Thomas C. Markello

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

Cynthia St. Hilaire, Shira G. Ziegler, Thomas C. Markello et al. · New England Journal of Medicine · 2011 · 450 citations · Full text

Medicine, Genetics, Molecular Genetics +9

<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 · 296 citations · Full text

Life Sciences, Neuroscience, Pharmacology +17

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 · 293 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Improved Renal Function in Children with Cystinosis Treated with Cysteamine

Thomas C. Markello, Isa Bernardini, William A. Gahl · New England Journal of Medicine · 1993 · 286 citations · Full text

Medicine, Nephrology, Pediatrics +14

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 · 230 citations · Full text

Life Sciences, Genetics, Neurology +17