400
Articles
9.5K
Citations
3.5
avg. Impact Factor
49
h-index

Most Cited Articles of Faculty of Medicine

TitleJournalYearCitations
The MLL recombinome of acute leukemias in 2013Leukemia2013326
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancerJAMA - Journal of the American Medical Association2015286
Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermiaMolecular Human Reproduction2008283
Genomic imprinting in disruptive spermatogenesisLancet, The2004276
Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemiaNature2014192
Identification of six new susceptibility loci for invasive epithelial ovarian cancerNature Genetics2015177
Epigenetics in prostate cancer: biologic and clinical relevanceEuropean Urology2011164
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT studyEuropean Urology2014156
A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup NAmerican Journal of Human Genetics2004153
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutationsHuman Mutation2018138
High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermiaMolecular Human Reproduction2002127
Genetic basis of PD-L1 overexpression in diffuse large B-cell lymphomasBlood2016126
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGSJournal of Medical Genetics2016121
Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in EuropeEuropean Journal of Human Genetics2010117
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issuesEuropean Journal of Human Genetics2006116
Expression of FOXA1 and GATA-3 in breast cancer: the prognostic significance in hormone receptor-negative tumoursBreast Cancer Research2009113
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer TypesCancer Discovery2016104
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1PLoS Genetics201399
Regulation of Mammalian Mitochondrial Gene Expression: Recent AdvancesTrends in Biochemical Sciences201797
Methylation defects of imprinted genes in human testicular spermatozoaFertility and Sterility201097
Major regulatory mechanisms involved in sperm motilityAsian Journal of Andrology201795
Gene amplification of the histone methyltransferase SETDB1 contributes to human lung tumorigenesisOncogene201494
DNA methylation imprinting marks and DNA methyltransferase expression in human spermatogenic cell stagesEpigenetics201194
Predictive value of testicular histology in secretory azoospermic subgroups and clinical outcome after microinjection of fresh and frozen-thawed sperm and spermatidsHuman Reproduction200294
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4American Journal of Human Genetics201590