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 · 871 citations · Full text

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

John D. Carpten, Christiane M. Robbins, Andrea Villablanca et al. · Nature Genetics · 2002 · 742 citations

Parathyroid Hormone, Parathyroid Disease, Pathology +2

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

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

Urology, Cytogenetics, X Chromosome +5

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

Mendelian Disorder, Genetic Disorder, Medicine +10

High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9

Gaurav K. Varshney, Wuhong Pei, Matthew C. LaFave et al. · Genome Research · 2015 · 551 citations · Full text

Biology, Bioinformatics, Efficient Multiplexed Gene +15