The MLL recombinome of acute leukemias in 2013 | Leukemia | 2013 | 326 |
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer | JAMA - Journal of the American Medical Association | 2015 | 286 |
Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia | Molecular Human Reproduction | 2008 | 283 |
Genomic imprinting in disruptive spermatogenesis | Lancet, The | 2004 | 276 |
Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia | Nature | 2014 | 192 |
Identification of six new susceptibility loci for invasive epithelial ovarian cancer | Nature Genetics | 2015 | 177 |
Epigenetics in prostate cancer: biologic and clinical relevance | European Urology | 2011 | 164 |
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study | European Urology | 2014 | 156 |
A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N | American Journal of Human Genetics | 2004 | 153 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations | Human Mutation | 2018 | 138 |
High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia | Molecular Human Reproduction | 2002 | 127 |
Genetic basis of PD-L1 overexpression in diffuse large B-cell lymphomas | Blood | 2016 | 126 |
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS | Journal of Medical Genetics | 2016 | 121 |
Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe | European Journal of Human Genetics | 2010 | 117 |
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues | European Journal of Human Genetics | 2006 | 116 |
Expression of FOXA1 and GATA-3 in breast cancer: the prognostic significance in hormone receptor-negative tumours | Breast Cancer Research | 2009 | 113 |
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types | Cancer Discovery | 2016 | 104 |
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1 | PLoS Genetics | 2013 | 99 |
Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances | Trends in Biochemical Sciences | 2017 | 97 |
Methylation defects of imprinted genes in human testicular spermatozoa | Fertility and Sterility | 2010 | 97 |
Major regulatory mechanisms involved in sperm motility | Asian Journal of Andrology | 2017 | 95 |
Gene amplification of the histone methyltransferase SETDB1 contributes to human lung tumorigenesis | Oncogene | 2014 | 94 |
DNA methylation imprinting marks and DNA methyltransferase expression in human spermatogenic cell stages | Epigenetics | 2011 | 94 |
Predictive value of testicular histology in secretory azoospermic subgroups and clinical outcome after microinjection of fresh and frozen-thawed sperm and spermatids | Human Reproduction | 2002 | 94 |
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4 | American Journal of Human Genetics | 2015 | 90 |