OOIR: Observatory of International Research

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 2020-11-01 to 2024-11-01.)

Article	Citations
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics	89
The LOVD3 platform: efficient genome-wide sharing of genetic variants	70
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria	67
Understanding the assumptions underlying Mendelian randomization	63
Recommendations for whole genome sequencing in diagnostics for rare diseases	61
Reflections on dynamic consent in biomedical research: the story so far	60
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs	57
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases	54
A comparison of genotyping arrays	50
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases	48
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice	47
Analysis of large-language model versus human performance for genetics questions	47
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis	45
A comprehensive SARS-CoV-2 and COVID-19 review, Part 1: Intracellular overdrive for SARS-CoV-2 infection	44
Stepwise ABC system for classification of any type of genetic variant	44
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics	43
‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research	42
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data	41
Rapid genomic testing for critically ill children: time to become standard of care?	40
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer	39
MobiDetails: online DNA variants interpretation	38
Atrial fibrillation—a complex polygenetic disease	38
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders	34
Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process	33
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research	33

Polygenic risk modeling for prediction of epithelial ovarian cancer risk	33
Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer Centre	32
Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?	31
A tool for translating polygenic scores onto the absolute scale using summary statistics	31
What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions	31
Long-read trio sequencing of individuals with unsolved intellectual disability	31