Shannon Rego

Shannon Rego

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Shannon Rego

Shannon Rego

Publications by authors named "Shannon Rego"

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15Publications

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Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.

Am J Med Genet A 2019 11 29;179(11):2190-2195. Epub 2019 Aug 29.

Institute for Human Genetics, University of California San Francisco, San Francisco, California.

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http://dx.doi.org/10.1002/ajmg.a.61344DOI Listing
November 2019

Informed Consent in the Genomics Era.

Cold Spring Harb Perspect Med 2019 Sep 30. Epub 2019 Sep 30.

Stanford Center for Biomedical Ethics, Stanford, California 94305, USA.

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http://dx.doi.org/10.1101/cshperspect.a036582DOI Listing
September 2019

Much ado about nothing: A qualitative study of the experiences of an average-risk population receiving results of exome sequencing.

J Genet Couns 2019 04 5;28(2):428-437. Epub 2019 Mar 5.

Department of Genetics, Stanford University School of Medicine, Stanford, California.

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http://dx.doi.org/10.1002/jgc4.1096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456364PMC
April 2019

High Throughput Sequencing and Assessing Disease Risk.

Cold Spring Harb Perspect Med 2019 01 2;9(1). Epub 2019 Jan 2.

Department of Genetics, Stanford University, Stanford, California 94305.

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http://dx.doi.org/10.1101/cshperspect.a026849DOI Listing
January 2019

A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation.

J Clin Endocrinol Metab 2017 07;102(7):2127-2130

Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305.

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http://dx.doi.org/10.1210/jc.2017-00341DOI Listing
July 2017

Newborn screening in the genomics era.

Authors:
Shannon Rego

J Law Biosci 2014 Sep 16;1(3):369-377. Epub 2014 Oct 16.

Stanford University, CA 94305, USA.

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http://dx.doi.org/10.1093/jlb/lsu027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033535PMC
September 2014