Timothy W. Hefferon, Ph.D.
Affiliations: | 2004 | Johns Hopkins University, Baltimore, MD |
Area:
Genetics, Molecular BiologyGoogle:
"Timothy Hefferon"Parents
Sign in to add mentor| Garry R. Cutting | grad student | 2004 | Johns Hopkins | |
| (New insights into the role of cis-acting sequences in the splicing of a constitutive exon.) | ||||
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Publications
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| Wei CH, Phan L, Hefferon T, et al. (2024) 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 |
| Allot A, Wei CH, Phan L, et al. (2023) Tracking genetic variants in the biomedical literature using LitVar 2.0. Nature Genetics. 55: 901-903 |
| Scott A, Petrykowska HM, Hefferon T, et al. (2012) 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 |
| Sheridan MB, Hefferon TW, Wang N, et al. (2011) 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 |
| Macaya D, Katsanis SH, Hefferon TW, et al. (2009) 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 |
| Amaral MD, Clarke LA, Ramalho AS, et al. (2004) 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 |
| Hefferon TW, Groman JD, Yurk CE, et al. (2004) 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 |
| Groman JD, Hefferon TW, Casals T, et al. (2004) 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 |
| Hefferon TW, Broackes-Carter FC, Harris A, et al. (2002) Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping. American Journal of Human Genetics. 71: 294-303 |