Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency

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

Genetic insights into biological mechanisms governing human ovarian ageing

(2021) Katherine S. Ruth et al.   NATURE

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

(2021) Francisco M. De La Vega et al.   Genome Medicine

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

(2020) Laura Kasak et al.   HUMAN GENETICS

A genomics approach to females with infertility and recurrent pregnancy loss

(2020) Sateesh Maddirevula et al.   HUMAN GENETICS

A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation

(2020) Abdelkader Heddar et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

PIWIL3 Forms a Complex with TDRKH in Mammalian Oocytes

(2020) Minjie Tan et al.   Cells

Premature ovarian ageing following heterozygous loss of Senataxin

(2020) G N Subramanian et al.   MOLECULAR HUMAN REPRODUCTION

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

(2019) Tahir N. Khan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

(2019) Lindsay C. Burrage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

(2019) Hae Ryung Chang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Autoimmune Polyendocrinopathy

(2019) Lara Frommer et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

REC114 Partner ANKRD31 Controls Number, Timing, and Location of Meiotic DNA Breaks

(2019) Michiel Boekhout et al.   MOLECULAR CELL

Mouse ANKRD31 Regulates Spatiotemporal Patterning of Meiotic Recombination Initiation and Ensures Recombination between X and Y Sex Chromosomes

(2019) Frantzeskos Papanikos et al.   MOLECULAR CELL

Mammalian DNA Polymerase Kappa Activity and Specificity

(2019) Hannah R. Stern et al.   MOLECULES

A 21-bp indel within the LLGL1 gene is significantly associated with litter size in goat

(2019) Nuan Liu et al.   ANIMAL BIOTECHNOLOGY

BMPR1A and BMPR1B missense mutations cause primary ovarian insufficiency

(2019) Lucie Renault et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

ClinVar: improvements to accessing data

(2019) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

(2019) W. Scott Watkins et al.   Nature Communications

A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing

(2019) Minying Zhao et al.   Journal of Ovarian Research

Loss of Function of the Nuclear Receptor NR2F2 , Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

(2018) Anu Bashamboo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

OUP accepted manuscript

(2018)   BIOINFORMATICS

The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool

(2018) Steven Flygare et al.   BMC BIOINFORMATICS

Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model

(2018) F. Gurbuz et al.   CLINICAL GENETICS

Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

(2018) Anlu Chen et al.   HUMAN MOLECULAR GENETICS

Signatures of negative selection in the genetic architecture of human complex traits

(2018) Jian Zeng et al.   NATURE GENETICS

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

(2018) Donna M. Werling et al.   NATURE GENETICS

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

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

“Positive Regulation of RNA Metabolic Process” Ontology Group Highly Regulated in Porcine Oocytes Matured In Vitro: A Microarray Approach

(2018) Piotr Celichowski et al.   Biomed Research International

Essential Role of BRCA2 in Ovarian Development and Function

(2018) Ariella Weinberg-Shukron et al.   NEW ENGLAND JOURNAL OF MEDICINE

Baldspot/ELOVL6 is a conserved modifier of disease and the ER stress response

(2018) Rebecca A. S. Palu et al.   PLoS Genetics

Valosin-containing protein is associated with maintenance of meiotic arrest in mouse oocytes†

(2018) Hui Peng et al.   BIOLOGY OF REPRODUCTION

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

Functional characterization of novel NR5A1  variants reveals multiple complex roles in disorders of sex development

(2017) Gorjana Robevska et al.   HUMAN MUTATION

Human-specific subcellular compartmentalization of P-element induced wimpy testis-like (PIWIL) granules during germ cell development and spermatogenesis

(2017) Maria Gomes Fernandes 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

Loss of the deubiquitinase USP36 destabilizes the RNA helicase DHX33 and causes preimplantation lethality in mice

(2017) Julia M. Fraile et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Premature Ovarian Failure in French Canadian Leigh Syndrome

(2017) Chiraz Ghaddhab et al.   JOURNAL OF PEDIATRICS

Mosaic Analysis with Double Markers Reveals Distinct Sequential Functions of Lgl1 in Neural Stem Cells

(2017) Robert Beattie et al.   NEURON

Molecular basis for the recognition of the human AAUAAA polyadenylation signal

(2017) Yadong Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A sister of NANOG regulates genes expressed in pre-implantation human development

(2017) Thomas L. Dunwell et al.   Open Biology

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

(2017) Baptiste Fouquet et al.   eLife

Indexcov: fast coverage quality control for whole-genome sequencing

(2017) Brent S Pedersen et al.   GigaScience

BRAT1mutations present with a spectrum of clinical severity

(2016) Siddharth Srivastava et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Inhibition of CDK7 bypasses spindle assembly checkpoint via premature cyclin B degradation during oocyte meiosis

(2016) HaiYang Wang et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

MultiQC: summarize analysis results for multiple tools and samples in a single report

(2016) Philip Ewels et al.   BIOINFORMATICS

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

(2016) Elena J. Tucker et al.   ENDOCRINE REVIEWS

A biallelic mutation in the homologous recombination repair gene SPIDR is associated with human gonadal dysgenesis

(2016) Pola Smirin-Yosef et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

(2016) Justine Bouilly et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Identification of Maturation-Specific Proteins by Single-Cell Proteomics of Human Oocytes

(2016) Irma Virant-Klun et al.   MOLECULAR & CELLULAR PROTEOMICS

The Seckel syndrome and centrosomal protein Ninein localizes asymmetrically to stem cell centrosomes but is not required for normal development, behavior, or DNA damage response in Drosophila

(2016) Yiming Zheng et al.   MOLECULAR BIOLOGY OF THE CELL

Mouse oocytes differentiate through organelle enrichment from sister cyst germ cells

(2016) L. Lei et al.   SCIENCE

C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility

(2016) Laura Gómez-H et al.   Nature Communications

Identification of Genes Mediating Drosophila Follicle Cell Progenitor Differentiation by Screening for Modifiers of GAL4::UAS Variegation

(2016) Ming-Chia Lee et al.   G3-Genes Genomes Genetics

Tob1 is expressed in developing and adult gonads and is associated with the P-body marker, Dcp2

(2015) Farnaz Shapouri et al.   CELL AND TISSUE RESEARCH

Functions of the MRE11 complex in the development and maintenance of oocytes

(2015) Akiko Inagaki et al.   CHROMOSOMA

FancJ (Brip1) loss-of-function allele results in spermatogonial cell depletion during embryogenesis and altered processing of crossover sites during meiotic prophase I in mice

(2015) Xianfei Sun et al.   CHROMOSOMA

Crystal structure of human nuclear pore complex component NUP43

(2015) Chao Xu et al.   FEBS LETTERS

AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency

(2015) B. Alvaro Mercadal et al.   HUMAN REPRODUCTION

Genetics of primary ovarian insufficiency: new developments and opportunities

(2015) Yingying Qin et al.   HUMAN REPRODUCTION UPDATE

Protein Arginine Methyltransferase 6 Involved in Germ Cell Viability during Spermatogenesis and Down-Regulated by the Androgen Receptor

(2015) Manling Luo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Novel Inactivating Mutation of the FSH Receptor in Two Siblings of Indian Origin With Premature Ovarian Failure

(2015) S. Katari et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

(2015) Saleem Ahmed et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

BOD1L Is Required to Suppress Deleterious Resection of Stressed Replication Forks

(2015) Martin R. Higgs et al.   MOLECULAR CELL

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

Germ cell-specific Atg7 knockout results in primary ovarian insufficiency in female mice

(2015) Z-H Song et al.   Cell Death & Disease

Piwi Proteins and piRNAs in Mammalian Oocytes and Early Embryos

(2015) Elke F. Roovers et al.   Cell Reports

CSB-PGBD3 Mutations Cause Premature Ovarian Failure

(2015) Yingying Qin et al.   PLoS Genetics

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

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

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

(2014) Marc V. Singleton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SAMBLASTER: fast duplicate marking and structural variant read extraction

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

Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform

(2014) A. Norling et al.   HUMAN REPRODUCTION

Bloom syndrome

(2014) Harleen Arora et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency

(2014) Liat de Vries et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Rejuvenation of Meiotic Cohesion in Oocytes during Prophase I Is Required for Chiasma Maintenance and Accurate Chromosome Segregation

(2014) Katherine A. Weng et al.   PLoS Genetics

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

(2013) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrated Structural Analysis of the Human Nuclear Pore Complex Scaffold

(2013) Khanh Huy Bui et al.   CELL

The nuage mediates retrotransposon silencing in mouse primordial ovarian follicles

(2013) A. K. Lim et al.   DEVELOPMENT

Clinical analysis of genome next-generation sequencing data using the Omicia platform

(2013) Emily M Coonrod et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix

(2013) Hao Hu et al.   GENETIC EPIDEMIOLOGY

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

(2013) John R.B. Perry et al.   HUMAN MOLECULAR GENETICS

The fate of granulosa cells following premature oocyte loss and the development of ovarian cancers

(2013) Janet L. Pitman et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Mutations ineIF4ENIF1Are Associated With Primary Ovarian Insufficiency

(2013) Thushiga Kasippillai et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Linking Spermatid Ribonucleic Acid (RNA) Binding Protein and Retrogene Diversity to Reproductive Success

(2013) Karen M. Chapman et al.   MOLECULAR & CELLULAR PROTEOMICS

HELQ promotes RAD51 paralogue-dependent repair to avert germ cell loss and tumorigenesis

(2013) Carrie A. Adelman et al.   NATURE

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Clinical implications of shared genetics and pathogenesis in autoimmune diseases

(2013) Alexandra Zhernakova et al.   Nature Reviews Endocrinology

Rad54 is required for the normal development of male and female germ cells and contributes to the maintainance of their genome integrity after genotoxic stress

(2013) S Messiaen et al.   Cell Death & Disease

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

(2012) Sonja A. de Munnik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Embryonic poly(A)-binding protein (EPAB) is required for oocyte maturation and female fertility in mice

(2012) Ozlem Guzeloglu-Kayisli et al.   BIOCHEMICAL JOURNAL

POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria

(2012) Mir Reza Bekheirnia et al.   GENE

Detecting false-positive signals in exome sequencing

(2012) Karin V. Fuentes Fajardo et al.   HUMAN MUTATION

Differential display identifies overexpression of the USP36 gene, encoding a deubiquitinating enzyme, in ovarian cancer

(2012) Jianduan Li et al.   International Journal of Medical Sciences

Ten Novel Mutations in theNR5A1Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals

(2012) N. Camats et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

(2012) Lisette Stolk et al.   NATURE GENETICS

A Genome-Wide Study Replicates Linkage of 3p22-24 to Extreme Longevity in Humans and Identifies Possible Additional Loci

(2012) Richard A. Kerber et al.   PLoS One

Investigating the role of X chromosome breakpoints in premature ovarian failure

(2012) Simona Baronchelli et al.   Molecular Cytogenetics

XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription

(2011) David Zangen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

Involvement of Mouse Nucleoplasmin 2 in the Decondensation of Sperm Chromatin after Fertilization1

(2011) Azusa Inoue et al.   BIOLOGY OF REPRODUCTION

Impaired ovarian development and reduced fertility in female mice deficient in Skp2

(2011) Abbas Fotovati et al.   JOURNAL OF ANATOMY

Fancf-deficient mice are prone to develop ovarian tumours

(2011) Sietske T Bakker et al.   JOURNAL OF PATHOLOGY

Proliferating Cell Nuclear Antigen (PCNA) Regulates Primordial Follicle Assembly by Promoting Apoptosis of Oocytes in Fetal and Neonatal Mouse Ovaries

(2011) Bo Xu et al.   PLoS One

Genomic Instability, Defective Spermatogenesis, Immunodeficiency, and Cancer in a Mouse Model of the RIDDLE Syndrome

(2011) Toshiyuki Bohgaki et al.   PLoS Genetics

Hnrnpk, a Protein Differentially Expressed in Immature Rat Ovarian Development, Is Required for Normal Primordial Follicle Assembly and Development

(2010) Ningling Wang et al.   ENDOCRINOLOGY

FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States

(2010) Feras M Hantash et al.   GENETICS IN MEDICINE

Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study

(2010) Anna Murray et al.   HUMAN MOLECULAR GENETICS

High Prevalence of Primary Ovarian Insufficiency in Girls and Young Women with Nijmegen Breakage Syndrome: Evidence from a Longitudinal Study

(2010) Krystyna H. Chrzanowska et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Loss of Maternal ATRX Results in Centromere Instability and Aneuploidy in the Mammalian Oocyte and Pre-Implantation Embryo

(2010) Claudia Baumann et al.   PLoS Genetics

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Array Comparative Genomic Hybridization Profiling Analysis Reveals Deoxyribonucleic Acid Copy Number Variations Associated with Premature Ovarian Failure

(2009) Azzedine Aboura et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Battle and Ballet: Molecular Interactions between the Sexes in Drosophila

(2009) M. F. Wolfner   JOURNAL OF HEREDITY

Familial Aggregation of Survival and Late Female Reproduction

(2009) K. R. Smith et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Mutations inNR5A1Associated with Ovarian Insufficiency

(2009) Diana Lourenço et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inhibition of oocyte growth factors in vivo modulates ovarian folliculogenesis in neonatal and immature mice

(2009) Samu Myllymaa et al.   REPRODUCTION

Loss of the Protein NUPR1 (p8) Leads to Delayed LHB Expression, Delayed Ovarian Maturation, and Testicular Development of a Sertoli-Cell-Only Syndrome-Like Phenotype in Mice1

(2008) Christina M. Million Passe et al.   BIOLOGY OF REPRODUCTION

The mutation spectrum in RECQL4 diseases

(2008) H Annika Siitonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Primary ovarian insufficiency: a more accurate term for premature ovarian failure

(2007) Corrine K. Welt   CLINICAL ENDOCRINOLOGY

Normalization of serum luteinizing hormone levels in women with 46,XX spontaneous primary ovarian insufficiency

(2007) Vaishali B. Popat et al.   FERTILITY AND STERILITY