Multiomics analysis of male infertility

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

(2021) Chunyu Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Single-cell analysis of the developing human testis reveals somatic niche cell specification and fetal germline stem cell establishment

(2021) Jingtao Guo et al.   Cell Stem Cell

Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia

(2021) Ting Guo et al.   HUMAN GENETICS

Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella

(2021) Yang Gao et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility

(2021) Mingxiang Weng et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans

(2021) Suixing Fan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice

(2021) Jing Dai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome

(2021) Patrick Lorès et al.   HUMAN GENETICS

A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination

(2021) Yang Li et al.   HUMAN REPRODUCTION

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

(2021) Caroline Cazin et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A novel splicing variant in DNAH8 causes asthenozoospermia

(2021) Zhou Zhou et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia

(2021) Dongdong Tang et al.   Reproductive Biology and Endocrinology

Pathogenic variants of ATG4D in infertile men with non‐obstructive azoospermia identified using whole‐exome sequencing

(2021) Yanwei Sha et al.   CLINICAL GENETICS

Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella

(2021) Hua-ying Hu et al.   DNA AND CELL BIOLOGY

Genetics of Azoospermia

(2021) Francesca Cioppi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Pathogenesis of acephalic spermatozoa syndrome caused by SUN5 variant

(2021) Duo Zhang et al.   MOLECULAR HUMAN REPRODUCTION

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

(2021) Jae Yeon Hwang et al.   Frontiers in Cell and Developmental Biology

Novel bi-allelic mutations in DNAH1 cause multiple morphological abnormalities of the sperm flagella resulting in male infertility

(2021) Chuan Jiang et al.   Translational Andrology and Urology

Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice

(2021) Chaofeng Tu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

FBXO43 variants in patients with female infertility characterized by early embryonic arrest

(2021) Weijie Wang et al.   HUMAN REPRODUCTION

Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders

(2021) M S Oud et al.   HUMAN REPRODUCTION

Advances in sperm analysis: techniques, discoveries and applications

(2021) Changsheng Dai et al.   Nature Reviews Urology

A Novel Noncanonical Splicing Mutation of ANOS1 Gene in Siblings with Kallmann Syndrome Identified by Whole-Exome Sequencing

(2021) Yanqing Xia et al.   Reproductive Sciences

Epigenetics of Male Infertility: The Role of DNA Methylation

(2021) John Charles Rotondo et al.   Frontiers in Cell and Developmental Biology

Dissecting mammalian spermatogenesis using spatial transcriptomics

(2021) Haiqi Chen et al.   Cell Reports

The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty

(2020) Jingtao Guo et al.   Cell Stem Cell

Functional analysis of SEMA3A variants identified in Chinese patients with isolated hypogonadotropic hypogonadism

(2020) Wenting Dai et al.   CLINICAL GENETICS

An M1AP homozygous splice‐site mutation associated with severe oligozoospermia in a consanguineous family

(2020) Chaofeng Tu et al.   CLINICAL GENETICS

A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia

(2020) Chaofeng Tu et al.   FERTILITY AND STERILITY

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

(2020) Laura Kasak et al.   HUMAN GENETICS

Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD

(2020) Chaofeng Tu et al.   HUMAN GENETICS

Unraveling epigenomic abnormality in azoospermic human males by WGBS, RNA-Seq, and transcriptome profiling analyses

(2020) Xiaolong Wu et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia

(2020) Mahdieh Pashaei et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

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

The testis‐specific gene 1700102P08Rik is essential for male fertility

(2020) Xiao‐Long Wu et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

Limitations of exome sequencing in detecting rare and undiagnosed diseases

(2020) Kendall J. Burdick et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2020) Gang Liu et al.   CLINICAL GENETICS

Whole-Exome Sequencing of a Large Chinese Azoospermia and Severe Oligospermia Cohort Identifies Novel Infertility Causative Variants and Genes

(2020) Shitao Chen et al.   HUMAN MOLECULAR GENETICS

A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens

(2020) Huan Wu et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia

(2020) Xiaoqing Ni et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia

(2020) Ying Wang et al.   JOURNAL OF ASSISTED REPRODUCTION AND 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

Single-cell transcriptome analysis of the novel coronavirus (SARS-CoV-2) associated gene ACE2 expression in normal and non-obstructive azoospermia (NOA) human male testes

(2020) Xixi Liu et al.   Science China-Life Sciences

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 Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility

(2020) Margot J. Wyrwoll 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

Epigenetics and genomics in Klinefelter syndrome

(2020) Anne Skakkebæk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Single-Cell RNA Sequencing of Human, Macaque, and Mouse Testes Uncovers Conserved and Divergent Features of Mammalian Spermatogenesis

(2020) Adrienne Niederriter Shami et al.   DEVELOPMENTAL CELL

Single-Cell RNA Sequencing of the Cynomolgus Macaque Testis Reveals Conserved Transcriptional Profiles during Mammalian Spermatogenesis

(2020) Xianzhong Lau et al.   DEVELOPMENTAL CELL

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

(2020) Csilla Krausz et al.   GENETICS IN MEDICINE

Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype

(2020) Yanwei Sha et al.   JOURNAL OF HUMAN GENETICS

Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics

(2020) Maram Arafat et al.   JOURNAL OF MEDICAL 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

De novo mutations in idiopathic male infertility ‐ a pilot study

(2020) A. Hodžić et al.   Andrology

Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia

(2020) Albert Salas-Huetos et al.   HUMAN GENETICS

Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals

(2020) Arvand Akbari et al.   HUMAN REPRODUCTION

RNA sequencing: new technologies and applications in cancer research

(2020) Mingye Hong et al.   Journal of Hematology & Oncology

Male infertility

(2020) Ashok Agarwal et al.   LANCET

The Neonatal and Adult Human Testis Defined at the Single-Cell Level

(2019) Abhishek Sohni et al.   Cell Reports

Spermatogonial stem cells: updates from specification to clinical relevance

(2019) Swati Sharma et al.   HUMAN REPRODUCTION UPDATE

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

(2019) Moran Gershoni et al.   HUMAN REPRODUCTION

A novel homozygous FBXO43 mutation associated with male infertility and teratozoospermia in a consanguineous Chinese family

(2019) Ying Ma et al.   FERTILITY AND STERILITY

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

(2019) Yang Li et al.   CLINICAL GENETICS

Nuclear envelope dynamics during mammalian spermatogenesis: new insights on male fertility

(2019) Cátia D. Pereira et al.   BIOLOGICAL REVIEWS

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

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

What has single-cell RNA-seq taught us about mammalian spermatogenesis?

(2019) Shinnosuke Suzuki et al.   BIOLOGY OF REPRODUCTION

Identification of a homozygous GFPT2 variant in a family with asthenozoospermia

(2019) Masomeh Askari et al.   GENE

ADCY10 frameshift variant leading to severe recessive asthenozoospermia and segregating with absorptive hypercalciuria

(2019) Arvand Akbari et al.   HUMAN REPRODUCTION

Sequencing of a ‘mouse azoospermia’ gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest

(2019) A Riera-Escamilla et al.   HUMAN REPRODUCTION

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

(2019) Chunyu Liu et al.   JOURNAL OF MEDICAL GENETICS

Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities

(2019) Yoshiro Morimoto et al.   NEUROLOGY

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations

(2019) Zine‐Eddine Kherraf et al.   CLINICAL GENETICS

Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF)

(2019) Wensheng Liu et al.   JOURNAL OF MEDICAL 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

CCDC9 is identified as a novel candidate gene of severe asthenozoospermia

(2019) Yanwei Sha et al.   Systems Biology in Reproductive Medicine

High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting

(2019) Sandra Laurentino et al.   Clinical Epigenetics

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

Loss‐of‐function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype

(2019) Yanwei Sha et al.   CLINICAL GENETICS

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

(2019) Julie Beurois et al.   HUMAN REPRODUCTION

A rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens

(2019) Bin Ge et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

A DNAH17 missense variant causes flagella destabilization and asthenozoospermia

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

Crosstalk between Sertoli and Germ Cells in Male Fertility

(2019) Siwen Wu et al.   TRENDS IN MOLECULAR MEDICINE

Sertoli cell-only phenotype and scRNA-seq define PRAMEF12 as a factor essential for spermatogenesis in mice

(2019) Zhengpin Wang et al.   Nature Communications

Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella

(2019) Chaofeng Tu et al.   Scientific Reports

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

(2019) Patrick Lorès et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Increased DNA methylation in the spermatogenesis‐associated (SPATA) genes correlates with infertility

(2019) Kumar Mohanty Sujit et al.   Andrology

Novel ADGRG2 truncating variants in patients with X‐linked congenital absence of vas deferens

(2019) Adrien Pagin et al.   Andrology

Epigenetic Inactivation of SOX30 Is Associated with Male Infertility and Offers a Therapy Target for Non-obstructive Azoospermia

(2019) Fei Han et al.   Molecular Therapy-Nucleic Acids

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse

(2018) Frederick N. Dong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Leydig cells: formation, function, and regulation†

(2018) Barry R Zirkin et al.   BIOLOGY OF REPRODUCTION

Spermatogonial stem cells†

(2018) Hiroshi Kubota et al.   BIOLOGY OF REPRODUCTION

TSGA10 is a novel candidate gene associated with acephalic spermatozoa

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

Klinefelter syndrome - integrating genetics, neuropsychology and endocrinology

(2018) Claus H Gravholt et al.   ENDOCRINE REVIEWS

Testing for genetic contributions to infertility: potential clinical impact

(2018) Csilla Krausz et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

TDRD6 is associated with oligoasthenoteratozoospermia by sequencing the patient from a consanguineous family

(2018) Yan-Wei Sha et al.   GENE

Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China

(2018) Yan-Wei Sha et al.   GENE

A novel mutation in HAUS7 results in severe oligozoospermia in two brothers

(2018) Lin Li et al.   GENE

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

STX2 is a causative gene for nonobstructive azoospermia

(2018) Shigeru Nakamura et al.   HUMAN MUTATION

A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family

(2018) M Ben Khelifa et al.   HUMAN REPRODUCTION

OUP accepted manuscript

(2018)   HUMAN REPRODUCTION

DMC1mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing

(2018) Wen-Bin He et al.   JOURNAL OF MEDICAL GENETICS

Whole Exome Sequencing

(2018) Angie C. Jelin et al.   OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA

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

(2018) Charles Coutton et al.   Nature Communications

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

(2018) Yasmina Auguste et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Single-cell RNA-seq uncovers dynamic processes and critical regulators in mouse spermatogenesis

(2018) Yao Chen et al.   CELL RESEARCH

Single-Cell RNA Sequencing Analysis Reveals Sequential Cell Fate Transition during Human Spermatogenesis

(2018) Mei Wang et al.   Cell Stem Cell

A Comprehensive Roadmap of Murine Spermatogenesis Defined by Single-Cell RNA-Seq

(2018) Christopher Daniel Green et al.   DEVELOPMENTAL CELL

Homozygous in-frame deletion in CATSPERE in a man producing spermatozoa with loss of CatSper function and compromised fertilizing capacity

(2018) Sean G Brown et al.   HUMAN REPRODUCTION

XRCC2 mutation causes meiotic arrest, azoospermia and infertility

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

Single-cell RNA sequencing of adult mouse testes

(2018) Soeren Lukassen et al.   Scientific Data

The adult human testis transcriptional cell atlas

(2018) Jingtao Guo et al.   CELL RESEARCH

Biallelic mutations in PMFBP1 cause acephalic spermatozoa

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

Genome-wide differential methylation analyses identifies methylation signatures of male infertility

(2018) Kumar Mohanty Sujit et al.   HUMAN REPRODUCTION

Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility

(2018) Weiyu Li et al.   JOURNAL OF HUMAN GENETICS

Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella

(2018) Xiaojin He et al.   JOURNAL OF MEDICAL GENETICS

A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred

(2018) Silvia Regina Correa-Silva et al.   JOURNAL OF NEUROENDOCRINOLOGY

Novel CFAP43 and CFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF)

(2018) Huan Wu et al.   REPRODUCTIVE BIOMEDICINE ONLINE

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family

(2018) Muhammad Jaseem Khan et al.   Scientific Reports

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

(2018) Brian P. Hermann et al.   Cell Reports

A homozygous RNF220 mutation leads to male infertility with small-headed sperm

(2018) Xiaohui Jiang et al.   GENE

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

Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans

(2017) Yue-Qiu Tan et al.   GENETICS IN MEDICINE

A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes

(2017) Moran Gershoni et al.   GENETICS IN MEDICINE

DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

(2017) Justine Bouilly et al.   HUMAN MOLECULAR GENETICS

MAEL promoter hypermethylation is associated with de-repression of LINE-1 in human hypospermatogenesis

(2017) Yu-Sheng Cheng et al.   HUMAN REPRODUCTION

Temporal trends in sperm count: a systematic review and meta-regression analysis

(2017) Hagai Levine et al.   HUMAN REPRODUCTION UPDATE

A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family

(2017) Ozlem Okutman et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation

(2017) Abdulmoein Eid Al-Agha et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutation in TDRD9 causes non-obstructive azoospermia in infertile men

(2017) Maram Arafat et al.   JOURNAL OF MEDICAL GENETICS

Dynamic reorganization of open chromatin underlies diverse transcriptomes during spermatogenesis

(2017) So Maezawa et al.   NUCLEIC ACIDS RESEARCH

Aberrations in sperm DNA methylation patterns are associated with abnormalities in semen parameters of subfertile males

(2017) Mohammed Laqqan et al.   Reproductive Biology

The Catsper channel and its roles in male fertility: a systematic review

(2017) Xiang-hong Sun et al.   Reproductive Biology and Endocrinology

Aberrant DNA methylation patterns of human spermatozoa in current smoker males

(2017) M. Laqqan et al.   REPRODUCTIVE TOXICOLOGY

A brief exposure to cadmium impairs Leydig cell regeneration in the adult rat testis

(2017) Xiaolong Wu et al.   Scientific Reports

A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing

(2017) D. M. Lopategui et al.   Andrology

Pathogenic role of ADGRG2 in CBAVD patients replicated in Chinese population

(2017) B. Yang et al.   Andrology

Impairment of sperm DNA methylation in male infertility: a meta-analytic study

(2017) D. Santi et al.   Andrology

A Short-Term Exposure to Tributyltin Blocks Leydig Cell Regeneration in the Adult Rat Testis

(2017) Xiaolong Wu et al.   Frontiers in Pharmacology

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

Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

(2016) Elma El Khouri 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

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

Abnormal Methylation of Imprinted Genes and Cigarette Smoking

(2016) Hao Dong et al.   Reproductive Sciences

Visualization and analysis of gene expression in tissue sections by spatial transcriptomics

(2016) P. L. Stahl et al.   SCIENCE

Spermatogenesis in humans and its affecting factors

(2016) Filipe Tenorio Lira Neto et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

The effects of diabetes on male fertility and epigenetic regulation during spermatogenesis

(2015) He-Feng Huang et al.   ASIAN JOURNAL OF ANDROLOGY

Poised chromatin and bivalent domains facilitate the mitosis-to-meiosis transition in the male germline

(2015) Ho-Su Sin et al.   BMC BIOLOGY

Design and Analysis of Single-Cell Sequencing Experiments

(2015) Dominic Grün et al.   CELL

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

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

Aberrant sperm DNA methylation predicts male fertility status and embryo quality

(2015) Kenneth I. Aston et al.   FERTILITY AND STERILITY

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia

(2015) Ranjith Ramasamy et al.   FERTILITY AND STERILITY

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP

(2015) Jessica Escoffier et al.   HUMAN MOLECULAR GENETICS

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

(2015) Ozlem Okutman et al.   HUMAN MOLECULAR GENETICS

Promoter targeted bisulfite sequencing reveals DNA methylation profiles associated with low sperm motility in asthenozoospermia

(2015) Ye Du et al.   HUMAN REPRODUCTION

Aberrant DNA methylation patterns of spermatozoa in men with unexplained infertility

(2015) Rocío G. Urdinguio et al.   HUMAN REPRODUCTION

Genetics of primary ovarian insufficiency: new developments and opportunities

(2015) Yingying Qin et al.   HUMAN REPRODUCTION UPDATE

DAZ Family Proteins, Key Players for Germ Cell Development

(2015) Xia-Fei Fu et al.   International Journal of Biological Sciences

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

(2015) Esther Maor-Sagie et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Mutation analysis in patients with total sperm immotility

(2015) Rute Pereira et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

The Technology and Biology of Single-Cell RNA Sequencing

(2015) Aleksandra A. Kolodziejczyk et al.   MOLECULAR CELL

Single-cell chromatin accessibility reveals principles of regulatory variation

(2015) Jason D. Buenrostro et al.   NATURE

MethylC-seq library preparation for base-resolution whole-genome bisulfite sequencing

(2015) Mark A Urich et al.   Nature Protocols

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

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

Disruption of histone methylation in developing sperm impairs offspring health transgenerationally

(2015) K. Siklenka et al.   SCIENCE

Chromatin and Transcription Transitions of Mammalian Adult Germline Stem Cells and Spermatogenesis

(2014) Saher Sue Hammoud et al.   Cell Stem Cell

Integrative DNA methylation and gene expression analysis identifies discoidin domain receptor 1 association with idiopathic nonobstructive azoospermia

(2014) Ranjith Ramasamy et al.   FERTILITY AND STERILITY

STAG3 is a strong candidate gene for male infertility

(2014) Elena Llano et al.   HUMAN MOLECULAR GENETICS

Epigenetic germline mosaicism in infertile men

(2014) Sandra Laurentino et al.   HUMAN MOLECULAR GENETICS

Coverage recommendations for methylation analysis by whole-genome bisulfite sequencing

(2014) Michael J Ziller et al.   NATURE METHODS

Mutant Cohesin in Premature Ovarian Failure

(2014) Sandrine Caburet et al.   NEW ENGLAND JOURNAL OF MEDICINE

Aberrant methylation of the TDMR of the GTF2A1L promoter does not affect fertilisation rates via TESE in patients with hypospermatogenesis

(2013) Kazuhiro Sugimoto et al.   ASIAN JOURNAL OF ANDROLOGY

Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome

(2013) Debbie Montjean et al.   FERTILITY AND STERILITY

The polymorphism (-600 C>A) of CpG methylation site at the promoter region of CYP17A1 and its association of male infertility and testosterone levels

(2013) Jung-Hoon Park et al.   GENE

Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility

(2013) Marcy E. Richardson et al.   HUMAN MOLECULAR GENETICS

Tagmentation-based whole-genome bisulfite sequencing

(2013) Qi Wang et al.   Nature Protocols

DNA methylation in spermatozoa as a prospective marker in andrology

(2013) R. Kläver et al.   Andrology

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

(2013) Maria Gutierrez-Arcelus et al.   eLife

Functions of DNA methylation: islands, start sites, gene bodies and beyond

(2012) Peter A. Jones   NATURE REVIEWS GENETICS

Clinical Characteristics and Reproductive Outcomes in Infertile Men With Testicular Early and Late Maturation Arrest

(2012) Ming-Chun Tsai et al.   UROLOGY

Analysis of the methylation pattern of six gene promoters in sperm of men with abnormal protamination

(2011) Laszlo Nanassy et al.   ASIAN JOURNAL OF ANDROLOGY

Abnormal methylation of the promoter of CREM is broadly associated with male factor infertility and poor sperm quality but is improved in sperm selected by density gradient centrifugation

(2011) Laszlo Nanassy et al.   FERTILITY AND STERILITY

Lack of association between DAZ gene methylation patterns and spermatogenic failure

(2010) Wei Wu et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm†

(2010) Paulo Navarro-Costa et al.   HUMAN REPRODUCTION

The Rhox genes

(2010) James A MacLean et al.   REPRODUCTION

Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men

(2009) Céline Chalas Boissonnas et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MTHFR promoter hypermethylation in testicular biopsies of patients with non-obstructive azoospermia: the role of epigenetics in male infertility

(2009) N. Khazamipour et al.   HUMAN REPRODUCTION

ChIP–seq: advantages and challenges of a maturing technology

(2009) Peter J. Park   NATURE REVIEWS GENETICS

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The management of infertility due to obstructive azoospermia

(2008)   FERTILITY AND STERILITY

Infertility services reported by men in the United States: national survey data

(2008) John E. Anderson et al.   FERTILITY AND STERILITY

Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia

(2008) C.J. Marques et al.   MOLECULAR HUMAN REPRODUCTION