Olivia Boyer

<i>INF2</i>Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

Olivia Boyer, Fabien Névo, Emmanuelle Plaisier et al. · New England Journal of Medicine · 2011 · 281 citations · Full text

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

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee et al. · Journal of Clinical Investigation · 2017 · 205 citations · Full text

Genetics, Renal Pathology, Steroid-resistant Nephrotic Syndrome +17

Phenotype–genotype correlation in antenatal and neonatal variants of Bartter syndrome

Karine Brochard, Olivia Boyer, Anne Blanchard et al. · Nephrology Dialysis Transplantation · 2008 · 165 citations

Eculizumab discontinuation in children and adults with atypical hemolytic-uremic syndrome: a prospective multicenter study

Fádi Fakhouri, Marc Fila, Aurélie Hummel et al. · Blood · 2020 · 162 citations · Full text