Rows per page

1–5 of 9