Hefferon TW - Search Results

1

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

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, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. Groman JD, et al. Among authors: hefferon tw. Am J Hum Genet. 2004 Jan;74(1):176-9. doi: 10.1086/381001. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685937 Free PMC article.

2

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Bellus GA, et al. Among authors: hefferon tw. Am J Hum Genet. 1995 Feb;56(2):368-73. Am J Hum Genet. 1995. PMID: 7847369 Free PMC article.

3

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

Hefferon TW, Broackes-Carter FC, Harris A, Cutting GR. Hefferon TW, et al. Am J Hum Genet. 2002 Aug;71(2):294-303. doi: 10.1086/341664. Epub 2002 Jun 13. Am J Hum Genet. 2002. PMID: 12068373 Free PMC article.

4

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

Hefferon TW, Groman JD, Yurk CE, Cutting GR. Hefferon TW, et al. Proc Natl Acad Sci U S A. 2004 Mar 9;101(10):3504-9. doi: 10.1073/pnas.0400182101. Epub 2004 Mar 1. Proc Natl Acad Sci U S A. 2004. PMID: 14993601 Free PMC article.

5

Quantitative methods for the analysis of CFTR transcripts/splicing variants.

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, Cutting GR, Goina E, Pagani F. Amaral MD, et al. J Cyst Fibros. 2004 Aug;3 Suppl 2:17-23. doi: 10.1016/j.jcf.2004.05.047. J Cyst Fibros. 2004. PMID: 15463919 Free article. Review.

6

A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon.

Macaya D, Katsanis SH, Hefferon TW, Audlin S, Mendelsohn NJ, Roggenbuck J, Cutting GR. Macaya D, et al. Among authors: hefferon tw. Am J Med Genet A. 2009 Aug;149A(8):1624-7. doi: 10.1002/ajmg.a.32834. Am J Med Genet A. 2009. PMID: 19572402

7

CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.

Sheridan MB, Hefferon TW, Wang N, Merlo C, Milla C, Borowitz D, Green ED, Mogayzel PJ Jr, Cutting GR. Sheridan MB, et al. Among authors: hefferon tw. J Med Genet. 2011 Apr;48(4):235-41. doi: 10.1136/jmg.2010.083287. Epub 2010 Nov 20. J Med Genet. 2011. PMID: 21097845 Free PMC article.

8

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.

Francomano CA, Ortiz de Luna RI, Hefferon TW, Bellus GA, Turner CE, Taylor E, Meyers DA, Blanton SH, Murray JC, McIntosh I, et al. Francomano CA, et al. Among authors: hefferon tw. Hum Mol Genet. 1994 May;3(5):787-92. doi: 10.1093/hmg/3.5.787. Hum Mol Genet. 1994. PMID: 8081365

9

PhenCode: connecting ENCODE data with mutations and phenotype.

Giardine B, Riemer C, Hefferon T, Thomas D, Hsu F, Zielenski J, Sang Y, Elnitski L, Cutting G, Trumbower H, Kern A, Kuhn R, Patrinos GP, Hughes J, Higgs D, Chui D, Scriver C, Phommarinh M, Patnaik SK, Blumenfeld O, Gottlieb B, Vihinen M, Väliaho J, Kent J, Miller W, Hardison RC. Giardine B, et al. Hum Mutat. 2007 Jun;28(6):554-62. doi: 10.1002/humu.20484. Hum Mutat. 2007. PMID: 17326095

10

Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.

Scott A, Petrykowska HM, Hefferon T, Gotea V, Elnitski L. Scott A, et al. J Cyst Fibros. 2012 Dec;11(6):511-7. doi: 10.1016/j.jcf.2012.04.009. Epub 2012 May 14. J Cyst Fibros. 2012. PMID: 22591852 Free PMC article.

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