Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

(2021) Kris Van Den Bogaert et al.   GENETICS IN MEDICINE

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

Sperm DNA damage causes genomic instability in early embryonic development

(2020) Sjors Middelkamp et al.   Science Advances

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

(2020) Avery Davis Bell et al.   NATURE

Developmental potential of aneuploid human embryos cultured beyond implantation

(2020) Marta N. Shahbazi et al.   Nature Communications

THE INCIDENCE AND PARENTAL ORIGIN OF WHOLE AND SEGMENTAL ANEUPLOIDIES IN HUMAN IMPLANTATION EMBRYOS

(2020) Jing Wang et al.   FERTILITY AND STERILITY

Single-cell sequencing of primate preimplantation embryos reveals chromosome elimination via cellular fragmentation and blastomere exclusion

(2019) Brittany L. Daughtry et al.   GENOME RESEARCH

Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing

(2019) Heleen Masset et al.   HUMAN REPRODUCTION

Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients: a multicenter randomized clinical trial

(2019) Santiago Munné et al.   FERTILITY AND STERILITY

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

(2019) Jennifer R. Gruhn et al.   SCIENCE

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

(2019) Karuna R.M. van der Meij et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Frequencies of chromosome-specific mosaicisms in trophoectoderm biopsies detected by next-generation sequencing

(2018) Gary Nakhuda et al.   FERTILITY AND STERILITY

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

Chromosomal mosaicism in human blastocysts: the ultimate challenge of preimplantation genetic testing?

(2018) M Popovic et al.   HUMAN REPRODUCTION

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles

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

The cytogenetic constitution of human blastocysts: insights from comprehensive chromosome screening strategies

(2018) Elpida Fragouli et al.   HUMAN REPRODUCTION UPDATE

Incidence and origin of meiotic whole and segmental chromosomal aneuploidies detected by karyomapping

(2018) David Kubicek et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Embryonic mosaicism: defining prevalence in terms of clinical relevance

(2017) T. Stankewicz et al.   FERTILITY AND STERILITY

The incidence and origin of segmental aneuploidy in human oocytes and preimplantation embryos

(2017) D Babariya et al.   HUMAN REPRODUCTION

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos

(2017) Eftychia Dimitriadou et al.   HUMAN REPRODUCTION

Are blastocyst aneuploidy rates different between fertile and infertile populations?

(2017) Jonathan D. Kort et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Embryos with morphokinetic abnormalities may develop into euploid blastocysts

(2017) C. Lagalla et al.   REPRODUCTIVE BIOMEDICINE ONLINE

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

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

Higher rates of aneuploidy in blastocysts and higher risk of no embryo transfer in recurrent pregnancy loss patients with diminished ovarian reserve undergoing in vitro fertilization

(2016) Lora K. Shahine et al.   FERTILITY AND STERILITY

Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy

(2016) Aspasia Destouni et al.   GENOME RESEARCH

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

(2016) Qiansheng Zhan et al.   PLoS One

Detection and quantitation of chromosomal mosaicism in human blastocysts using copy number variation sequencing

(2016) Tida Ruttanajit et al.   PRENATAL DIAGNOSIS

Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells

(2015) Masoud Zamani Esteki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Chromosomal instability in mammalian pre-implantation embryos: potential causes, detection methods, and clinical consequences

(2015) Brittany L. Daughtry et al.   CELL AND TISSUE RESEARCH

Increased blastomere number in cleavage-stage embryos is associated with higher aneuploidy

(2015) Lindsay L. Kroener et al.   FERTILITY AND STERILITY

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

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

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

Prevalence, consequence, and significance of reverse cleavage by human embryos viewed with the use of the Embryoscope time-lapse video system

(2014) Yanhe Liu et al.   FERTILITY AND STERILITY

Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro

(2014) Senthilkumar A. Natesan et al.   GENETICS IN MEDICINE

The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans

(2014) Tyl H. Taylor et al.   HUMAN REPRODUCTION UPDATE

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

The origin and impact of embryonic aneuploidy

(2013) Elpida Fragouli et al.   HUMAN GENETICS

Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing

(2013) Zhigang Xue et al.   NATURE

Single-cell RNA-Seq profiling of human preimplantation embryos and embryonic stem cells

(2013) Liying Yan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos

(2012) A. Mertzanidou et al.   HUMAN REPRODUCTION

The Human Cleavage Stage Embryo Is a Cradle of Chromosomal Rearrangements

(2011) T. Voet et al.   CYTOGENETIC AND GENOME RESEARCH

Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos

(2011) Thierry Voet et al.   HUMAN MUTATION

Chromosomal mosaicism in human preimplantation embryos: a systematic review

(2011) Jannie van Echten-Arends et al.   HUMAN REPRODUCTION UPDATE

Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial

(2009) Sophie Debrock et al.   FERTILITY AND STERILITY

Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes

(2009) A. H. Handyside et al.   JOURNAL OF MEDICAL GENETICS

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE