Publications by authors named "Ryan Golhar"

12Publications

Na channel variants in patients with painful and nonpainful peripheral neuropathy.

Neurol Genet 2017 Dec 15;3(6):e207. Epub 2017 Dec 15.

Department of Translational Biomarkers and Computational Genomics (S.W., S.P., R.G., S.K., J.T.), Bristol-Myers Squibb, Hopewell Site, Pennington, NJ; Department of Genetically Defined Diseases Discovery Biology (L.J.B.), Bristol-Myers Squibb, Wallingford, CT; Department of Innovative Clinical Development (I.Q., L.J.), Bristol-Myers Squibb, Lawrenceville, Princeton, NJ; Department of Neurology (S.A.-D.), Northwestern Medical Faculty Foundation, Chicago, IL; Department of Neurology (R.F.), Beth Israel Medical Center, Harvard School of Medicine, Boston, MA; Department of Neurology (D.M.S.), Icahn School of Medicine at Mount Sinai Medical Center, New York, NY; Department of Neurology (A.G.S.), University of Utah School of Medicine, Salt Lake City, UT; Department of Neurology (A.H.), Johns Hopkins University, Baltimore, MD. S.P. is currently affiliated with Biocon Bristol-Myers Squibb Research Center, Bangalore, India.

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http://dx.doi.org/10.1212/NXG.0000000000000207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732007PMC
December 2017

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.

Proc Natl Acad Sci U S A 2014 Sep 5;111(38):E4033-42. Epub 2014 Sep 5.

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia and the Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104;

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http://dx.doi.org/10.1073/pnas.1414028111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4183335PMC
September 2014

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

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

Low p53 binding protein 1 (53BP1) expression is associated with increased local recurrence in breast cancer patients treated with breast-conserving surgery and radiotherapy.

Int J Radiat Oncol Biol Phys 2012 Aug 18;83(5):e677-83. Epub 2012 Apr 18.

Department of Radiation Oncology, The Cancer Institute of New Jersey and University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Brunswick, NJ, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S036030161200199
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http://dx.doi.org/10.1016/j.ijrobp.2012.01.089DOI Listing
August 2012