Publications by authors named "Stephanie E Vallee"

6Publications

The Impact of Direct-to-Consumer Genetic Testing on Patient and Provider.

Clin Lab Med 2020 03 7;40(1):61-67. Epub 2020 Jan 7.

Departments of Pediatrics and Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03576, USA.

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http://dx.doi.org/10.1016/j.cll.2019.11.003DOI Listing
March 2020

Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome.

J Hum Genet 2018 Dec 19;63(12):1231-1239. Epub 2018 Sep 19.

Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.

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http://dx.doi.org/10.1038/s10038-018-0506-zDOI Listing
December 2018

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

Am J Hum Genet 2016 05 28;98(5):909-918. Epub 2016 Apr 28.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1016/j.ajhg.2016.03.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863664PMC
May 2016