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

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

(2020) Mingrong Lv et al.   JOURNAL OF MEDICAL 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

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

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

(2018) Mahmoud R. Fassad et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

(2018) Niki T. Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variation in DNAH1 may contribute to primary ciliary dyskinesia

(2015) Faiqa Imtiaz et al.   BMC Medical Genetics

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

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

(2013) Christopher M. Watson et al.   HUMAN MUTATION

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

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