Genomic contributions to Mendelian disease-Reference-Cited by-同舟云学术

Genomic contributions to Mendelian disease

Published:2011-05 Issue:5 Volume:21 Page:643-644
ISSN:1088-9051
Container-title:Genome Research
language:en
Short-container-title:Genome Res.

Author:

Chakravarti Aravinda

Publisher

Cold Spring Harbor Laboratory

Subject

Genetics (clinical),Genetics

Reference5 articles.

1. A map of human genome variation from population-scale sequencing

2. Erlich Y , Edvardson S , Hodges E , Zenvirt S , Thekkat P , Shaag A , Dor T . 2011. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res (this issue). doi: 10.1101/gr.117143.110.

3. McKusick VA . 1998. Mendelian inheritance in man. A catalog of human genes and genetic disorders, 12th ed Johns Hopkins University Press, Baltimore. http://www.ncbi.nlm.nih.gov/omim .

4. Targeted capture and massively parallel sequencing of 12 human exomes

5. The Human Gene Mutation Database: 2008 update;Genome Med,2009

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