Publications by authors named "Kelly D Farwell"

9Publications

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PLoS One 2017 2;12(2):e0170843. Epub 2017 Feb 2.

Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California Irvine, Irvine, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0170843PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289469PMC
August 2017

ELP2 is a novel gene implicated in neurodevelopmental disabilities.

Am J Med Genet A 2015 Jun 2;167(6):1391-5. Epub 2015 Apr 2.

Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.36935DOI Listing
June 2015

Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency.

Mutat Res 2004 Oct;554(1-2):223-40

Department of Molecular Genetics and Molecular Diagnosis, Beckman Research Institute, City of Hope National Medical Center, Duarte, CA, USA.

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http://dx.doi.org/10.1016/j.mrfmmm.2004.05.005DOI Listing
October 2004

Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificity.

Mutat Res 2003 Jan;534(1-2):173-86

Department of Molecular Genetics, Beckman Research Institute/City of Hope, Duarte, CA 91010-0269, USA.

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http://dx.doi.org/10.1016/s1383-5718(02)00277-2DOI Listing
January 2003