Concepedia

Dana Doheny

DD

Statistics

Publications

21

Citations

1.5K

H-Index

17

Active since

1999

Affiliations

Icahn School of Medicine at Mount Sinai(Current)

Albert Einstein College of Medicine

Massachusetts General Hospital

Harvard University

University of Lübeck

Dana Doheny is an author at Icahn School of Medicine at Mount Sinai specializing in genetics, genetic disorders, and life sciences.

ORCID

Publications per year

1999–2018

21

Publications

21

Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism

Joanne Leung, Christine Klein, Jennifer Friedman et al. · Neurogenetics · 2001 · 166 citations

, , +13

Acute Intermittent Porphyria: Predicted Pathogenicity of<i>HMBS</i>Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

Brenden Chen, Constanza Solis‐Villa, Jörg Hakenberg et al. · Human Mutation · 2016 · 166 citations · Full text

, , +17

A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci

Eimear E. Kenny, Itsik Pe’er, Amir Karban et al. · PLoS Genetics · 2012 · 160 citations · Full text

, , +17

Fabry Disease: prevalence of affected males and heterozygotes with pathogenic <i>GLA</i> mutations identified by screening renal, cardiac and stroke clinics, 1995–2017

Dana Doheny, Ram Srinivasan, Silvère Pagant et al. · Journal of Medical Genetics · 2018 · 135 citations

, , +16

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia

Christine Klein, Mitchell F. Brin, Patricia Kramer et al. · Proceedings of the National Academy of Sciences · 1999 · 124 citations

, , +13

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