Publications by authors named "Samantha Penney"

12Publications

Secondary findings and carrier test frequencies in a large multiethnic sample.

Genome Med 2015 13;7(1):54. Epub 2015 Jun 13.

The Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030 USA ; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030 USA.

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http://dx.doi.org/10.1186/s13073-015-0171-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507324PMC
July 2015

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Cell 2014 Sep;159(1):200-214

Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA; Program in Structural and Computational Biology and Molecular Biophysics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2014.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298142PMC
September 2014

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

Eur J Med Genet 2014 Jul 24;57(7):339-344. Epub 2014 Apr 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ejmg.2014.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065856PMC
July 2014

Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.

J Pediatr Gastroenterol Nutr 2014 Jul;59(1):17-21

*Department of Molecular and Human Genetics †Department of Pediatrics ‡Human Genome Sequencing Center §Section of Pediatric Pathology, Department of Pathology, Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1097/MPG.0000000000000363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203304PMC
July 2014