Publications by authors named "Matthew Herzog"

8Publications

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.

Neuropathology 2020 Jun 9;40(3):302-307. Epub 2020 Feb 9.

Department of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.

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http://dx.doi.org/10.1111/neup.12641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317439PMC
June 2020

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

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Student-Athletes' Views on APOE Genotyping for Increased Risk of Poor Recovery after a Traumatic Brain Injury.

J Genet Couns 2016 12 21;25(6):1267-1275. Epub 2016 May 21.

Cancer Risk and Prevention Program, MemorialCare Cancer Institute at MemorialCare Health System, Laguna Hills, CA, USA.

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http://dx.doi.org/10.1007/s10897-016-9965-6DOI Listing
December 2016