Disease gene discovery in male infertility: past, present and future

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives

(2020) Laura Kasak et al.   HUMAN GENETICS

The genetic architecture of morphological abnormalities of the sperm tail

(2020) Aminata Touré et al.   HUMAN GENETICS

Evaluating genetic causes of azoospermia: What can we learn from a complex cellular structure and single-cell transcriptomics of the human testis?

(2020) Samuele Soraggi et al.   HUMAN GENETICS

Genetics of the congenital absence of the vas deferens

(2020) Eric Bieth et al.   HUMAN GENETICS

Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice

(2020) Henriett Butz et al.   HUMAN GENETICS

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

(2020) Biagio Cangiano et al.   HUMAN GENETICS

A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse

(2020) Brendan J. Houston et al.   HUMAN GENETICS

A new MEIOB mutation is a recurrent cause for azoospermia and testicular meiotic arrest

(2019) Moran Gershoni et al.   HUMAN REPRODUCTION

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

(2019) Manon S Oud et al.   HUMAN REPRODUCTION

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

(2019) Lora J. H. Bean et al.   GENETICS IN MEDICINE

Search-and-replace genome editing without double-strand breaks or donor DNA

(2019) Andrew V. Anzalone et al.   NATURE

Structural variation in the sequencing era

(2019) Steve S. Ho et al.   NATURE REVIEWS GENETICS

SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility

(2019) Samantha L.P. Schilit et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The X chromosome and male infertility

(2019) Matthias Vockel et al.   HUMAN GENETICS

Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome

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

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment

(2018) Ana Fernandez-Marmiesse et al.   CURRENT MEDICINAL CHEMISTRY

From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia

(2018) Csilla Krausz et al.   GENETICS IN MEDICINE

Disorders of spermatogenesis

(2018) Frank Tüttelmann et al.   Medizinische Genetik

Cost-effectiveness analyses of genetic and genomic diagnostic tests

(2018) Katherine Payne et al.   NATURE REVIEWS GENETICS

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

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

(2018) Charles Coutton et al.   Nature Communications

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

Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia

(2018) Laura Kasak et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis

(2018) Bo Zhou et al.   JOURNAL OF MEDICAL GENETICS

XRCC2 mutation causes meiotic arrest, azoospermia and infertility

(2018) Yongjia Yang et al.   JOURNAL OF MEDICAL GENETICS

Biallelic mutations in PMFBP1 cause acephalic spermatozoa

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

Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility

(2018) Ramanagouda Ramanagoudr-Bhojappa et al.   PLoS Genetics

Spermatogenic failure and the Y chromosome

(2017) C. Krausz et al.   HUMAN GENETICS

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

(2017) Erica D. Smith et al.   HUMAN MUTATION

Improved maize reference genome with single-molecule technologies

(2017) Yinping Jiao et al.   NATURE

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

(2017) Mircea Cretu Stancu et al.   Nature Communications

Progress and future prospect of in vitro spermatogenesis

(2017) Fahar Ibtisham et al.   Oncotarget

Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa

(2017) Lin Li et al.   Oncotarget

Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred Mice

(2017) Krista A. Geister et al.   G3-Genes Genomes Genetics

Guidelines for morpholino use in zebrafish

(2017) Didier Y. R. Stainier et al.   PLoS Genetics

Novel concepts in the aetiology of male reproductive impairment

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

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

Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

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

Causes of male infertility: a 9-year prospective monocentre study on 1737 patients with reduced total sperm counts

(2016) M. Punab et al.   HUMAN REPRODUCTION

Genome-wide significance testing of variation from single case exomes

(2016) Amy B Wilfert et al.   NATURE GENETICS

Long-read sequence assembly of the gorilla genome

(2016) D. Gordon et al.   SCIENCE

TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse

(2015) F. Yang et al.   EMBO Molecular Medicine

Exome sequencing reveals a nonsense mutation inTEX15causing spermatogenic failure in a Turkish family

(2015) Ozlem Okutman et al.   HUMAN MOLECULAR GENETICS

Assembly and diploid architecture of an individual human genome via single-molecule technologies

(2015) Matthew Pendleton et al.   NATURE METHODS

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

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

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

Yeast model identifies ENTPD6 as a potential non-obstructive azoospermia pathogenic gene

(2015) Qian Wang et al.   Scientific Reports

Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure

(2015) A. C. Lima et al.   Andrology

PacBio Sequencing and Its Applications

(2015) Anthony Rhoads et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

Generation ofEsr1-Knockout Rats Using Zinc Finger Nuclease-Mediated Genome Editing

(2014) M. A. Karim Rumi et al.   ENDOCRINOLOGY

DMRT1 mutations are rarely associated with male infertility

(2014) Ann-Christin Tewes et al.   FERTILITY AND STERILITY

Identification of seven genes essential for male fertility through a genome-wide association study of non-obstructive azoospermia and RNA interference-mediated large-scale functional screening in Drosophila

(2014) J. Yu et al.   HUMAN MOLECULAR GENETICS

Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility

(2014) D Lo Giacco et al.   JOURNAL OF MEDICAL GENETICS

Truncating mutations inTAF4BandZMYND15causing recessive azoospermia

(2014) Özgecan Ayhan et al.   JOURNAL OF MEDICAL GENETICS

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia

(2014) Catarina M Seabra et al.   REPRODUCTIVE BIOMEDICINE ONLINE

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

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering

(2013) Thomas Gaj et al.   TRENDS IN BIOTECHNOLOGY

Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

(2013) Alexandra M. Lopes et al.   PLoS Genetics

European Association of Urology Guidelines on Male Infertility: The 2012 Update

(2012) Andreas Jungwirth et al.   EUROPEAN UROLOGY

A dominant-negative mutation of HSF2 associated with idiopathic azoospermia

(2012) Lisha Mou et al.   HUMAN GENETICS

The androgen receptor gene mutations database: 2012 update

(2012) Bruce Gottlieb et al.   HUMAN MUTATION

Array comparative genomic hybridization in male infertility

(2012) K. Stouffs et al.   HUMAN REPRODUCTION

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia

(2012) C. Coutton et al.   HUMAN REPRODUCTION

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males

(2012) Csilla Krausz et al.   PLoS One

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Male infertility: Pathogenesis and clinical diagnosis

(2011) Csilla Krausz   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

In vitro production of functional sperm in cultured neonatal mouse testes

(2011) Takuya Sato et al.   NATURE

Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome

(2011) Frank Tüttelmann et al.   PLoS One

XX Sex Chromosomes in a Human Male

(2010) Albert Chapelle et al.   ACTA MEDICA SCANDINAVICA

Chromosomes and human infertility. I. Mitotic and meiotic chromosome studies in 202 consecutive male patients

(2010) Lucien Koulischer et al.   CLINICAL GENETICS

The effect of structural aberrations of the chromosomes on reproductive fitness in man

(2010) Patricia A. Jacobs et al.   CLINICAL GENETICS

Assembly of large genomes using second-generation sequencing

(2010) M. C. Schatz et al.   GENOME RESEARCH

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Genome-wide ENU Mutagenesis for the Discovery of Novel Male Fertility Regulators

(2010) Duangporn Jamsai et al.   Systems Biology in Reproductive Medicine

Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

(2009) Philippe Duquesnoy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Y chromosome gr/gr deletions are a risk factor for low semen quality

(2009) L. Visser et al.   HUMAN REPRODUCTION

Genome-Wide Study of Single-Nucleotide Polymorphisms Associated With Azoospermia and Severe Oligozoospermia

(2009) K. I. Aston et al.   JOURNAL OF ANDROLOGY

Meiotic failure in male mice lacking an X-linked factor

(2008) F. Yang et al.   GENES & DEVELOPMENT