Concepedia

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi Gildersleeve, Mariana Aracena, Arthur S. Aylsworth, Pierre Bitoun, John C. Carey,

The American Journal of Human Genetics · 2014 · 218 citations · 24 references

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24

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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

Nature · 2012 · 8.2K citations · Full text

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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Brian J. O’Roak, Laura Vives, Wenqing Fu et al. · Science · 2012 · 1.3K citations · Full text

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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle et al. · Nature Genetics · 2013 · 694 citations · Full text

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Copy number variation detection and genotyping from exome sequence data

Niklas Krumm, Peter H. Sudmant, Arthur Ko et al. · Genome Research · 2012 · 676 citations · Full text

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