Origins and mechanisms leading to aneuploidy in human eggs

Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis

(2021) Brynn Levy et al.   PRENATAL DIAGNOSIS

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

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

Improving the maturation rate of human oocytes collected ex vivo during the cryopreservation of ovarian tissue

(2020) Dmitry Nikiforov et al.   JOURNAL OF ASSISTED REPRODUCTION AND 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

Genome-wide analysis reveals a switch in the translational program upon oocyte meiotic resumption

(2020) Xuan G Luong et al.   NUCLEIC ACIDS RESEARCH

Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos

(2020) Laura Girardi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mathematical modeling of human oocyte aneuploidy

(2020) Katarzyna M. Tyc et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Non-invasive prenatal testing in the context of IVF and PGT-A

(2020) Dana Kimelman et al.   BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY

Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk

(2020) Katarzyna M Tyc et al.   HUMAN REPRODUCTION

Identification novel mutations in TUBB8 in female infertility and a novel phenotype of large polar body in oocytes with TUBB8 mutations

(2020) Lin Zhao et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Insights into variation in meiosis from 31,228 human sperm genomes

(2020) Avery Davis Bell et al.   NATURE

Failure to recombine is a common feature of human oogenesis

(2020) Terry Hassold et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2019) Zhihua Zhang et al.   CLINICAL GENETICS

The proteostasis network and its decline in ageing

(2019) Mark S. Hipp et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

Homozygous missense mutation Arg207Cys in the WEE2 gene causes female infertility and fertilization failure

(2019) Xiaoyu Yang et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

New biallelic mutations in WEE2: expanding the spectrum of mutations that cause fertilization failure or poor fertilization

(2019) Jing Dai et al.   FERTILITY AND STERILITY

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

(2019) Shuai Zhao et al.   FERTILITY AND STERILITY

Abnormal cleavage and developmental arrest of human preimplantation embryos in vitro

(2019) Abeo McCollin et al.   European Journal of Medical Genetics

Mammalian kinetochores count attached microtubules in a sensitive and switch-like manner

(2019) Jonathan Kuhn et al.   JOURNAL OF CELL BIOLOGY

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

(2019) Jennifer R. Gruhn et al.   SCIENCE

Meiotic Kinetochores Fragment into Multiple Lobes upon Cohesin Loss in Aging Eggs

(2019) Agata P. Zielinska et al.   CURRENT BIOLOGY

Aneuploidy and recombination in the human preimplantation embryo. Copy number variation analysis and genome-wide polymorphism genotyping

(2019) Michalis Konstantinidis et al.   REPRODUCTIVE BIOMEDICINE ONLINE

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

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

Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos

(2018) Rajiv C McCoy et al.   HUMAN MOLECULAR GENETICS

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

(2018) Lingli Huang et al.   HUMAN REPRODUCTION

Acquisition of oocyte competence to develop as an embryo: integrated nuclear and cytoplasmic events

(2018) Marco Conti et al.   HUMAN REPRODUCTION UPDATE

Maternal common variant rs2305957 spanning PLK4 is associated with blastocyst formation and early recurrent miscarriage

(2017) Qian Zhang et al.   FERTILITY AND STERILITY

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

Pathways of cellular proteostasis in aging and disease

(2017) Courtney L. Klaips et al.   JOURNAL OF CELL BIOLOGY

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

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

Mechanisms of Aneuploidy in Human Eggs

(2017) Alexandre Webster et al.   TRENDS IN CELL BIOLOGY

Loss of Centromere Cohesion in Aneuploid Human Oocytes Correlates with Decreased Kinetochore Localization of the Sac Proteins Bub1 and Bubr1

(2017) Julie Lagirand-Cantaloube et al.   Scientific Reports

Tripolar mitosis and partitioning of the genome arrests human preimplantation development in vitro

(2017) Christian S. Ottolini et al.   Scientific Reports

Chromosome Cohesion Established by Rec8-Cohesin in Fetal Oocytes Is Maintained without Detectable Turnover in Oocytes Arrested for Months in Mice

(2016) Sabrina Burkhardt et al.   CURRENT BIOLOGY

Long-Term Retention of CENP-A Nucleosomes in Mammalian Oocytes Underpins Transgenerational Inheritance of Centromere Identity

(2016) Evan M. Smoak et al.   CURRENT BIOLOGY

Effects of maternal age on euploidy rates in a large cohort of embryos analyzed with 24-chromosome single-nucleotide polymorphism–based preimplantation genetic screening

(2016) Zachary P. Demko et al.   FERTILITY AND STERILITY

Embryonic aneuploidy does not differ among genetic ancestry according to continental origin as determined by ancestry informative markers

(2016) Jason M. Franasiak et al.   HUMAN REPRODUCTION

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

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

Direct Unequal Cleavages: Embryo Developmental Competence, Genetic Constitution and Clinical Outcome

(2016) Qiansheng Zhan et al.   PLoS One

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

Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos

(2015) R. C. McCoy et al.   SCIENCE

Error-prone chromosome-mediated spindle assembly favors chromosome segregation defects in human oocytes

(2015) Z. Holubcova et al.   SCIENCE

Meiosis and Maternal Aging: Insights from Aneuploid Oocytes and Trisomy Births

(2015) Mary Herbert et al.   Cold Spring Harbor Perspectives in Biology

Bivalent separation into univalents precedes age-related meiosis I errors in oocytes

(2015) Yogo Sakakibara et al.   Nature Communications

Evidence of Selection against Complex Mitotic-Origin Aneuploidy during Preimplantation Development

(2015) Rajiv C. McCoy et al.   PLoS Genetics

Sister kinetochore splitting and precocious disintegration of bivalents could explain the maternal age effect

(2015) Agata P Zielinska et al.   eLife

Unique geometry of sister kinetochores in human oocytes during meiosis I may explain maternal age-associated increases in chromosomal abnormalities

(2015) Jessica Patel et al.   Biology Open

Aneuploidy across individual chromosomes at the embryonic level in trophectoderm biopsies: changes with patient age and chromosome structure

(2014) Jason M. Franasiak et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Shugoshins: Tension-Sensitive Pericentromeric Adaptors Safeguarding Chromosome Segregation

(2014) Adele L. Marston   MOLECULAR AND CELLULAR BIOLOGY

Age-Related Decrease of Meiotic Cohesins in Human Oocytes

(2014) Makiko Tsutsumi et al.   PLoS One

Non-canonical function of spindle assembly checkpoint proteins after APC activation reduces aneuploidy in mouse oocytes

(2014) Simon I.R. Lane et al.   Nature Communications

Selective Disruption of Aurora C Kinase Reveals Distinct Functions from Aurora B Kinase during Meiosis in Mouse Oocytes

(2014) Ahmed Z. Balboula et al.   PLoS Genetics

Genome Analyses of Single Human Oocytes

(2013) Yu Hou et al.   CELL

Premature dyad separation in meiosis II is the major segregation error with maternal age in mouse oocytes

(2013) Y. Yun et al.   DEVELOPMENT

The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening

(2013) Jason M. Franasiak et al.   FERTILITY AND STERILITY

Chromosome cohesion decreases in human eggs with advanced maternal age

(2012) Francesca E. Duncan et al.   AGING CELL

Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm

(2012) Jianbin Wang et al.   CELL

Lack of response to unaligned chromosomes in mammalian female gametes

(2012) Jaroslava Sebestova et al.   CELL CYCLE

Spindle assembly checkpoint signalling is uncoupled from chromosomal position in mouse oocytes

(2012) L. Gui et al.   DEVELOPMENT

Human aneuploidy: mechanisms and new insights into an age-old problem

(2012) So I. Nagaoka et al.   NATURE REVIEWS GENETICS

Geometry and force behind kinetochore orientation: lessons from meiosis

(2012) Yoshinori Watanabe   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth

(2012) Uma M. Reddy et al.   NEW ENGLAND JOURNAL OF MEDICINE

Error-prone mammalian female meiosis from silencing the spindle assembly checkpoint without normal interkinetochore tension

(2012) A. Kolano et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing

(2012) S. Lu et al.   SCIENCE

Oocyte-Specific Differences in Cell-Cycle Control Create an Innate Susceptibility to Meiotic Errors

(2011) So Iha Nagaoka et al.   CURRENT BIOLOGY

Five chromosome segregation in polar bodies and the corresponding oocyte

(2011) M. Cristina Magli et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Evidence that Weakened Centromere Cohesion Is a Leading Cause of Age-Related Aneuploidy in Oocytes

(2010) Teresa Chiang et al.   CURRENT BIOLOGY

Age-Related Meiotic Segregation Errors in Mammalian Oocytes Are Preceded by Depletion of Cohesin and Sgo2

(2010) Lisa Martine Lister et al.   CURRENT BIOLOGY

Rec8-containing cohesin maintains bivalents without turnover during the growing phase of mouse oocytes

(2010) K. Tachibana-Konwalski et al.   GENES & DEVELOPMENT

Dynamics of cohesin proteins REC8, STAG3, SMC1  and SMC3 are consistent with a role in sister chromatid cohesion during meiosis in human oocytes

(2010) R. Garcia-Cruz et al.   HUMAN REPRODUCTION

Gene expression profiles of single human mature oocytes in relation to age

(2010) M.L. Grøndahl et al.   HUMAN REPRODUCTION

Aurora-C Kinase Deficiency Causes Cytokinesis Failure in Meiosis I and Production of Large Polyploid Oocytes in Mice

(2010) Kuo-Tai Yang et al.   MOLECULAR BIOLOGY OF THE CELL

Defective cohesin is associated with age-dependent misaligned chromosomes in oocytes

(2010) Lin Liu et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Sister chromatid tension and the spindle assembly checkpoint

(2009) Luigi Nezi et al.   CURRENT OPINION IN CELL BIOLOGY

Role of cleavage by separase of the Rec8 kleisin subunit of cohesin during mammalian meiosis I

(2009) N. R. Kudo et al.   JOURNAL OF CELL SCIENCE

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE