Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

To identify genetic causes of intellectual disability (ID), we screened a cohort of 986 individuals with moderate to severe ID for variants in 565 known or candidate ID‐associated genes using targeted next‐generation sequencing. Likely pathogenic rare variants were found in ∼11% of the cases (113 va...

詳細記述

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書誌詳細
出版年:Hum Mutat
主要な著者: Grozeva, Detelina, Carss, Keren, Spasic‐Boskovic, Olivera, Tejada, Maria‐Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2015
主題:
Research Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4833192/
https://ncbi.nlm.nih.gov/pubmed/26350204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22901
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