Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility

Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD

(2020) Chaofeng Tu et al.   HUMAN GENETICS

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

(2020) Chunyu Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss‐of‐function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella

(2020) Yihong Yang et al.   CLINICAL GENETICS

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

(2019) Ying Shen et al.   Nature Communications

DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella

(2019) Yang Li et al.   CLINICAL GENETICS

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

(2019) Charles Coutton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

(2019) Wangjie Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

(2019) Chunyu Liu et al.   JOURNAL OF MEDICAL GENETICS

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

(2019) Marjorie Whitfield et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations

(2019) Zine‐Eddine Kherraf et al.   CLINICAL GENETICS

Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype

(2019) Yanwei Sha et al.   CLINICAL GENETICS

Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF)

(2019) Wensheng Liu et al.   JOURNAL OF MEDICAL GENETICS

A DNAH17 missense variant causes flagella destabilization and asthenozoospermia

(2019) Beibei Zhang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella

(2019) Yanwei Sha et al.   ANNALS OF HUMAN GENETICS

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse

(2018) Frederick N. Dong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia

(2018) Patrick Lorès et al.   HUMAN MOLECULAR GENETICS

OUP accepted manuscript

(2018)   HUMAN REPRODUCTION

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

(2018) Yasmina Auguste et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2018) Zine-Eddine Kherraf et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Patients with multiple morphological abnormalities of the sperm flagella harbouring CFAP44 or CFAP43 mutations have a good pregnancy outcome following intracytoplasmic sperm injection

(2018) Yan-Wei Sha et al.   ANDROLOGIA

Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia

(2018) Wangjie Liu et al.   Journal of Genetics and Genomics

Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility

(2018) Weiyu Li et al.   JOURNAL OF HUMAN GENETICS

Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella

(2018) Xiaojin He et al.   JOURNAL OF MEDICAL GENETICS

DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population

(2017) Yanwei Sha et al.   FERTILITY AND STERILITY

A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF)

(2017) Yan-Wei Sha et al.   GENE

Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF)

(2017) Yan-Wei Sha et al.   Reproductive Sciences

HomozygousDNAH1frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese

(2016) X. Wang et al.   CLINICAL GENETICS

Patients with multiple morphological abnormalities of the sperm flagella due toDNAH1mutations have a good prognosis following intracytoplasmic sperm injection

(2016) Clémentine Wambergue et al.   HUMAN REPRODUCTION

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals newDNAH1mutations

(2016) Amir Amiri-Yekta et al.   HUMAN REPRODUCTION

Teratozoospermia: spotlight on the main genetic actors in the human

(2015) C. Coutton et al.   HUMAN REPRODUCTION UPDATE

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

(2013) Mariem Ben Khelifa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH