Selected Publications

2017Munne, S. & Cohen, J. Advanced maternal age patients benefit from preimplantation genetic diagnosis of aneuploidyFertility and Sterility
2017Zhang, J. et al Live birth derived from oocyte spindle transfer to prevent mitochondrial diseaseReproductive BioMedicine Online
2017Munne, S. & Wells, D. Detection of mosaicism at blastocyst stage with the use of high-resolution next-generation sequencingFertility and Sterility
2017Coates, A. et al Optimal euploid embryo transfer strategy, fresh versus frozen, after preimplantation genetic screening with next generation sequencing: a randomized controlled trialFertility and Sterility
2016Coates, A. et al Differences in pregnancy outcomes in donor egg frozen embryo transfer (FET) cycles following preimplantation genetic screening (PGS): a single center retrospective studyJournal of Assisted Reproduction and Genetics
2016Maxwell, S. et al Why do euploid embryos miscarry? A case-control study comparing the rate of aneuploidy within presumed euploid embryos that resulted in miscarriage or live birth using next-generation sequencingFertility and Sterility
2016Ravichandran, K. et al Causes and estimated incidences of sex-chromosome misdiagnosis in preimplantation genetic diagnosis of aneuploidyReproductive BioMedicine Online
2016Harper, J. et al Current controversies in prenatal diagnosis 4: preimplantation genetic screening should be routinely offered to all preimplantation genetic diagnosis casesPrenatal Diagnosis
2016Ben-Nagi, J. et al Preimplantation genetic diagnosis: an overview and recent advances.The Obstetrician & Gynaecologist
2016Enciso, M. et al Polymorphisms in the MTHFR gene influence embryo viability and the incidence of aneuploidyHuman Genetics
2016Hyslop, L.A. et al Towards clinical application of pronuclear transfer to prevent mitochondrial DNA diseaseNature
2016Cariati, F. et al Investigation of sperm telomere length as a potential marker of paternal genome integrity and semen quality.Reproductive BioMedicine Online
2016Diot, A. et al Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children.Biochemical Society Transactions
2016Sermon, K. et al The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists, and embryologistsHuman Reproduction
2015Spath, K. & Wells, D. Deep impact: sequencing embryo biopsy specimens at increasing depthReproductive BioMedicine Online
2015Łukaszuk, K. et al Routine use of next-generation sequencing for preimplantation genetic diagnosis of blastomeres obtained from embryos on day 3 in fresh in vitro fertilization cyclesFertility and Sterility
2015Thornhill, A.R. et al Karyomapping – a comprehensive means of simultaneous monogenic and cytogenetic PGD: Comparison with standard approaches in real time for Marfan syndrome.Journal of Assisted Reproduction and Genetics
2015Poli, M. et al Characterization and quantification of proteins secreted by single human embryos prior to implantationEMBO Molecular Medicine
2015Gimenez, C. et al Karyomapping allows preimplantation genetic diagnosis of a de-novo deletion undetectable using conventional PGD technologyReproductive BioMedicine Online
2015Ottolini, C.S. et al Karyomapping identifies second polar body DNA persisting to the blastocyst stage: implications for embryo biopsyReproductive BioMedicine Online
2015Konstantinidis, M. et al Live Births following Karyomapping of Human Blastocysts – Experience from Clinical Application of the MethodReproductive BioMedicine Online
2015Fragouli, E. et al Altered levels of mitochondrial DNA are associated with female age, aneuploidy, and provide an independent measure of embryonic implantation potentialPLOS
2015Grifo, J.A. et al Deliveries from trophectoderm biopsied, fresh and vitrified blastocysts derived from polar body biopsied, vitrified oocytesReproductive BioMedicine Online
2015Kung, A. et al Validation of next-generation sequencing for comprehensive chromosome screening of embryosReproductive BioMedicine Online
2015Peters, A. et al Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencingGenome Research
2015Fragouli, E. & Wells, D. Mitochondrial DNA Assessment to Determine Oocyte and Embryo ViabilitySeminars in Reproductive Medicine
2015Orzack, S.H. et al The human sex ratio from conception to birthPNAS