Jennefer Kohler

Jennefer Kohler

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Jennefer Kohler

Jennefer Kohler

Publications by authors named "Jennefer Kohler"

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta Neuropathol 2019 Dec 9. Epub 2019 Dec 9.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02109-6DOI Listing
December 2019

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

Genomics in medicine: a novel elective rotation for internal medicine residents.

Postgrad Med J 2019 Oct 22;95(1128):569-572. Epub 2019 Aug 22.

Department of Medicine, Stanford School of Medicine, Stanford, California, USA.

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http://dx.doi.org/10.1136/postgradmedj-2018-136355DOI Listing
October 2019

Personal utility in genomic testing: a systematic literature review.

Eur J Hum Genet 2017 06 15;25(6):662-668. Epub 2017 Mar 15.

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/ejhg.2017.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477355PMC
June 2017