John Rendu

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

Mariem Ben Khelifa, Charles Coutton, Raoudha Zouari et al. · The American Journal of Human Genetics · 2013 · 479 citations · Full text

Medicine, Genetics, Molecular Genetics +16

From lowe syndrome to Dent disease: correlations between mutations of the <i>OCRL1</i> gene and clinical and biochemical phenotypes

Haifa Hichri, John Rendu, Nicole Monnier et al. · Human Mutation · 2010 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Johann Böhm, Valérie Biancalana, Edoardo Malfatti et al. · Brain · 2014 · 103 citations

Medicine, Genetics, Molecular Genetics +16

Phospholipase A2 Receptor–Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency

Stéphane Bally, Hanna Dêbiec, D. Ponard et al. · Journal of the American Society of Nephrology · 2016 · 101 citations · Full text

Medicine, Nephrology, Pathology +17

<i>STAC3</i>variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Irina Zaharieva, Anna Sárközy, Pinki Munot et al. · Human Mutation · 2018 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14