Joshua D. Groman

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 · 251 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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

Life Sciences, Genetics, Molecular Genetics +16

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

Life Sciences, Genetics, Molecular Biology +14

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 · 159 citations

Medicine, Endocrinology, Genetics +16

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

Medicine, Molecular Genetics, Nephrology +17