Rezan Topaloğlu

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 · 394 citations · Full text

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 · 325 citations · Full text

Genetic Disorder, Medicine, Genetics +12

The MEST score provides earlier risk prediction in lgA nephropathy

Sean J. Barbour, Gabriela Espino-Hernández, Heather N. Reich et al. · Kidney International · 2015 · 279 citations · Full text

Mest Score, Glomerulonephritis, Medicine +7

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 · 272 citations · Full text

Genetics, Immunodeficiencies, Immune Regulation +26

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 212 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5