Exome sequencing in Brown-Vialetto-van Laere syndrome.

Abnormalities, Multiple/genetics/pathology; Adolescent; Base Sequence; Bulbar Palsy, Progressive/genetics/pathology; Child; Child, Preschool; Fatal Outcome; Female; Heterozygote; Humans; Male; Membrane Transport Proteins/genetics; Molecular Sequence Data; Mutation, Missense; Pedigree; Polymorphism, Single Nucleotide/genetics; Respiratory Insufficiency/genetics/pathology; Sequence Analysis, DNA; Syndrome

Disciplines :

Genetics & genetic processes

Author, co-author :

Johnson, Janel O

Gibbs, J Raphael

Van Maldergem, Lionel ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

Houlden, Henry

Singleton, Andrew B

Language :

English

Title :

Exome sequencing in Brown-Vialetto-van Laere syndrome.

Publication date :

2010

Journal title :

American Journal of Human Genetics

ISSN :

0002-9297

eISSN :

1537-6605

Publisher :

University of Chicago Press, Chicago, United States - Illinois

Volume :

Issue :

Pages :

567-9; author reply 569-70

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 24 January 2011

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Bibliography

S. Sathasivam Brown-Vialetto-Van Laere syndrome Orphanet J. Rare Dis. 3 2008 9
P. Green, M. Wiseman, Y.J. Crow, H. Houlden, S. Riphagen, J.P. Lin, F.L. Raymond, A.M. Childs, E. Sheridan, S. Edwards, and D.J. Josifova Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54 Am. J. Hum. Genet. 86 2010 485 489
H. Li, and R. Durbin Fast and accurate short read alignment with Burrows-Wheeler transform Bioinformatics 25 2009 1754 1760
H. Li, B. Handsaker, A. Wysoker, T. Fennell, J. Ruan, N. Homer, G. Marth, G. Abecasis, R. Durbin 1000 Genome Project Data Processing Subgroup The Sequence Alignment/Map format and SAMtools Bioinformatics 25 2009 2078 2079
A.H. McKenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly, and M. Depristo The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data Genome Res. 20 2010 1297 1303