Raman Sood

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Qing Zhou, Dan Yang, Amanda K. Ombrello et al. · New England Journal of Medicine · 2014 · 893 citations · Full text

Life Sciences, Genetics, Neurology +14

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome

John D. Carpten, Christiane M. Robbins, Andrea Villablanca et al. · Nature Genetics · 2002 · 749 citations

Medicine, Endocrinology, Molecular Genetics +11

Evidence for a prostate cancer susceptibility locus on the X chromosome.

Jianfeng Xu, Deborah Meyers, Diha Freije et al. · Nature Genetics · 1998 · 693 citations

Medicine, Genetics, Molecular Genetics +11

Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.

Nurit Zaks, JE Balow, Elaine Mansfield et al. · Cell · 1997 · 668 citations

Life Sciences, Genetics, Molecular Genetics +10

Germline mutations in the ribonuclease L gene in families showing linkage with HPC1

John D. Carpten, Nina N. Nupponen, Sarah D. Isaacs et al. · Nature Genetics · 2002 · 527 citations

Life Sciences, Genetics, Molecular Genetics +8