| 1 | Embryo development after heterotopic transplantation of cryopreserved ovarian tissue | Lancet, The | 2004 | 531 |
| 2 | Mutations in SOX2 cause anophthalmia | Nature Genetics | 2003 | 488 |
| 3 | ESHRE PGD Consortium ‘Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)’ | Human Reproduction | 2005 | 424 |
| 4 | Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes | Journal of Medical Genetics | 2010 | 365 |
| 5 | Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism | Nature Genetics | 1998 | 272 |
| 6 | Obstetrical and gynecological complications in fragile X carriers: A multicenter study | American Journal of Medical Genetics Part A | 1994 | 209 |
| 7 | ESHRE PGD Consortium/Embryology Special Interest Group--best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS) | Human Reproduction | 2011 | 206 |
| 8 | Malignant Precursor Cells Pre-Exist in Human Breast DCIS and Require Autophagy for Survival | PLoS ONE | 2010 | 132 |
| 9 | Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest | Journal of Medical Genetics | 2019 | 123 |
| 10 | ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007 | Human Reproduction | 2009 | 119 |
| 11 | Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest | American Journal of Human Genetics | 2020 | 119 |
| 12 | Mutations inTUBB8cause a multiplicity of phenotypes in human oocytes and early embryos | Journal of Medical Genetics | 2016 | 118 |
| 13 | Metformin plus megestrol acetate compared with megestrol acetate alone as fertility‐sparing treatment in patients with atypical endometrial hyperplasia and well‐differentiated endometrial cancer: a randomised controlled trial | BJOG: an International Journal of Obstetrics and Gynaecology | 2020 | 115 |
| 14 | Serum concentrations of enclomiphene and zuclomiphene across consecutive cycles of clomiphene citrate therapy in anovulatory infertile women | Fertility and Sterility | 1999 | 110 |
| 15 | Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism | Fertility and Sterility | 2006 | 104 |
| 16 | Laboratory Evaluation of Women Experiencing Reproductive Failure | American Journal of Reproductive Immunology | 1996 | 103 |
| 17 | Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility | American Journal of Human Genetics | 2020 | 103 |
| 18 | Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation | Human Genetics | 2019 | 98 |
| 19 | Identification of small non-coding RNAs as sperm quality biomarkers for in vitro fertilization | Cell Discovery | 2019 | 92 |
| 20 | A pannexin 1 channelopathy causes human oocyte death | Science Translational Medicine | 2019 | 90 |
| 21 | MiRNA-320 in the human follicular fluid is associated with embryo quality in vivo and affects mouse embryonic development in vitro | Scientific Reports | 2015 | 88 |
| 22 | Immunology: Intravenous immunoglobulin for in-vitro fertilization failure | Human Reproduction | 1994 | 87 |
| 23 | Immunotherapy for Recurrent Pregnancy Loss: Analysis of Results From Clinical Trials | American Journal of Reproductive Immunology | 1996 | 85 |
| 24 | Disruption in
ACTL7A
causes acrosomal ultrastructural defects in human and mouse sperm as a novel male factor inducing early embryonic arrest | Science Advances | 2020 | 85 |
| 25 | ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006 | Human Reproduction | 2008 | 83 |
| 26 | The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility | European Journal of Human Genetics | 2018 | 82 |
| 27 | Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: A prospective multicenter analysis | | 1996 | 79 |
| 28 | Obstetric and neonatal outcomes after transfer of vitrified early cleavage embryos | Human Reproduction | 2013 | 79 |
| 29 | Mutational Analysis of DAX1 in Patients with Hypogonadotropic Hypogonadism or Pubertal Delay1 | Journal of Clinical Endocrinology and Metabolism | 1999 | 77 |
| 30 | Reliable gender screening for human preimplantation embryos, using multiple DNA target-sequences | Human Reproduction | 1992 | 75 |
| 31 | The risk and efficacy of chorionic villus sampling in multiple gestations | Prenatal Diagnosis | 1992 | 75 |
| 32 | What next for preimplantation genetic screening? | Human Reproduction | 2008 | 75 |
| 33 | The mechanism of acentrosomal spindle assembly in human oocytes | Science | 2022 | 74 |
| 34 | Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development | Protein and Cell | 2020 | 72 |
| 35 | Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization | Human Genetics | 1993 | 71 |
| 36 | Exosomes derived from human umbilical cord mesenchymal stem cells accelerate growth of VK2 vaginal epithelial cells through MicroRNAsin vitro | Human Reproduction | 2019 | 69 |
| 37 | Chorionic mosaicism: Association with fetal loss but not with adverse perinatal outcome | Prenatal Diagnosis | 1992 | 67 |
| 38 | MicroRNA expression profile analysis in sperm reveals hsa-mir-191 as an auspicious omen of in vitro fertilization | BMC Genomics | 2020 | 67 |
| 39 | Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest | Journal of Medical Genetics | 2020 | 62 |
| 40 | Chronic exposure to environmental concentrations of phenanthrene impairs zebrafish reproduction | Ecotoxicology and Environmental Safety | 2019 | 60 |
| 41 | Serum progesterone at the time of human chorionic gonadotrophin does not predict pregnancy in in-vitro fertilization and embryo transfer | Human Reproduction | 1995 | 59 |
| 42 | Antiphospholipid Antibody Prevalence in Patients With IVF Failure | American Journal of Reproductive Immunology | 1996 | 58 |
| 43 | Multilocus analysis of the fragile X syndrome | Human Genetics | 1988 | 57 |
| 44 | The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism | Fertility and Sterility | 2005 | 55 |
| 45 | Andrology: Acrosome reaction inducibility predicts fertilization success at in-vitro fertilization | Human Reproduction | 1994 | 54 |
| 46 | Mechanism of progestin resistance in endometrial precancer/cancer through Nrf2-AKR1C1 pathway | Oncotarget | 2016 | 53 |
| 47 | Prohibitin involvement in the generation of mitochondrial superoxide at complex I in human sperm | Journal of Cellular and Molecular Medicine | 2017 | 53 |
| 48 | Effects of reactive oxygen species from activated leucocytes on human sperm motility, viability and morphology | Andrologia | 2012 | 52 |
| 49 | Altered microRNAs expression profiling in cumulus cells from patients with polycystic ovary syndrome | Journal of Translational Medicine | 2015 | 52 |
| 50 | Guidelines for the Preparation and Analysis of the Fragile X Chromosome in Lymphocytes | American Journal of Medical Genetics Part A | 1991 | 51 |
