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Joshua D. Groman, Ph.D. - Publications

Affiliations: 
2004 Johns Hopkins University, Baltimore, MD 
Area:
Genetics, Molecular Biology
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8 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2007 Hsu SC, Groman JD, Merlo CA, Naughton K, Zeitlin PL, Germain-Lee EL, Boyle MP, Cutting GR. Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency. The Journal of Clinical Endocrinology and Metabolism. 92: 3941-8. PMID 17652219 DOI: 10.1210/Jc.2007-0271  0.604
2005 Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR. Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Human Molecular Genetics. 14: 3493-8. PMID 16207733 DOI: 10.1093/Hmg/Ddi374  0.674
2005 Groman JD, Karczeski B, Sheridan M, Robinson TE, Fallin MD, Cutting GR. Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis. The Journal of Pediatrics. 146: 675-80. PMID 15870673 DOI: 10.1016/J.Jpeds.2004.12.020  0.67
2004 Groman JD, Bolger W, Brass-Ernst L, Macek M, Zeitlin P, Cutting G. Recurrent and destructive nasal polyposis in 2 siblings: a possible case of Woakes' syndrome. Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery. 131: 1009-11. PMID 15577807 DOI: 10.1016/J.Otohns.2004.02.031  0.493
2004 Hefferon TW, Groman JD, Yurk CE, Cutting GR. A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing. Proceedings of the National Academy of Sciences of the United States of America. 101: 3504-9. PMID 14993601 DOI: 10.1073/Pnas.0400182101  0.65
2004 Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, et al. Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign American Journal of Human Genetics. 74: 176-179. PMID 14685937 DOI: 10.1086/381001  0.669
2003 Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. The Journal of Clinical Endocrinology and Metabolism. 88: 4059-69. PMID 12970262 DOI: 10.1210/Jc.2003-030028  0.316
2002 Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. The New England Journal of Medicine. 347: 401-7. PMID 12167682 DOI: 10.1056/Nejmoa011899  0.703
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