Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa

The genetic architecture of morphological abnormalities of the sperm tail

(2020) Aminata Touré et al.   HUMAN GENETICS

Beyond Acephalic Spermatozoa: The Complexity of Intracytoplasmic Sperm Injection Outcomes

(2020) Hua Nie et al.   Biomed Research International

Novel mutations in PMFBP1 , TSGA10 and SUN5 : Expanding the spectrum of mutations that may cause acephalic spermatozoa

(2020) Gang Liu et al.   CLINICAL GENETICS

Loss‐of‐function mutation in TSGA10 causes acephalic spermatozoa phenotype in human

(2020) Yuanyuan Ye et al.   Molecular Genetics & Genomic Medicine

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

Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome

(2018) Fuxi Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

OUP accepted manuscript

(2018)   BIOINFORMATICS

TSGA10 is a novel candidate gene associated with acephalic spermatozoa

(2018) Y.-W. Sha et al.   CLINICAL GENETICS

Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China

(2018) Yan-Wei Sha et al.   GENE

Ultra-structure of the sperm head-to-tail linkage complex in the absence of the spermatid-specific LINC component SPAG4

(2018) Kefei Yang et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Patients with acephalic spermatozoa syndrome linked to SUN5 mutations have a favorable pregnancy outcome from ICSI

(2018) Jianzheng Fang et al.   HUMAN REPRODUCTION

Mechanistic insights into acephalic spermatozoa syndrome–associated mutations in the humanSUN5gene

(2018) Yongliang Shang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Strelka2: fast and accurate calling of germline and somatic variants

(2018) Sangtae Kim et al.   NATURE METHODS

Conserved SUN-KASH Interfaces Mediate LINC Complex-Dependent Nuclear Movement and Positioning

(2018) Natalie E. Cain et al.   CURRENT BIOLOGY

Biallelic mutations in PMFBP1 cause acephalic spermatozoa

(2018) Yan-Wei Sha et al.   CLINICAL GENETICS

Homozygous deletion of SUN5 in three men with decapitated spermatozoa

(2017) Razan A. Elkhatib et al.   HUMAN MOLECULAR GENETICS

Essential role for SUN5 in anchoring sperm head to the tail

(2017) Yongliang Shang et al.   eLife

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

(2016) Fuxi Zhu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic abnormalities leading to qualitative defects of sperm morphology or function

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

Another look at human sperm morphology

(2015) J. Auger et al.   HUMAN REPRODUCTION

A unique view on male infertility around the globe

(2015) Ashok Agarwal et al.   Reproductive Biology and Endocrinology

Dynamics of Sun5 Localization during Spermatogenesis in Wild Type and Dpy19l2 Knock-Out Mice Indicates That Sun5 Is Not Involved in Acrosome Attachment to the Nuclear Envelope

(2015) Sandra Yassine et al.   PLoS One

SAMBLASTER: fast duplicate marking and structural variant read extraction

(2014) G. G. Faust et al.   BIOINFORMATICS

National, Regional, and Global Trends in Infertility Prevalence Since 1990: A Systematic Analysis of 277 Health Surveys

(2012) Maya N. Mascarenhas et al.   PLOS MEDICINE

SPAG4L, a Novel Nuclear Envelope Protein Involved in the Meiotic Stage of Spermatogenesis

(2011) Xian-Zhen Jiang et al.   DNA AND CELL BIOLOGY

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

(2010) Heng Li et al.   BIOINFORMATICS

SPAG4L/SPAG4L-2 are testis-specific SUN domain proteins restricted to the apical nuclear envelope of round spermatids facing the acrosome

(2010) C. Frohnert et al.   MOLECULAR HUMAN REPRODUCTION

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

World Health Organization reference values for human semen characteristics*‡

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