Arti Pandya

Two Genes That Map to the STSL Locus Cause Sitosterolemia: Genomic Structure and Spectrum of Mutations Involving Sterolin-1 and Sterolin-2, Encoded by ABCG5 and ABCG8, Respectively

Kangmo Lu, Mi-Hye Lee, E. Starr Hazard et al. · The American Journal of Human Genetics · 2001 · 353 citations · Full text

Genetic Disorder, Medicine, Genetics +6

Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

Ignacio del Castillo, Miguel A. Moreno‐Pelayo, Francisco Castillo et al. · The American Journal of Human Genetics · 2003 · 289 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +9

A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

Sami S. Amr, Cindy Heisey, Min Zhang et al. · The American Journal of Human Genetics · 2007 · 281 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Raye Lynn Alford, Kathleen S. Arnos, Michelle Fox et al. · Genetics in Medicine · 2014 · 267 citations · Full text

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands

Arti Pandya, Kathleen S. Arnos, Xia J. Xia et al. · Genetics in Medicine · 2003 · 160 citations

Genetic Disorder, Genetics, Molecular Biology +5