T. Hefferon

发表

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

B. Kerem, R. Rowntree, S. Gallati, 2004, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

PhenCode: connecting ENCODE data with mutations and phenotype

W. Miller, Daryl J. Thomas, J. Zieleński, 2007, Human mutation.

tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine

Zhiyong Lu, Chih-Hsuan Wei, Tim Hefferon, 2018, Bioinform..

The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms

Sree Rohit Raj Kolora, Rupesh K. Kesharwani, David C. Molik, 2022, F1000Research.

The incidence of duplicate genetic testing

D. Macaya, L. Boardman, T. Hefferon, 2008, Genetics in Medicine.

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

B. Olsen, M. Warman, T. Hefferon, 1993, Nature Genetics.

Acquired pseudoxanthoma elasticum presenting after liver transplantation.

S. Terry, N. Chassaing, T. Hefferon, 2011, Journal of the American Academy of Dermatology.

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

I. Kaitila, T. Hefferon, G. Bellus, 1995, American journal of human genetics.

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

Xavier Estivill, Manfred Stuhrmann, Milan Macek, 2004, American journal of human genetics.

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

G. Cutting, F. Broackes-Carter, A. Harris, 2002, American journal of human genetics.

An integrated map of genetic variation from 1,092 human genomes

Kenny Q. Ye, Mauricio O. Carneiro, Francisco M. De La Vega, 2012, Nature.

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

C. Merlo, G. Cutting, Molly B. Sheridan, 2010, Journal of Medical Genetics.

Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine

Lon Phan, Todd J. Treangen, Junzhou Wang, 2020, F1000Research.

dbVar and DGVa: public archives for genomic structural variation

Chao Chen, Deanna M. Church, Paul Flicek, 2012, Nucleic Acids Res..

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

G. Cutting, T. Hefferon, J. Groman, 2004, Proceedings of the National Academy of Sciences of the United States of America.

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

Mark J. P. Chaisson, Arun K. Subramaniyan, Justin N. Vaughn, 2021, F1000Research.

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates.

Eric T. Dawson, Daniel L. Cameron, Zev N. Kronenberg, 2021, F1000Research.

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

D. Meyers, S. Blanton, J. Murray, 1994, Human molecular genetics.

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

Alexandra J. Scott, L. Elnitski, Valer Gotea, 2012, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome -- Cancer Syndromes

L. Boardman, T. Hefferon, M. Roberts, 2009 .

Association between homeobox-containing gene MSX1 and the occurrence of limb deficiency.

T. Beaty, T. Hefferon, S. Hwang, 1998, American journal of medical genetics.

The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms [version 1; peer review: awaiting peer review]

Rupesh K. Kesharwani, David C. Molik, Muhammad Sohail Raza, 2022 .

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

D. Macaya, G. Cutting, T. Hefferon, 2009, American Journal of Medical Genetics. Part A.

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

C. Merlo, G. Cutting, T. Hefferon, 2010, Journal of Medical Genetics.

An integrated map of genetic variation from 1 , 092 human genomes Citation

Miriam K. Konkel, Yu. G. Ostapchuk, Peter A. Meric, 2012 .