| # | Title | Journal | Year | Citations |
|---|
| 1 | Sex-specific, male-line transgenerational responses in humans | European Journal of Human Genetics | 2006 | 1,072 |
| 2 | Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period | European Journal of Human Genetics | 2002 | 792 |
| 3 | Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database | European Journal of Human Genetics | 2020 | 716 |
| 4 | The family based association test method: strategies for studying general genotype–phenotype associations | European Journal of Human Genetics | 2001 | 696 |
| 5 | The COVID-19 Host Genetics Initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic | European Journal of Human Genetics | 2020 | 649 |
| 6 | A text-mining analysis of the human phenome | European Journal of Human Genetics | 2006 | 588 |
| 7 | von Hippel–Lindau disease: A clinical and scientific review | European Journal of Human Genetics | 2011 | 588 |
| 8 | Beckwith–Wiedemann syndrome | European Journal of Human Genetics | 2010 | 563 |
| 9 | Prader–Willi syndrome | European Journal of Human Genetics | 2009 | 524 |
| 10 | Bardet–Biedl syndrome | European Journal of Human Genetics | 2013 | 517 |
| 11 | Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens | European Journal of Human Genetics | 2012 | 498 |
| 12 | The spectrum of Familial Mediterranean Fever (FMF) mutations | European Journal of Human Genetics | 2001 | 480 |
| 13 | Dynamic consent: a patient interface for twenty-first century research networks | European Journal of Human Genetics | 2015 | 476 |
| 14 | Genomic inflation factors under polygenic inheritance | European Journal of Human Genetics | 2011 | 460 |
| 15 | Transgenerational response to nutrition, early life circumstances and longevity | European Journal of Human Genetics | 2007 | 459 |
| 16 | Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD | European Journal of Human Genetics | 2008 | 446 |
| 17 | Hereditary haemorrhagic telangiectasia: a clinical and scientific review | European Journal of Human Genetics | 2009 | 413 |
| 18 | Disease gene identification strategies for exome sequencing | European Journal of Human Genetics | 2012 | 412 |
| 19 | Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21 | European Journal of Human Genetics | 1993 | 408 |
| 20 | Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex | European Journal of Human Genetics | 2005 | 405 |
| 21 | Haplotypes vs single marker linkage disequilibrium tests: what do we gain? | European Journal of Human Genetics | 2001 | 392 |
| 22 | Guidelines for diagnostic next-generation sequencing | European Journal of Human Genetics | 2016 | 389 |
| 23 | Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect | European Journal of Human Genetics | 2013 | 380 |
| 24 | Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study | European Journal of Human Genetics | 1996 | 371 |
| 25 | Craniosynostosis | European Journal of Human Genetics | 2011 | 367 |
| 26 | High carrier frequency of the 35delG deafness mutation in European populations | European Journal of Human Genetics | 2000 | 363 |
| 27 | Fragile X syndrome | European Journal of Human Genetics | 2008 | 360 |
| 28 | Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease | European Journal of Human Genetics | 2006 | 348 |
| 29 | Detection of genotyping errors by Hardy–Weinberg equilibrium testing | European Journal of Human Genetics | 2004 | 340 |
| 30 | Evidence of genetic enrichment for exceptional survival using a family approach: the Leiden Longevity Study | European Journal of Human Genetics | 2006 | 339 |
| 31 | Psychological consequences of predictive genetic testing: a systematic review | European Journal of Human Genetics | 2000 | 337 |
| 32 | Whole-genome sequencing in health care | European Journal of Human Genetics | 2013 | 330 |
| 33 | Variation near complement factor I is associated with risk of advanced AMD | European Journal of Human Genetics | 2009 | 324 |
| 34 | Alagille syndrome: pathogenesis, diagnosis and management | European Journal of Human Genetics | 2012 | 319 |
| 35 | Hardy–Weinberg equilibrium in genetic association studies: an empirical evaluation of reporting, deviations, and power | European Journal of Human Genetics | 2005 | 303 |
| 36 | Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations | European Journal of Human Genetics | 1999 | 302 |
| 37 | Clinical exome sequencing: results from 2819 samples reflecting 1000 families | European Journal of Human Genetics | 2017 | 291 |
| 38 | Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome | European Journal of Human Genetics | 2010 | 287 |
| 39 | Pedigree tests of transmission disequilibrium | European Journal of Human Genetics | 2000 | 286 |
| 40 | Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome | European Journal of Human Genetics | 2005 | 284 |
| 41 | Menkes disease | European Journal of Human Genetics | 2010 | 283 |
| 42 | Prion disease genetics | European Journal of Human Genetics | 2006 | 282 |
| 43 | Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening | European Journal of Human Genetics | 2013 | 282 |
| 44 | CHARGE syndrome: an update | European Journal of Human Genetics | 2007 | 280 |
| 45 | Prevalence of lysosomal storage diseases in Portugal | European Journal of Human Genetics | 2004 | 277 |
| 46 | Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes | European Journal of Human Genetics | 2005 | 276 |
| 47 | Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population | European Journal of Human Genetics | 2001 | 273 |
| 48 | Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management | European Journal of Human Genetics | 2008 | 264 |
| 49 | Rubinstein–Taybi syndrome | European Journal of Human Genetics | 2006 | 263 |
| 50 | Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling | European Journal of Human Genetics | 1999 | 260 |
