European Journal of Human Genetics

Papers
(The H4-Index of European Journal of Human Genetics is 31. 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 2020-08-01 to 2024-08-01.)
ArticleCitations
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics86
Estimation of the number of people with Down syndrome in Europe72
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort70
Barriers and facilitators for cascade testing in genetic conditions: a systematic review68
The LOVD3 platform: efficient genome-wide sharing of genetic variants66
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria62
Reflections on dynamic consent in biomedical research: the story so far59
Understanding the assumptions underlying Mendelian randomization58
Recommendations for whole genome sequencing in diagnostics for rare diseases57
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs55
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases53
Sex-specific genetic effects across biomarkers53
A comparison of genotyping arrays47
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases46
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice44
Stepwise ABC system for classification of any type of genetic variant43
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation43
Analysis of large-language model versus human performance for genetics questions42
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents41
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis41
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data40
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics40
‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research40
Rapid genomic testing for critically ill children: time to become standard of care?37
Atrial fibrillation—a complex polygenetic disease36
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer36
A comprehensive SARS-CoV-2 and COVID-19 review, Part 1: Intracellular overdrive for SARS-CoV-2 infection36
MobiDetails: online DNA variants interpretation35
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders34
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research33
Long-read trio sequencing of individuals with unsolved intellectual disability31
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