Pauline Le Tanno

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

Charles Coutton, Amir Amiri‐Yekta, Zine‐Eddine Kherraf et al. · Nature Communications · 2018 · 239 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new<i>DNAH1</i>mutations

Amir Amiri‐Yekta, Charles Coutton, Zine‐Eddine Kherraf et al. · Human Reproduction · 2016 · 124 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

Zine‐Eddine Kherraf, Amir Amiri‐Yekta, Denis Dacheux et al. · The American Journal of Human Genetics · 2018 · 113 citations · Full text

Medicine, Genetics, Molecular Genetics +17

<i>PBX1</i> haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Pauline Le Tanno, Julie Breton, Marie Bidart et al. · Journal of Medical Genetics · 2017 · 60 citations

Medicine, Genetics, Molecular Genetics +17

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Camille Sayou, Pauline Le Tanno, Émilie Tisserant et al. · Genetics in Medicine · 2020 · 53 citations

Life Sciences, Genetics, Molecular Genetics +12