Selected Publications

Year Author Title Journal
2017 Munne, S. & Cohen, J. Advanced maternal age patients benefit from preimplantation genetic diagnosis of aneuploidy Fertility and Sterility
2017 Zhang, J. et al Live birth derived from oocyte spindle transfer to prevent mitochondrial disease Reproductive BioMedicine Online
2017 Munne, S. & Wells, D. Detection of mosaicism at blastocyst stage with the use of high-resolution next-generation sequencing Fertility and Sterility
2017 Coates, A. et al Optimal euploid embryo transfer strategy, fresh versus frozen, after preimplantation genetic screening with next generation sequencing: a randomized controlled trial Fertility and Sterility
2016 Coates, A. et al Differences in pregnancy outcomes in donor egg frozen embryo transfer (FET) cycles following preimplantation genetic screening (PGS): a single center retrospective study Journal of Assisted Reproduction and Genetics
2016 Maxwell, 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 sequencing Fertility and Sterility
2016 Ravichandran, K. et al Causes and estimated incidences of sex-chromosome misdiagnosis in preimplantation genetic diagnosis of aneuploidy Reproductive BioMedicine Online
2016 Harper, J. et al Current controversies in prenatal diagnosis 4: preimplantation genetic screening should be routinely offered to all preimplantation genetic diagnosis cases Prenatal Diagnosis
2016 Ben-Nagi, J. et al Preimplantation genetic diagnosis: an overview and recent advances. The Obstetrician & Gynaecologist
2016 Enciso, M. et al Polymorphisms in the MTHFR gene influence embryo viability and the incidence of aneuploidy Human Genetics
2016 Hyslop, L.A. et al Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease Nature
2016 Cariati, F. et al Investigation of sperm telomere length as a potential marker of paternal genome integrity and semen quality. Reproductive BioMedicine Online
2016 Diot, A. et al Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children. Biochemical Society Transactions
2016 Sermon, 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 embryologists Human Reproduction
2015 Spath, K. & Wells, D. Deep impact: sequencing embryo biopsy specimens at increasing depth Reproductive BioMedicine Online
2015 Łukaszuk, 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 cycles Fertility and Sterility
2015 Thornhill, 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
2015 Poli, M. et al Characterization and quantification of proteins secreted by single human embryos prior to implantation EMBO Molecular Medicine
2015 Gimenez, C. et al Karyomapping allows preimplantation genetic diagnosis of a de-novo deletion undetectable using conventional PGD technology Reproductive BioMedicine Online
2015 Ottolini, C.S. et al Karyomapping identifies second polar body DNA persisting to the blastocyst stage: implications for embryo biopsy Reproductive BioMedicine Online
2015 Konstantinidis, M. et al Live Births following Karyomapping of Human Blastocysts – Experience from Clinical Application of the Method Reproductive BioMedicine Online
2015 Fragouli, E. et al Altered levels of mitochondrial DNA are associated with female age, aneuploidy, and provide an independent measure of embryonic implantation potential PLOS
2015 Grifo, J.A. et al Deliveries from trophectoderm biopsied, fresh and vitrified blastocysts derived from polar body biopsied, vitrified oocytes Reproductive BioMedicine Online
2015 Kung, A. et al Validation of next-generation sequencing for comprehensive chromosome screening of embryos Reproductive BioMedicine Online
2015 Peters, A. et al Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing Genome Research
2015 Fragouli, E. & Wells, D. Mitochondrial DNA Assessment to Determine Oocyte and Embryo Viability Seminars in Reproductive Medicine
2015 Orzack, S.H. et al The human sex ratio from conception to birth PNAS