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

Por Scott, Alexandra, Petrykowska, Hanna M., Hefferon, Timothy, Gotea, Valer, Elnitski, Laura
Publicado em 2012

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

Por Hefferon, Timothy W., Groman, Joshua D., Yurk, Catherine E., Cutting, Garry R.
Publicado em 2004

Atypical 5′ Splice Sites Cause CFTR Exon 9 To Be Vulnerable to Skipping

Por Hefferon, Timothy W., Broackes-Carter, Fiona C., Harris, Ann, Cutting, Garry R.
Publicado em 2002

Acquired Pseudoxanthoma Elasticum Presenting After Liver Transplantation

Por Bercovitch, Lionel, Martin, Ludovic, Chassaing, Nicolas, Hefferon, Timothy W., Bessis, Didier, Vanakker, Olivier, Terry, Sharon F
Publicado em 2011

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

Por Sheridan, Molly B, Hefferon, Timothy W, Wang, Nulang, Merlo, Christian, Milla, Carlos, Borowitz, Drucy, Green, Eric D, Mogayzel, Peter J, Cutting, Garry R
Publicado em 2010

dbVar and DGVa: public archives for genomic structural variation

Por Lappalainen, Ilkka, Lopez, John, Skipper, Lisa, Hefferon, Timothy, Spalding, J. Dylan, Garner, John, Chen, Chao, Maguire, Michael, Corbett, Matt, Zhou, George, Paschall, Justin, Ananiev, Victor, Flicek, Paul, Church, Deanna M.
Publicado em 2013

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Por Groman, Joshua D., Hefferon, Timothy W., Casals, Teresa, Bassas, Lluís, Estivill, Xavier, Des Georges, Marie, Guittard, Caroline, Koudova, Monika, Fallin, M. Daniele, Nemeth, Krisztina, Fekete, Gyorgy, Kadasi, Ludovit, Friedman, Ken, Schwarz, Martin, Bombieri, Cristina, Pignatti, Pier Franco, Kanavakis, Emmanuel, Tzetis, Maria, Schwartz, Marianne, Novelli, Giuseppe, D’Apice, Maria Rosaria, Sobczynska-Tomaszewska, Agnieszka, Bal, Jerzy, Stuhrmann, Manfred, Macek, Jr., Milan, Claustres, Mireille, Cutting, Garry R.
Publicado em 2004