Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella

Male infertility

(2020) Ashok Agarwal et al.   LANCET

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

Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella

(2019) Chaofeng Tu et al.   Scientific Reports

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

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Variation in DNAH1 may contribute to primary ciliary dyskinesia

(2015) Faiqa Imtiaz et al.   BMC Medical Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

Distinct roles of 1α and 1β heavy chains of the inner arm dynein I1 of Chlamydomonas flagella

(2010) Shiori Toba et al.   MOLECULAR BIOLOGY OF THE CELL

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

(2009) Margaret W Leigh et al.   GENETICS IN MEDICINE

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

(2008) Niki Tomas Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS