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Timothy W. Hefferon, Ph.D. - Publications

Affiliations: 
2004 Johns Hopkins University, Baltimore, MD 
Area:
Genetics, Molecular Biology
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9 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
2024 Wei CH, Phan L, Hefferon T, Landrum M, Rehm HL, Lu Z. Correspondence on "Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants" by Wermers et al. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101208. PMID 38973600 DOI: 10.1016/j.gim.2024.101208  0.606
2023 Allot A, Wei CH, Phan L, Hefferon T, Landrum M, Rehm HL, Lu Z. Tracking genetic variants in the biomedical literature using LitVar 2.0. Nature Genetics. 55: 901-903. PMID 37268776 DOI: 10.1038/s41588-023-01414-x  0.617
2012 Scott A, Petrykowska HM, Hefferon T, Gotea V, Elnitski L. Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. 11: 511-7. PMID 22591852 DOI: 10.1016/J.Jcf.2012.04.009  0.478
2011 Sheridan MB, Hefferon TW, Wang N, Merlo C, Milla C, Borowitz D, Green ED, Mogayzel PJ, Cutting GR. CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR. Journal of Medical Genetics. 48: 235-41. PMID 21097845 DOI: 10.1136/Jmg.2010.083287  0.68
2009 Macaya D, Katsanis SH, Hefferon TW, Audlin S, Mendelsohn NJ, Roggenbuck J, Cutting GR. A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. American Journal of Medical Genetics. Part A. 149: 1624-7. PMID 19572402 DOI: 10.1002/Ajmg.A.32834  0.527
2004 Amaral MD, Clarke LA, Ramalho AS, Beck S, Broackes-Carter F, Rowntree R, Mouchel N, Williams SH, Harris A, Tzetis M, Steiner B, Sanz J, Gallati S, Nissim-Rafinifa M, Kerem B, ... Hefferon T, et al. Quantitative methods for the analysis of CFTR transcripts/splicing variants. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. 3: 17-23. PMID 15463919 DOI: 10.1016/J.Jcf.2004.05.047  0.567
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  0.63
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  0.642
2002 Hefferon TW, Broackes-Carter FC, Harris A, Cutting GR. Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping. American Journal of Human Genetics. 71: 294-303. PMID 12068373 DOI: 10.1086/341664  0.573
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