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

The genetic architecture of morphological abnormalities of the sperm tail

(2020) Aminata Touré et al.   HUMAN GENETICS

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

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

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

(2020) Guillaume Martinez et al.   JOURNAL OF MEDICAL 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

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

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

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

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

Asthenozoospermia: Cellular and molecular contributing factors and treatment strategies

(2019) Seyedeh Zahra Shahrokhi et al.   ANDROLOGIA

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

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

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

The X chromosome and male infertility

(2019) Matthias Vockel et al.   HUMAN GENETICS

AnnotSV: an integrated tool for structural variations annotation

(2018) Véronique Geoffroy et al.   BIOINFORMATICS

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

(2017) Yan-Wei Sha et al.   GENE

Novel concepts in the aetiology of male reproductive impairment

(2017) Herman Tournaye et al.   Lancet Diabetes & Endocrinology

Transcriptomic analysis of mitochondrial TFAM depletion changing cell morphology and proliferation

(2017) Woo Rin Lee et al.   Scientific Reports

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

(2016) Olivier Patat et al.   AMERICAN JOURNAL OF HUMAN 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

The human epididymis: its function in sperm maturation

(2016) Robert Sullivan et al.   HUMAN REPRODUCTION UPDATE

Another look at human sperm morphology

(2015) J. Auger et al.   HUMAN REPRODUCTION

X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men

(2015) Alexander N. Yatsenko et al.   NEW ENGLAND JOURNAL OF MEDICINE

Variability in the morphologic assessment of human sperm: use of the strict criteria recommended by the World Health Organization in 2010

(2014) Yongxin Wang et al.   FERTILITY AND STERILITY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

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

Tales of the Tail and Sperm Head AchesChanging concepts on the prognostic significance of sperm pathologies affecting the head, neck and tail

(2011) Héctor E Chemes et al.   ASIAN JOURNAL OF ANDROLOGY

The role of Tet3 DNA dioxygenase in epigenetic reprogramming by oocytes

(2011) Tian-Peng Gu et al.   NATURE

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

World Health Organization reference values for human semen characteristics*‡

(2009) Trevor G. Cooper et al.   HUMAN REPRODUCTION UPDATE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

The mouse X chromosome is enriched for multicopy testis genes showing postmeiotic expression

(2008) Jacob L Mueller et al.   NATURE GENETICS