Benjamin B. Roa

Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2

Benjamin B. Roa, Alfred A. Boyd, Kelly A. Volcik et al. · Nature Genetics · 1996 · 776 citations

Life Sciences, Genetics, Molecular Genetics +8

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Hiroshi Takashima, Cornelius F. Boerkoel, Joy John et al. · Nature Genetics · 2002 · 526 citations

Life Sciences, Genetics, Molecular Biology +15

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

Pragna I. Patel, Benjamin B. Roa, R Schoener-Scott et al. · Nature Genetics · 1992 · 493 citations

Medicine, Genetics, Molecular Genetics +10

Frequency of mutations in individuals with breast cancer referred for <scp><i>BRCA</i></scp><i>1</i> and <scp><i>BRCA</i></scp><i>2</i> testing using next‐generation sequencing with a 25‐gene panel

Nadine Tung, Chiara Battelli, Brian Allen et al. · Cancer · 2014 · 436 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

Benjamin B. Roa, Carlos A. Garcia, Ueli Suter et al. · New England Journal of Medicine · 1993 · 333 citations · Full text

Medicine, Genetics, Molecular Genetics +17