Junaid Shabbeer

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

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +16

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 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

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 · 91 citations

Life Sciences, Genetics, Molecular Genetics +8