Mohnish Suri

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith et al. · Nature Genetics · 2003 · 426 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

Elizabeth Bancroft, Elizabeth Page, Elena Castro et al. · European Urology · 2014 · 247 citations · Full text

Activating mutations in <i>STIM1</i> and <i>ORAI1</i> cause overlapping syndromes of tubular myopathy and congenital miosis

Vasyl Nesin, Graham B. Wiley, Maria Kousi et al. · Proceedings of the National Academy of Sciences · 2014 · 242 citations · Full text

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

Elizabeth Page, Elizabeth Bancroft, Mark N. Brook et al. · European Urology · 2019 · 231 citations · Full text