Rezan Topaloğlu

A candidate gene for familial Mediterranean fever

Alain Bernot, Christian Clépet, Corinne Da Silva et al. · Nature Genetics · 1997 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +7

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Saskia F. Heeringa, Gil Chernin, Moumita Chaki et al. · Journal of Clinical Investigation · 2011 · 400 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population

Engin Yılmaz, Seza Özen, Ali Düzova et al. · European Journal of Human Genetics · 2001 · 332 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The MEST score provides earlier risk prediction in lgA nephropathy

Sean J. Barbour, Gabriela Espino-Hernández, Heather N. Reich et al. · Kidney International · 2015 · 289 citations · Full text

Medicine, Internal Medicine, Nephrology +10

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

Qing Zhou, Xiaomin Yu, Erkan Demirkaya et al. · Proceedings of the National Academy of Sciences · 2016 · 281 citations · Full text

Medicine, Immunology, Molecular Genetics +17