Publications by authors named "Robert Kleyner"

7Publications

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

KBG syndrome involving a single-nucleotide duplication in .

Cold Spring Harb Mol Case Stud 2016 11;2(6):a001131

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA;; Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA.

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http://dx.doi.org/10.1101/mcs.a001131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111005PMC
November 2016

mutation in a child presenting with seizures and developmental delays.

Cold Spring Harb Mol Case Stud 2016 11;2(6):a001073

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA;; Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA.

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http://dx.doi.org/10.1101/mcs.a001073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111007PMC
November 2016