Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice

PLK1 regulates centrosome migration and spindle dynamics in male mouse meiosis

(2021) Enrique Alfaro et al.   EMBO REPORTS

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

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

Novel loss‐of‐function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice

(2020) Beibei Zhang et al.   CLINICAL GENETICS

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

(2019) Yang Li et al.   CLINICAL GENETICS

Dual Sensing of Physiologic pH and Calcium by EFCAB9 Regulates Sperm Motility

(2019) Jae Yeon Hwang et al.   CELL

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

Comprehensive Integration of Single-Cell Data

(2019) Tim Stuart et al.   CELL

The EMBL-EBI search and sequence analysis tools APIs in 2019

(2019) Fábio Madeira et al.   NUCLEIC ACIDS RESEARCH

The Role of Sperm Centrioles in Human Reproduction – The Known and the Unknown

(2019) Tomer Avidor-Reiss et al.   Frontiers in Cell and Developmental Biology

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

(2019) Anu Sironen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

A DNAH17 missense variant causes flagella destabilization and asthenozoospermia

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

Fast, sensitive and accurate integration of single-cell data with Harmony

(2019) Ilya Korsunsky et al.   NATURE METHODS

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

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

Recovering Gene Interactions from Single-Cell Data Using Data Diffusion

(2018) David van Dijk et al.   CELL

The Mammalian Spermatogenesis Single-Cell Transcriptome, from Spermatogonial Stem Cells to Spermatids

(2018) Brian P. Hermann et al.   Cell 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

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

(2017) Yan-Wei Sha et al.   GENE

Maintaining centrosomes and cilia

(2017) Sascha Werner et al.   JOURNAL OF CELL SCIENCE

Transition Zone Migration: A Mechanism for Cytoplasmic Ciliogenesis and Postaxonemal Centriole Elongation

(2017) Tomer Avidor-Reiss et al.   Cold Spring Harbor Perspectives in Biology

Ciliary Motility: Regulation of Axonemal Dynein Motors

(2017) Rasagnya Viswanadha et al.   Cold Spring Harbor Perspectives in Biology

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

(2016) X. Wang et al.   CLINICAL GENETICS

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

Fine-Tuning Motile Cilia and Flagella: Evolution of the Dynein Motor Proteins from Plants to Humans at High Resolution

(2016) Martin Kollmar   MOLECULAR BIOLOGY AND EVOLUTION

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

Chromosome Preparation From Cultured Cells

(2014) Bradley Howe et al.   Jove-Journal of Visualized Experiments

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

KIF3A is essential for sperm tail formation and manchette function

(2013) Mari S. Lehti et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An Essential Role for Katanin p80 and Microtubule Severing in Male Gamete Production

(2012) Liza O'Donnell et al.   PLoS Genetics

A Fast, Powerful Method for Detecting Identity by Descent

(2011) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The mechanism of dynein motility: Insight from crystal structures of the motor domain

(2011) Carol Cho et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

An update on the clinical assessment of the infertile male

(2011) Sandro C. Esteves et al.   Clinics

Sperm flagella: comparative and phylogenetic perspectives of protein components

(2011) K. Inaba   MOLECULAR HUMAN REPRODUCTION

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

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

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