Dr. Zuchner is on Doximity
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Office
Miller School of Medicine at the University of Miami
1501 NW 10th Avenue, BRB 616
Miami, FL 33136
Education & Training
OtherClass of 1998
Publications & Presentations
PubMed
- 347 citationsThe Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A. Philippakis, Danielle R. Azzariti, Sergi Beltran, Anthony J. Brookes, Catherine A. Brownstein
Human Mutation. 2015-10-01 - 321 citationsBiallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq
Nature Genetics. 2019-03-29 - 493 citationsThe Human Phenotype Ontology in 2017Sebastian Köhler, Nicole Vasilevsky, Mark Engelstad, Erin D. Foster, Julie A. McMurry
Nucleic Acids Research. 2017-01-04
Press Mentions
Researchers Identify Potential Modifier Genes in Patients with Charcot-Marie-Tooth DiseaseJune 18th, 2019
An Unusual Mutation Type Explains the Nature of Late-Life Balance ProblemsApril 12th, 2019
Observational Trial Recruiting Participants to Identify New CMT-Related MutationsMarch 12th, 2019- Join now to see all
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