StephanZuchnerMD

Professor and Chair, Department of Human Genetics

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Office
Miller School of Medicine at the University of Miami
1501 NW 10th Avenue, BRB 616
Miami, FL 33136

PubMed

345 citations
The Matchmaker Exchange: a platform for rare disease gene discovery
Anthony A. Philippakis, Danielle R. Azzariti, Sergi Beltran, Anthony J. Brookes, Catherine A. Brownstein
Human Mutation. 2015-10-01
42 citations
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
Katrien Smets, Anna Duarri, Tine Deconinck, Berten Ceulemans, Bart P.C. van de Warrenburg
BMC Medical Genetics. 2015-07-21
318 citations
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq
Nature Genetics. 2019-03-29

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
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