5.3(top 2%)
Impact Factor
5.9(top 2%)
extended IF
137(top 2%)
H-Index
7.1K
authors
5.4K
papers
171.2K
citations
7.5K
citing journals
89.4K
citing authors

Most Cited Articles of European Journal of Human Genetics

TitleYearCitations
Sex-specific, male-line transgenerational responses in humans2006886
The family based association test method: strategies for studying general genotype--phenotype associations2001667
Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period2002651
Beckwith-Wiedemann syndrome2010482
A text-mining analysis of the human phenome2006470
von Hippel-Lindau disease: a clinical and scientific review2011439
Prader-Willi syndrome2009437
Transgenerational response to nutrition, early life circumstances and longevity2007394
The spectrum of Familial Mediterranean Fever (FMF) mutations2001394
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 SDHD2008377
Haplotypes vs single marker linkage disequilibrium tests: what do we gain?2001358
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens2012356
Dynamic consent: a patient interface for twenty-first century research networks2015355
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 pandemic2020349
Disease gene identification strategies for exome sequencing2012344
Genomic inflation factors under polygenic inheritance2011335
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex2005335
Molecular mapping of twenty-four features of Down syndrome on chromosome 211993333
Bardet-Biedl syndrome2013330
Hereditary haemorrhagic telangiectasia: a clinical and scientific review2009330
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG2000318
Psychological consequences of predictive genetic testing: a systematic review2000298
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease2006293
Meta-analysis of telomere length in 19,713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect2013291
Variation near complement factor I is associated with risk of advanced AMD2009290