Publications by authors named "Tyler M Pierson"

11Publications

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.

Ann Clin Transl Neurol 2018 Sep 14;5(9):1128-1133. Epub 2018 Aug 14.

Department of Neurology Cedars-Sinai Medical Center Los Angeles California.

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http://dx.doi.org/10.1002/acn3.598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144452PMC
September 2018

VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.

Hum Mutat 2012 Apr 24;33(4):593-8. Epub 2012 Feb 24.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

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http://dx.doi.org/10.1002/humu.22034DOI Listing
April 2012

Increased frequency of congenital heart defects in Menkes disease.

Clin Dysmorphol 2012 Apr;21(2):59-63

Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland 20892-1853, USA.

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http://dx.doi.org/10.1097/MCD.0b013e32834ea52bDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385410PMC
April 2012

Inhibin A is an endocrine stimulator of bone mass and strength.

Endocrinology 2007 Apr 28;148(4):1654-65. Epub 2006 Dec 28.

Department of Physiology and Biophysics, Center for Orthopaedic Research, University of Arkansas for Medical Sciences, 4301 West Markham, Slot 505, Little Rock, Arkansas 72205, USA.

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http://dx.doi.org/10.1210/en.2006-0848DOI Listing
April 2007