Publications by authors named "Timothy W Hefferon"

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Acquired pseudoxanthoma elasticum presenting after liver transplantation.
Lionel Bercovitch, Ludovic Martin, Nicolas Chassaing, Timothy W Hefferon, Didier Bessis

J Am Acad Dermatol· May 2011

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CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.
Molly B Sheridan, Timothy W Hefferon, Nulang Wang, Christian Merlo, Carlos Milla

J Med Genet· April 2011

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Medical errors related to inappropriate genetic testing in liver transplant patients.
Douglas L Riegert-Johnson, Daniela Macaya, Timothy W Hefferon, Lisa A Boardman

Genet Test· May 2008

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The incidence of duplicate genetic testing.
Douglas L Riegert-Johnson, Daniela Macaya, Timothy W Hefferon, Lisa A Boardman

Genet Med· February 2008

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A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.
Timothy W Hefferon, Joshua D Groman, Catherine E Yurk, Garry R Cutting

Proc Natl Acad Sci U S A· March 2004

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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 W Hefferon, Teresa Casals, Lluís Bassas, Xavier Estivill

Am J Hum Genet· January 2004

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Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.
Timothy W Hefferon, Fiona C Broackes-Carter, Ann Harris, Garry R Cutting

Am J Hum Genet· August 2002

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