Publications by authors named "Chloe M Reuter"

8Publications

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

Am J Hum Genet 2020 04 19;106(4):570-583. Epub 2020 Mar 19.

Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Program in Development, Disease Models, and Therapeutics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118694PMC
April 2020

Genome Sequencing in Hypertrophic Cardiomyopathy.

J Am Coll Cardiol 2018 07;72(4):430-433

Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California. Electronic address: https://twitter.com/MWheelerMD.

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http://dx.doi.org/10.1016/j.jacc.2018.05.029DOI Listing
July 2018

Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain?

Genet Med 2019 03 12;21(3):539-541. Epub 2018 Jul 12.

Sibley Heart Center Cardiology, Children's Healthcare of Atlanta, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1038/s41436-018-0097-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752274PMC
March 2019

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.

J Pediatr 2018 05 11;196:291-297.e2. Epub 2018 Jan 11.

Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.12.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924635PMC
May 2018