European Journal of Human Genetics

Papers
(The H4-Index of European Journal of Human Genetics is 34. 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 2020-07-01 to 2024-07-01.)
ArticleCitations
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population175
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics86
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort69
Estimation of the number of people with Down syndrome in Europe68
Barriers and facilitators for cascade testing in genetic conditions: a systematic review64
The LOVD3 platform: efficient genome-wide sharing of genetic variants60
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria60
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)60
Reflections on dynamic consent in biomedical research: the story so far58
Recommendations for whole genome sequencing in diagnostics for rare diseases53
Sex-specific genetic effects across biomarkers53
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency53
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases52
Understanding the assumptions underlying Mendelian randomization52
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs49
A comparison of genotyping arrays46
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases45
Stepwise ABC system for classification of any type of genetic variant43
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice43
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents41
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation41
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data40
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis39
Analysis of large-language model versus human performance for genetics questions39
Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data39
‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research38
Rapid genomic testing for critically ill children: time to become standard of care?37
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics36
A comprehensive SARS-CoV-2 and COVID-19 review, Part 1: Intracellular overdrive for SARS-CoV-2 infection36
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research36
MobiDetails: online DNA variants interpretation35
Identification of distinct transcriptome signatures of human adipose tissue from fifteen depots35
Atrial fibrillation—a complex polygenetic disease34
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer34
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders34
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