European Journal of Human Genetics

(The H4-Index of European Journal of Human Genetics is 32. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-04-01 to 2024-04-01.)
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 pandemic615
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population171
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes162
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics72
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics67
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome62
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort62
Estimation of the number of people with Down syndrome in Europe61
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria56
Barriers and facilitators for cascade testing in genetic conditions: a systematic review55
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)54
The LOVD3 platform: efficient genome-wide sharing of genetic variants52
Sex-specific genetic effects across biomarkers49
Reflections on dynamic consent in biomedical research: the story so far48
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency48
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases46
Recommendations for whole genome sequencing in diagnostics for rare diseases45
A comparison of genotyping arrays41
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases40
Understanding the assumptions underlying Mendelian randomization40
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents39
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation39
Stepwise ABC system for classification of any type of genetic variant38
Rapid genomic testing for critically ill children: time to become standard of care?37
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice37
Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data35
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs35
EMQN best practice guidelines for genetic testing in dystrophinopathies35
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data34
MobiDetails: online DNA variants interpretation33
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research33
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis33
Identification of distinct transcriptome signatures of human adipose tissue from fifteen depots32
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer32