Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

Tejasvi S. Niranjan; Cindy Skinner; Melanie May; Tychele Turner; Rebecca Rose; Roger Stevenson; Charles E. Schwartz; Tao Wang

doi:10.1371/journal.pone.0116454

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Peer-reviewed

Research Article

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

Tejasvi S. Niranjan,

Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States of America, Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States of America
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Cindy Skinner,

Affiliation Greenwood Genetic Center, Greenwood, South Carolina. 29646, United States of America
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Melanie May,

Affiliation Greenwood Genetic Center, Greenwood, South Carolina. 29646, United States of America
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Tychele Turner,

Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States of America, Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States of America, Department of Genomic Sciences, University of Washington, Seattle, Washington 98195, United States of America
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Rebecca Rose,

Affiliation McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States of America
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Roger Stevenson,

Affiliation Greenwood Genetic Center, Greenwood, South Carolina. 29646, United States of America
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Charles E. Schwartz,

Affiliation Greenwood Genetic Center, Greenwood, South Carolina. 29646, United States of America
⨯
Tao Wang

* E-mail: twang9@jhmi.edu

Affiliations McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States of America, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, United States of America
⨯

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

Tejasvi S. Niranjan,
Cindy Skinner,
Melanie May,
Tychele Turner,
Rebecca Rose,
Roger Stevenson,
Charles E. Schwartz,
Tao Wang

Published: February 13, 2015
https://doi.org/10.1371/journal.pone.0116454

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Genomics
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X chromosomes
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Mutation databases
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Variant genotypes
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Single nucleotide polymorphisms
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X-linked traits
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Nonsense mutation
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Intellectual disability
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