Concepedia

Junaid Shabbeer

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Publications

14

Citations

982

H-Index

13

Active since

1993

Affiliations

Icahn School of Medicine at Mount Sinai(Current)

New York University

Tokyo Women's Medical University

University of Monastir

Hôpital Farhat Hached

Junaid Shabbeer is an author at Icahn School of Medicine at Mount Sinai specializing in medicine, molecular genetics, and genetics.

Top concepts

Publications per year

1993–2018

14

Publications

14

Fabry disease: Characterization of ?-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

Makiko Yasuda, Junaid Shabbeer, Stacy D. Benson et al. · Human Mutation · 2003 · 146 citations

Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

Junaid Shabbeer, Makiko Yasuda, Stacy D. Benson et al. · Human Genomics · 2006 · 142 citations · Full text

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

Patrícia Ashton‐Prolla, Bingdu Tong, Junaid Shabbeer et al. · PubMed · 2000 · 115 citations

Characterization of 107 Genomic DNA Reference Materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1

Victoria M. Pratt, Barbara A. Zehnbauer, Jean Amos Wilson et al. · Journal of Molecular Diagnostics · 2010 · 108 citations · Full text

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Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype

Junaid Shabbeer, Makiko Yasuda, Edlira Luca et al. · Molecular Genetics and Metabolism · 2002 · 89 citations

, , +10

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