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Pradyumna D. Phatak
Researcher at University of Rochester
Publications - 34
Citations - 1033
Pradyumna D. Phatak is an academic researcher from University of Rochester. The author has contributed to research in topics: Hemochromatosis & Population. The author has an hindex of 10, co-authored 34 publications receiving 997 citations. Previous affiliations of Pradyumna D. Phatak include Rochester General Health System.
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Journal ArticleDOI
Mutation Analysis in Hereditary Hemochromatosis
Ernest Beutler,Terri Gelbart,Carol West,Pauline Lee,Michele Adams,Ryan Blackstone,Paul J. Pockros,Michael P. Kosty,Charles P. Venditti,Charles P. Venditti,Pradyumna D. Phatak,Nicole K. Seese,Karen Chorney,Amy E. Ten Elshof,Glenn S. Gerhard,Michael J. Chorney +15 more
TL;DR: The DNA of 147 patients of European origin clinically diagnosed with idiopathic hemochromatosis and 193 controls was examined for mutations of the HLA-H gene at nt 845 and nt 187, suggesting the presence of as yet undiscovered mutations existing in trans with 845A and in linkage disequilibrium with 187G.
Journal ArticleDOI
Gynaecological and obstetrical morbidity in women with type I von Willebrand disease: results of a patient survey
Peter A. Kouides,Pradyumna D. Phatak,P. Burkart,C. Braggins,C. Cox,Z. Bernstein,L. Belling,P. Holmberg,W. Maclaughlin,Fred M. Howard +9 more
TL;DR: The rationale for ongoing international efforts to increase awareness of type 1 von Willebrand disease as a cause for menorrhagia and to improve the quality of life in females with known vWD is supported.
Journal ArticleDOI
Prevalence of Hereditary Hemochromatosis in 16 031 Primary Care Patients
Pradyumna D. Phatak,Ronald L. Sham,Richard F. Raubertas,Karin Dunnigan,Mary Theresa O'Leary,Caroline Braggins,Joseph Cappuccio +6 more
TL;DR: The goal was to estimate the prevalence of hemochromatosis and to establish the feasibility of screening for hemochROMatosis in a large primary care population.
Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload
Christine E. McLaren,Mary J. Emond,V.N. Subramaniam,Pradyumna D. Phatak,James C. Barton,Paul C. Adams,Justin B. Goh,Cameron J. McDonald,Lawrie W. Powell,Lyle C. Gurrin,Katrina J. Allen,Deborah A. Nickerson,Tin Louie,Grant A. Ramm,Gregory J. Anderson,Gordon D. McLaren +15 more
TL;DR: In this paper, the authors performed exome sequencing of DNA from 35 male HFE C282Y homozygotes with either markedly increased iron stores (n=22; cases) or with normal or mildly increased iron levels (n =13; controls).
Journal ArticleDOI
Prevalence and Penetrance of HFE Mutations in 4865 Unselected Primary Care Patients
Pradyumna D. Phatak,Pradyumna D. Phatak,Daniel H. Ryan,Joseph Cappuccio,Joseph Cappuccio,David Oakes,Caroline Braggins,Kim Provenzano,Shirley Eberly,Ronald L. Sham,Ronald L. Sham +10 more
TL;DR: The prevalence of the common HFE mutations is the same in the population as previously described and the penetrance of C282Y/C282Y is significant and the clinical penetrance is low.