Quantifying the contribution of recessive coding variation to developmental disorders
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Title
Quantifying the contribution of recessive coding variation to developmental disorders
Authors
Keywords
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Journal
SCIENCE
Volume 362, Issue 6419, Pages 1161-1164
Publisher
American Association for the Advancement of Science (AAAS)
Online
2018-11-09
DOI
10.1126/science.aar6731
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- (2016) Vagheesh Narasimhan et al. BIOINFORMATICS
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- (2016) Katharina Gapp et al. NEUROPSYCHOPHARMACOLOGY
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- (2016) Damian Szklarczyk et al. NUCLEIC ACIDS RESEARCH
- De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2015) Steven J. Schrodi et al. HUMAN GENETICS
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- (2015) Guilherme Lopes Yamamoto et al. JOURNAL OF MEDICAL GENETICS
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
- (2015) Nadia Akawi et al. NATURE GENETICS
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- (2015) Lisenka E. L. M. Vissers et al. NATURE REVIEWS GENETICS
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- (2015) Christina N Vallianatos et al. Epigenomics
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- Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay
- (2013) Moeenaldeen D. Al-Sayed et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study
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- DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
- (2013) Eugene Bragin et al. NUCLEIC ACIDS RESEARCH
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- RNA-Guided Human Genome Engineering via Cas9
- (2013) P. Mali et al. SCIENCE
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- (2013) Mareike Albert et al. PLoS Genetics
- Deep sequencing reveals 50 novel genes for recessive cognitive disorders
- (2011) Hossein Najmabadi et al. NATURE
- Genetics of Early Onset Cognitive Impairment
- (2010) Hans Hilger Ropers Annual Review of Genomics and Human Genetics
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- (2010) Alfredo Csibi et al. PLoS One
- Consanguinity and reproductive health among Arabs
- (2009) Ghazi O Tadmouri et al. Reproductive Health
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