Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene-Reference-Cited by-同舟云学术

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Published:2013-08-25 Issue:10 Volume:45 Page:1160-1167
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Sosnay Patrick R,Siklosi Karen R,Van Goor Fredrick,Kaniecki Kyle,Yu Haihui,Sharma Neeraj,Ramalho Anabela S,Amaral Margarida D,Dorfman Ruslan,Zielenski Julian,Masica David L,Karchin Rachel,Millen Linda,Thomas Philip J,Patrinos George P,Corey Mary,Lewis Michelle H,Rommens Johanna M,Castellani Carlo,Penland Christopher M,Cutting Garry R

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2745.pdf

Reference77 articles.

1. Chenevix-Trench, G. et al. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res. 66, 2019–2027 (2006).

2. Easton, D.F. et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer–predisposition genes. Am. J. Hum. Genet. 81, 873–883 (2007).

3. Plon, S.E. et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum. Mutat. 29, 1282–1291 (2008).

4. Richards, C.S. et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet. Med. 10, 294–300 (2008).

5. Bamshad, M.J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12, 745–755 (2011).

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