Novel Compound Heterozygous Mutation in FSIP2 Causes Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) and Male Infertility

A Ca2+-activated NADPH Oxidase in Testis, Spleen, and Lymph Nodes

Botond Bánfi, Gergely Molnár, Andrés D. Maturana et al. · Journal of Biological Chemistry · 2001 · 608 citations · Full text

Life Sciences, Biochemistry, Cell Biology +14

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

Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility

Chunyu Liu, Haruhiko Miyata, Yang Gao et al. · The American Journal of Human Genetics · 2020 · 205 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility

Chunyu Liu, Chaofeng Tu, Lingbo Wang et al. · The American Journal of Human Genetics · 2021 · 143 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

Guillaume Martinez, Zine‐Eddine Kherraf, Raoudha Zouari et al. · Human Reproduction · 2018 · 117 citations · Full text

Medicine, Genetics, Molecular Genetics +16