Concepedia

Thomas C. Markello

TC

82

Publications

6K

Citations

41

H-Index

1990

Active since

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

Office of the Director

Baylor College of Medicine

Harvard University

Thomas C. Markello is an author at National Human Genome Research Institute specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

1990–2021

82

Publications

82

<i>NT5E</i> Mutations and Arterial Calcifications

Cynthia St. Hilaire, Shira G. Ziegler, Thomas C. Markello et al. · New England Journal of Medicine · 2011 · 444 citations · Full text

<i>GRIN2A</i> mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

Tyler Mark Pierson, Hongjie Yuan, Eric D. Marsh et al. · Annals of Clinical and Translational Neurology · 2014 · 292 citations · Full text

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

William A. Gahl, Thomas C. Markello, Camilo Toro et al. · Genetics in Medicine · 2012 · 287 citations · Full text

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Improved Renal Function in Children with Cystinosis Treated with Cysteamine

Thomas C. Markello, Isa Bernardini, William A. Gahl · New England Journal of Medicine · 1993 · 284 citations · Full text

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Tyler Mark Pierson, David R. Adams, Florian Bonn et al. · PLoS Genetics · 2011 · 226 citations · Full text

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