Publications by authors named "Karen L David"

12Publications

Response to Knoppers et al.

Genet Med 2019 10 11;21(10):2403. Epub 2019 Apr 11.

Division of Translational Medicine and Human Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41436-019-0496-zDOI Listing
October 2019

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2019 04 22;21(4):769-771. Epub 2018 Dec 22.

Division of Translational Medicine and Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41436-018-0391-zDOI Listing
April 2019

Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2018 07 22;20(7):692-694. Epub 2018 Mar 22.

Division of Genetics and Genomics, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2018.36DOI Listing
July 2018

Cover Image, Volume 173A, Number 12, December 2017.

Am J Med Genet A 2017 Dec;173(12)

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38548DOI Listing
December 2017

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Am J Med Genet A 2017 Dec 20;173(12):3231-3237. Epub 2017 Oct 20.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685896PMC
December 2017

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Whole exome sequence analysis of Peters anomaly.

Hum Genet 2014 Dec 3;133(12):1497-511. Epub 2014 Sep 3.

Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.

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http://dx.doi.org/10.1007/s00439-014-1481-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395516PMC
December 2014

Technical report: Ethical and policy issues in genetic testing and screening of children.

Genet Med 2013 Mar 21;15(3):234-45. Epub 2013 Feb 21.

Department of Pediatrics, University of Chicago, Chicago, Illinois, USA.

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http://dx.doi.org/10.1038/gim.2012.176DOI Listing
March 2013

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.

Proc Natl Acad Sci U S A 2005 Mar 28;102(11):4130-3. Epub 2005 Feb 28.

Human Cancer Genetics Program, Comprehensive Cancer Center, Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1073/pnas.0500517102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC554821PMC
March 2005