Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders

The genetic architecture of morphological abnormalities of the sperm tail

(2020) Aminata Touré et al.   HUMAN GENETICS

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

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

(2020) Mingrong Lv et al.   JOURNAL OF MEDICAL GENETICS

Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

(2020) Kazuhiko Takeuchi et al.   Molecular Genetics & Genomic Medicine

Haploid male germ cells—the Grand Central Station of protein transport

(2020) Christiane Pleuger et al.   HUMAN REPRODUCTION UPDATE

Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice

(2020) Xiaojin He et al.   AMERICAN JOURNAL OF HUMAN 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

ENU-induced mutant allele of Dnah1 , ferf1 , causes abnormal sperm behavior and fertilization failure in mice

(2019) Jianjun Hu et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

A systematic review and standardized clinical validity assessment of male infertility genes

(2019) Manon S Oud et al.   HUMAN REPRODUCTION

The intramembrane protease SPPL2c promotes male germ cell development by cleaving phospholamban

(2019) Johannes Niemeyer et al.   EMBO REPORTS

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

Signal peptide peptidase‐like 2c impairs vesicular transport and cleaves SNARE proteins

(2019) Alkmini A Papadopoulou et al.   EMBO REPORTS

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

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

Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities

(2019) Yoshiro Morimoto et al.   NEUROLOGY

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

Recurring large deletion in DRC1 ( CCDC164 ) identified as causing primary ciliary dyskinesia in two Asian patients

(2019) Kozo Morimoto et al.   Molecular Genetics & Genomic Medicine

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations

(2019) Weili Wang et al.   JOURNAL OF MEDICAL GENETICS

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice

(2019) Weiyu Li et al.   JOURNAL OF MEDICAL GENETICS

A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella

(2019) Xueguang Zhang et al.   CLINICAL GENETICS

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

(2019) Julie Beurois et al.   HUMAN REPRODUCTION

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

(2019) Chaofeng Tu et al.   Scientific Reports

Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1–4 of DRC1 in Japanese patients with recurrent sinopulmonary infection

(2019) Naoto Keicho et al.   Molecular Genetics & Genomic Medicine

Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice

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

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

(2019) Patrick Lorès et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

(2018) Charles Coutton et al.   Nature Communications

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

CFAP70 Is a Novel Axoneme-Binding Protein That Localizes at the Base of the Outer Dynein Arm and Regulates Ciliary Motility

(2018) Noritoshi Shamoto et al.   Cells

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

Novel CFAP43 and CFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF)

(2018) Huan Wu et al.   REPRODUCTIVE BIOMEDICINE ONLINE

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

A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes

(2017) Moran Gershoni et al.   GENETICS IN MEDICINE

RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data

(2016) Tomasz Stokowy et al.   BIOINFORMATICS

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

The Human Centriolar Protein CEP135 Contains a Two-Stranded Coiled-Coil Domain Critical for Microtubule Binding

(2016) Sebastian Kraatz et al.   STRUCTURE

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia

(2016) You Li et al.   PLoS Genetics

A MEIG1/PACRG complex in the manchette is essential for building the sperm flagella

(2015) W. Li et al.   DEVELOPMENT

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

A systematic review of recent clinical practice guidelines and best practice statements for the evaluation of the infertile male

(2015) Sandro C. Esteves et al.   INTERNATIONAL UROLOGY AND NEPHROLOGY

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

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 nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

(2013) Maureen Wirschell et al.   NATURE GENETICS

A human phospholipid phosphatase activated by a transmembrane control module

(2012) Christian R. Halaszovich et al.   JOURNAL OF LIPID RESEARCH

Evolution of the Voltage Sensor Domain of the Voltage-Sensitive Phosphoinositide Phosphatase VSP/TPTE Suggests a Role as a Proton Channel in Eutherian Mammals

(2012) K. A. Sutton et al.   MOLECULAR BIOLOGY AND EVOLUTION

A comprehensive gene mutation screen in men with asthenozoospermia

(2011) Liesbeth Visser et al.   FERTILITY AND STERILITY

MDC1 directs chromosome-wide silencing of the sex chromosomes in male germ cells

(2011) Y. Ichijima et al.   GENES & DEVELOPMENT

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

(2011) Madeline A Lancaster et al.   NATURE MEDICINE

The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes

(2010) Christakis Panayiotou et al.   BIOCHEMICAL JOURNAL

Two cases of sperm immotility: a mosaic of flagellar alterations related to dysplasia of the fibrous sheath and abnormalities of head-neck attachment

(2010) Elena Moretti et al.   FERTILITY AND STERILITY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse

(2010) G. R. Wilson et al.   HUMAN MOLECULAR GENETICS

Towards a knowledge-based Human Protein Atlas

(2010) Mathias Uhlen et al.   NATURE BIOTECHNOLOGY

Ciliary defects and genetics of primary ciliary dyskinesia

(2009) Estelle Escudier et al.   Paediatric Respiratory Reviews

Mutation of Murine Adenylate Kinase 7 Underlies a Primary Ciliary Dyskinesia Phenotype

(2008) Angeles Fernandez-Gonzalez et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY