Jessica X Chong

Jessica X Chong

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Jessica X Chong

Jessica X Chong

Publications by authors named "Jessica X Chong"

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41Publications

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Mendelian Gene Discovery: Fast and Furious with No End in Sight.

Am J Hum Genet 2019 Sep;105(3):448-455

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute for Precision Medicine, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/j.ajhg.2019.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731362PMC
September 2019

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.

Ann N Y Acad Sci 2018 02 28;1413(1):119-125. Epub 2018 Jan 28.

Department of Medicine and Rehabilitation, University of California Davis, Sacramento, California.

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http://dx.doi.org/10.1111/nyas.13585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252105PMC
February 2018

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Am J Med Genet A 2017 Nov 8;173(11):3098-3103. Epub 2017 Sep 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659324PMC
November 2017

Matchmaker Exchange.

Curr Protoc Hum Genet 2017 10 18;95:9.31.1-9.31.15. Epub 2017 Oct 18.

The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/cphg.50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016856PMC
October 2017

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.

Thyroid 2017 01 7;27(1):129-131. Epub 2016 Dec 7.

1 Department of Medicine, The University of Chicago , Chicago, Illinois.

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http://dx.doi.org/10.1089/thy.2016.0469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206697PMC
January 2017

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

PLoS Genet 2015 Jun 5;11(6):e1005273. Epub 2015 Jun 5.

Department of Pediatrics, University of Washington, Seattle, Washington, United States of America; Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457883PMC
June 2015

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Am J Hum Genet 2015 May;96(5):841-9

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570285PMC
May 2015

Disclosure of genetic research results to members of a founder population.

J Genet Couns 2014 Dec 29;23(6):984-91. Epub 2014 Apr 29.

Department of Human Genetics, University of Chicago, 5841 S. Maryland Ave. M/C 0077, Chicago, IL, 60637, USA.

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http://dx.doi.org/10.1007/s10897-014-9721-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4337808PMC
December 2014

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

Am J Hum Genet 2014 Aug 31;95(2):183-93. Epub 2014 Jul 31.

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140031
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http://dx.doi.org/10.1016/j.ajhg.2014.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129409PMC
August 2014

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

Am J Hum Genet 2014 Feb;94(2):161-75

Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Medical Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928651PMC
February 2014

Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.

Circ Cardiovasc Genet 2013 Aug 17;6(4):327-36. Epub 2013 Jul 17.

Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, Calgary, AB, Canada.

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http://dx.doi.org/10.1161/CIRCGENETICS.113.000097DOI Listing
August 2013

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Am J Hum Genet 2012 Oct 13;91(4):608-20. Epub 2012 Sep 13.

Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484657PMC
October 2012

Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals.

Genet Epidemiol 2012 May 28;36(4):312-9. Epub 2012 Mar 28.

Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1002/gepi.21623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3794468PMC
May 2012

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

Am J Med Genet A 2012 May 11;158A(5):1229-32. Epub 2012 Apr 11.

Department of Medical Genetics, Alberta Children's Hospital and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4247856PMC
May 2012

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.

Eur J Hum Genet 2011 Oct 25;19(10):1045-51. Epub 2011 May 25.

Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1038/ejhg.2011.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190247PMC
October 2011