Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia

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

Phenotypic varieties of sperm pathology: Genetic abnormalities or environmental influences can result in different patterns of abnormal spermatozoa

(2018) Hector E. Chemes   ANIMAL REPRODUCTION SCIENCE

The adult human testis transcriptional cell atlas

(2018) Jingtao Guo et al.   CELL RESEARCH

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

(2017) Manon S. Oud et al.   HUMAN MUTATION

Katanin-like 2 (KATNAL2) functions in multiple aspects of haploid male germ cell development in the mouse

(2017) Jessica E. M. Dunleavy et al.   PLoS Genetics

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

(2016) Tomasz Stokowy et al.   BIOINFORMATICS

Genetic abnormalities leading to qualitative defects of sperm morphology or function

(2016) P.F. Ray et al.   CLINICAL GENETICS

A new mutation identified in SPATA16 in two globozoospermic patients

(2016) Elias ElInati et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

High-throughput discovery of novel developmental phenotypes

(2016) Mary E. Dickinson et al.   NATURE

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

Quantitative Phosphoproteomics Analysis Reveals a Key Role of Insulin Growth Factor 1 Receptor (IGF1R) Tyrosine Kinase in Human Sperm Capacitation

(2015) Jing Wang et al.   MOLECULAR & CELLULAR PROTEOMICS

Identification of a newDPY19L2mutation and a better definition ofDPY19L2deletion breakpoints leading to globozoospermia

(2015) Houda Ghédir et al.   MOLECULAR HUMAN REPRODUCTION

Reproductive outcome in globozoospermic men: update and prospects

(2015) L. Chansel-Debordeaux et al.   Andrology

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

(2014) M. E. M. Pierpont et al.   PEDIATRICS

Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status

(2013) P. Kuentz et al.   HUMAN REPRODUCTION

Loss of GGN Leads to Pre-Implantation Embryonic Lethality and Compromised Male Meiotic DNA Double Strand Break Repair in the Mouse

(2013) Duangporn Jamsai et al.   PLoS One

Evaluation of potential protein biomarkers in patients with high sperm DNA damage

(2013) Bahar Behrouzi et al.   Systems Biology in Reproductive Medicine

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Acrosomal biogenesis in human globozoospermia: immunocytochemical, ultrastructural and proteomic studies

(2012) C. Alvarez Sedo et al.   HUMAN REPRODUCTION

A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

(2011) Radu Harbuz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DPY19L2 Deletion as a Major Cause of Globozoospermia

(2011) Isabelle Koscinski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association of mutations in the zona pellucida binding protein 1 (ZPBP1) gene with abnormal sperm head morphology in infertile men

(2011) Alexander N. Yatsenko et al.   MOLECULAR HUMAN REPRODUCTION

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

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

PICK1 deficiency causes male infertility in mice by disrupting acrosome formation

(2009) Nan Xiao et al.   JOURNAL OF CLINICAL INVESTIGATION

ICSI: Where We Have Been and Where We Are Going

(2009) Gianpiero Palermo et al.   SEMINARS IN REPRODUCTIVE MEDICINE

Characterization of gametogenetin 1 (GGN1) and its potential role in male fertility through the interaction with the ion channel regulator, cysteine-rich secretory protein 2 (CRISP2) in the sperm tail

(2008) Duangporn Jamsai et al.   REPRODUCTION