Frederick G Otieno

Frederick G Otieno

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Frederick G Otieno

Frederick G Otieno

Publications by authors named "Frederick G Otieno"

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Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.

Genome Med 2013 26;5(7):67. Epub 2013 Jul 26.

Center for Applied Genomics, Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA ; Department of Pediatrics, University of Pennsylvania School of Medicine, 3451 Walnut St, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1186/gm471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3971341PMC
May 2014

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.04.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675260PMC
June 2013

Whole-genome sequencing in an autism multiplex family.

Mol Autism 2013 Apr 18;4(1). Epub 2013 Apr 18.

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1186/2040-2392-4-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3642023PMC
April 2013