Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data

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

(2020) Chaofeng Tu et al.   CLINICAL GENETICS

Oocyte maturation arrest produced by TUBB8 mutations: impact of genetic disorders in infertility treatment

(2020) María C. Lanuza-López et al.   GYNECOLOGICAL ENDOCRINOLOGY

The genetic architecture of morphological abnormalities of the sperm tail

(2020) Aminata Touré et al.   HUMAN GENETICS

Genetics of the congenital absence of the vas deferens

(2020) Eric Bieth et al.   HUMAN GENETICS

Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest

(2020) Zhenxing Liu 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

Bi-allelic Missense Pathogenic Variants in TRIP13Cause Female Infertility Characterized by Oocyte Maturation Arrest

(2020) Zhihua Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A genome-wide association study of polycystic ovary syndrome identified from electronic health records

(2020) Yanfei Zhang et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family

(2020) Yao Xu et al.   CLINICAL GENETICS

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

(2020) Henriett Butz et al.   HUMAN GENETICS

A genomics approach to females with infertility and recurrent pregnancy loss

(2020) Sateesh Maddirevula et al.   HUMAN GENETICS

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

(2020) Biagio Cangiano et al.   HUMAN GENETICS

Phenome‐Wide Analysis of Short‐ and Long‐Run Disease Incidence Following Recurrent Pregnancy Loss Using Data From a 39‐Year Period

(2020) David Westergaard et al.   Journal of the American Heart Association

Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect

(2020) Özlem Okutman et al.   Genes

A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS)

(2020) Qianhua Xu et al.   Molecular Genetics & Genomic Medicine

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

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines

(2020) Kristjan E. Kaseniit et al.   GENETICS IN MEDICINE

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

(2020) Csilla Krausz et al.   GENETICS IN MEDICINE

Novel mutations in WEE2 : expanding the spectrum of mutations responsible for human fertilization failure

(2019) Zhihua Zhang et al.   CLINICAL GENETICS

The Fanconi Anemia Pathway and Fertility

(2019) Vanessa Tsui et al.   TRENDS IN GENETICS

Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest

(2019) Jian Mu et al.   JOURNAL OF MEDICAL GENETICS

Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility

(2019) Ling Wu et al.   JOURNAL OF HUMAN GENETICS

Secondary findings: How did we get here, and where are we going?

(2019) Kelly E. Ormond et al.   Journal of Genetic Counseling

Novel mutation in the ZP1 gene and clinical implications

(2019) Ping Yuan et al.   JOURNAL OF ASSISTED REPRODUCTION AND 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

Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation

(2019) Zhou Zhou et al.   HUMAN GENETICS

Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen

(2019) Kyle A. Beauchamp et al.   GENETICS IN MEDICINE

Novel WEE2 gene variants identified in patients with fertilization failure and female infertility

(2019) Shuai Zhao et al.   FERTILITY AND STERILITY

Genetics of human female infertility

(2019) Svetlana A Yatsenko et al.   BIOLOGY OF 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

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

(2019) Angad Jolly et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel FSHR mutations in Han Chinese women with sporadic premature ovarian insufficiency

(2019) Hongli Liu et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality

(2019) Ruebena Dawes et al.   npj Genomic Medicine

Compound heterozygous ZP1 mutations cause empty follicle syndrome in infertile sisters

(2019) Ling Sun et al.   HUMAN MUTATION

Potential genetic causes of miscarriage in euploid pregnancies: a systematic review

(2019) Emily Colley et al.   HUMAN REPRODUCTION UPDATE

Analysis of polygenic risk score usage and performance in diverse human populations

(2019) L. Duncan et al.   Nature Communications

Molecular basis of egg coat cross-linking sheds light on ZP1-associated female infertility

(2019) Kaoru Nishimura et al.   Nature Communications

A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency

(2019) Jing Zhe et al.   Journal of Ovarian Research

Pharmacogenetics of FSH Action in the Female

(2019) Alessandro Conforti et al.   Frontiers in Endocrinology

The association between maternal occupation and down syndrome: A report from the national Down syndrome project

(2019) Colleen Keen et al.   INTERNATIONAL JOURNAL OF HYGIENE AND ENVIRONMENTAL HEALTH

Opportunities, resources, and techniques for implementing genomics in clinical care

(2019) Teri A Manolio et al.   LANCET

Chromosome errors in human eggs shape natural fertility over reproductive life span

(2019) Jennifer R. Gruhn et al.   SCIENCE

Sequence analysis of 37 candidate genes for male infertility: Challenges in variant assessment and validating genes

(2019) Thais Fenz Araujo et al.   Andrology

Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants

(2019) Hila Fridman et al.   GENETICS IN MEDICINE

The Impact of Chemotherapy on the Ovaries: Molecular Aspects and the Prevention of Ovarian Damage

(2019) Charlotte Sonigo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest

(2019) Wenjing Wang et al.   JOURNAL OF MEDICAL GENETICS

International perspectives on the implementation of reproductive carrier screening

(2019) Martin B. Delatycki et al.   PRENATAL DIAGNOSIS

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes

(2019) Antonio Capalbo et al.   PLoS Genetics

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

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

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

(2019) M S Oud et al.   HUMAN REPRODUCTION

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases

(2019) Elias L. Salfati et al.   Genome Medicine

A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21

(2019) Jonathan M. Chernus et al.   PLoS Genetics

Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility

(2018) Qing Sang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

(2018) Sumit Punj et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Case study of a patient with cryptozoospermia associated with a recessive TEX15 nonsense mutation

(2018) Yan-Wei Sha et al.   ASIAN JOURNAL OF ANDROLOGY

A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review

(2018) Yanwei Sha et al.   BMC Medical Genetics

Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification

(2018) Gregory J. Hogan et al.   CLINICAL CHEMISTRY

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice

(2018) Marie Christou‐Kent et al.   EMBO Molecular Medicine

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

(2018) JianHua Qian et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency

(2018) Monica M. França et al.   European Journal of Medical Genetics

Testing for genetic contributions to infertility: potential clinical impact

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

Male infertility: a biomarker of individual and familial cancer risk

(2018) Brent M. Hanson et al.   FERTILITY AND STERILITY

Ethical quandaries around expanded carrier screening in third-party reproduction

(2018) Heidi Mertes et al.   FERTILITY AND STERILITY

Point-of-care whole-exome sequencing of idiopathic male infertility

(2018) Khalid A Fakhro et al.   GENETICS IN MEDICINE

Secondary findings from next-generation sequencing: what does actionable in childhood really mean?

(2018) Julie Richer et al.   GENETICS IN MEDICINE

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

A homozygous FANCM frameshift pathogenic variant causes male infertility

(2018) Hao Yin et al.   GENETICS IN MEDICINE

ZP2 pathogenic variants cause in vitro fertilization failure and female infertility

(2018) Can Dai et al.   GENETICS IN MEDICINE

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

(2018) M Ben Khelifa et al.   HUMAN REPRODUCTION

Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest

(2018) Lingli Huang et al.   HUMAN REPRODUCTION

Maternal variants inNLRPand other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

(2018) Matthias Begemann et al.   JOURNAL OF MEDICAL GENETICS

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

A novel homozygous mutation of bone morphogenetic protein 15 identified in a consanguineous marriage family with primary ovarian insufficiency

(2018) Wei Zhang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest

(2018) Xueqian Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Loss of PUMA protects the ovarian reserve during DNA-damaging chemotherapy and preserves fertility

(2018) Quynh-Nhu Nguyen et al.   Cell Death & Disease

Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency

(2018) Beili Chen et al.   Journal of Ovarian Research

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

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

XRCC2 mutation causes meiotic arrest, azoospermia and infertility

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

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles

(2018) Ngoc Minh Phuong Nguyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic recessive loss-of-function mutations in FIGLA cause premature ovarian insufficiency with short stature

(2018) Ping Yuan et al.   CLINICAL GENETICS

The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility

(2018) Biaobang Chen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

(2018) M. Ragan Hart et al.   GENETICS IN MEDICINE

Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency

(2018) Xiang Yang et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Drug repurposing: progress, challenges and recommendations

(2018) Sudeep Pushpakom et al.   NATURE REVIEWS DRUG DISCOVERY

Novel inactivating mutations in the FSH receptor cause premature ovarian insufficiency with resistant ovary syndrome

(2018) Wen-Bin He et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

(2018) Felix Day et al.   PLoS Genetics

Complex genetics of female fertility

(2018) Rahul Gajbhiye et al.   npj Genomic Medicine

Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

(2017) Lukas Soellner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel zona pellucida gene variants identified in patients with oocyte anomalies

(2017) Ping Yang et al.   FERTILITY AND STERILITY

New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family

(2017) Nouha Bouali et al.   FERTILITY AND STERILITY

A novel homozygous mutation in the FSHR gene is causative for primary ovarian insufficiency

(2017) Hongli Liu et al.   FERTILITY AND STERILITY

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

(2017) Alison Dalton Archibald 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

Two Novel TEX15 Mutations in a Family with Nonobstructive Azoospermia

(2017) Roberto Colombo et al.   GYNECOLOGIC AND OBSTETRIC INVESTIGATION

Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility

(2017) Wenqiang Liu et al.   HUMAN GENETICS

Mutations in MSH5 in primary ovarian insufficiency

(2017) Ting Guo et al.   HUMAN MOLECULAR GENETICS

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

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

ESHRE PGD Consortium data collection XIV–XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013†

(2017) M De Rycke et al.   HUMAN REPRODUCTION

A closer look at expanded carrier screening from a PGD perspective

(2017) Carolina Vaz-de-Macedo et al.   HUMAN REPRODUCTION

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

(2017) Liliana Catherine Patiño et al.   HUMAN REPRODUCTION

Human female meiosis revised: new insights into the mechanisms of chromosome segregation and aneuploidies from advanced genomics and time-lapse imaging

(2017) Antonio Capalbo et al.   HUMAN REPRODUCTION UPDATE

Identification and characterization of Aurora kinase B and C variants associated with maternal aneuploidy

(2017) Alexandra L. Nguyen et al.   MOLECULAR HUMAN REPRODUCTION

DNA sequencing at 40: past, present and future

(2017) Jay Shendure et al.   NATURE

Finding Middle Ground in Constructing a Clinically Useful Expanded Carrier Screening Panel

(2017) Blair Stevens et al.   OBSTETRICS AND GYNECOLOGY

Expanded carrier screening for monogenic disorders: where are we now?

(2017) Davit Chokoshvili et al.   PRENATAL DIAGNOSIS

Mutation analysis of the TUBB8 gene in nine infertile women with oocyte maturation arrest

(2017) Lingli Huang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family

(2017) Monica M. França et al.   Sexual Development

Oxidative stress-induced apoptosis in granulosa cells involves JNK, p53 and Puma

(2017) Hongyan Yang et al.   Oncotarget

Prioritising the application of genomic medicine

(2017) Brett Doble et al.   npj Genomic Medicine

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

(2016) Yao Xu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations ofSGO2andCLDN14collectively cause coincidental Perrault syndrome

(2016) R. Faridi et al.   CLINICAL GENETICS

Genetic abnormalities leading to qualitative defects of sperm morphology or function

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

Responsible implementation of expanded carrier screening

(2016) Lidewij Henneman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children

(2016) Ari J. Silver et al.   Genetic Testing and Molecular Biomarkers

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Novel mutations and structural deletions in TUBB8 : expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development

(2016) Biaobang Chen et al.   HUMAN REPRODUCTION

Prenatal Carrier Screening

(2016) Imran S. Haque et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mutations inTUBB8cause a multiplicity of phenotypes in human oocytes and early embryos

(2016) Ruizhi Feng et al.   JOURNAL OF MEDICAL GENETICS

Measuring the health-related Sustainable Development Goals in 188 countries: a baseline analysis from the Global Burden of Disease Study 2015

(2016) Stephen S Lim et al.   LANCET

Mutations in TUBB8 and Human Oocyte Meiotic Arrest

(2016) Ruizhi Feng et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia

(2016) Qian Ma et al.   Reproductive Sciences

Human oocyte developmental potential is predicted by mechanical properties within hours after fertilization

(2016) Livia Z. Yanez et al.   Nature Communications

Comparative study of single-nucleotide polymorphism array and next generation sequencing based strategies on triploid identification in preimplantation genetic diagnosis and screen

(2016) Jiawei Xu et al.   Oncotarget

Polycystic ovary syndrome

(2016) Ricardo Azziz et al.   Nature Reviews Disease Primers

Carrier screening by next-generation sequencing: health benefits and cost effectiveness

(2016) Mohammad Azimi et al.   Molecular Genetics & Genomic Medicine

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Screen for Genomic Disorders of Infertility Identifies MAST2 Duplications Associated with Nonobstructive Azoospermia in Humans1

(2015) Ni Huang et al.   BIOLOGY OF REPRODUCTION

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

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

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

(2015) Jonathan S. Berg et al.   GENETICS IN MEDICINE

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

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

(2015) Ozlem Okutman et al.   HUMAN MOLECULAR GENETICS

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

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

Building the foundation for genomics in precision medicine

(2015) Samuel J. Aronson et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates

(2015) Christian S Ottolini et al.   NATURE GENETICS

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

(2015) Felix R Day et al.   NATURE GENETICS

Molecular insights into the aetiology of female reproductive ageing

(2015) John R. B. Perry et al.   Nature Reviews Endocrinology

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

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

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Expanded Carrier Screening in Reproductive Medicine—Points to Consider

(2015) Janice G. Edwards et al.   OBSTETRICS AND GYNECOLOGY

Changing trends in carrier screening for genetic disease in the United States

(2015) Shivani B. Nazareth et al.   PRENATAL DIAGNOSIS

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

(2015) Louise E. Docherty et al.   Nature Communications

Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome

(2015) Felix R. Day et al.   Nature Communications

Excess of Rare Variants in Genes that are Key Epigenetic Regulators of Spermatogenesis in the Patients with Non-Obstructive Azoospermia

(2015) Zesong Li et al.   Scientific Reports

Secondary findings and carrier test frequencies in a large multiethnic sample

(2015) Tomasz Gambin et al.   Genome Medicine

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability

(2014) Michelle A. Wood-Trageser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DMRT1 mutations are rarely associated with male infertility

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

ESHRE Task Force on Ethics and Law22: Preimplantation Genetic Diagnosis

(2014) G. De Wert et al.   HUMAN REPRODUCTION

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

(2014) Saleh AlAsiri et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in HFM1 in Recessive Primary Ovarian Insufficiency

(2014) Jian Wang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutant Cohesin in Premature Ovarian Failure

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

Mutant ZP1 in Familial Infertility

(2014) Hua-Lin Huang et al.   NEW ENGLAND JOURNAL OF MEDICINE

PUMA regulates germ cell loss and primordial follicle endowment in mice

(2014) Michelle Myers et al.   REPRODUCTION

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

Genome Analyses of Single Human Oocytes

(2013) Yu Hou et al.   CELL

The number of babies born globally after treatment with the assisted reproductive technologies (ART)

(2013) G.D. Adamson et al.   FERTILITY AND STERILITY

The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project

(2013) Jessica Ezzell Hunter et al.   GENETICS IN MEDICINE

Implementing genomic medicine in the clinic: the future is here

(2013) Teri A. Manolio et al.   GENETICS IN MEDICINE

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Incidental Findings from Clinical Genome-Wide Sequencing: A Review

(2013) Z. Lohn et al.   Journal of Genetic Counseling

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Impairment of BRCA1-Related DNA Double-Strand Break Repair Leads to Ovarian Aging in Mice and Humans

(2013) S. Titus et al.   Science Translational Medicine

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

Genome-wide Association Study Identifies Candidate Genes for Male Fertility Traits in Humans

(2012) Gülüm Kosova et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of the polycystic ovary syndrome

(2012) Gülüm Kosova et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome

(2012) Yongyong Shi et al.   NATURE GENETICS

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

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

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3

(2010) Zi-Jiang Chen et al.   NATURE GENETICS

Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages

(2010) K. Stouffs et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure

(2009) Binbin Wang et al.   CLINICAL ENDOCRINOLOGY

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

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

Transcription Factor FIGLA is Mutated in Patients with Premature Ovarian Failure

(2008) Han Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association ofUSP26haplotypes in men in Taiwan, China with severe spermatogenic defect

(2008) I-Wen Lee et al.   ASIAN JOURNAL OF ANDROLOGY

A Subcortical Maternal Complex Essential for Preimplantation Mouse Embryogenesis

(2008) Lei Li et al.   DEVELOPMENTAL CELL

Expression Analysis of the NLRP Gene Family Suggests a Role in Human Preimplantation Development

(2008) Pu Zhang et al.   PLoS One

ZIP4H (TEX11) Deficiency in the Mouse Impairs Meiotic Double Strand Break Repair and the Regulation of Crossing Over

(2008) Carrie A. Adelman et al.   PLoS Genetics