Fatih Özaltın

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Bernward Hinkes, Roger C. Wiggins, Rasheed Gbadegesin et al. · Nature Genetics · 2006 · 557 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (<i>NPHS1</i>, <i>NPHS2</i>, <i>WT1</i>, and <i>LAMB2</i>)

Bernward Hinkes, Bettina E. Mucha, Christopher N. Vlangos et al. · PEDIATRICS · 2007 · 432 citations

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

Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children

Agnes Trautmann, Monica Bodria, Fatih Özaltın et al. · Clinical Journal of the American Society of Nephrology · 2015 · 274 citations · Full text

<i>MYO1E</i>Mutations and Childhood Familial Focal Segmental Glomerulosclerosis

Caterina Mele, Paraskevas Iatropoulos, Roberta Donadelli et al. · New England Journal of Medicine · 2011 · 245 citations · Full text