OOIR: Observatory of International Research

Papers

(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 2020-03-01 to 2024-03-01.)

Article	Citations
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 pandemic	607
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population	169
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes	157
Disruptive and avoidable: GDPR challenges to secondary research uses of data	89
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics	70
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics	63
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome	61
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort	61
Estimation of the number of people with Down syndrome in Europe	58
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria	54
Barriers and facilitators for cascade testing in genetic conditions: a systematic review	52
The LOVD3 platform: efficient genome-wide sharing of genetic variants	51
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)	51
Reflections on dynamic consent in biomedical research: the story so far	47
Sex-specific genetic effects across biomarkers	47
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency	47
Inferring the population history of Tai-Kadai-speaking people and southernmost Han Chinese on Hainan Island by genome-wide array genotyping	47
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases	44
Recommendations for whole genome sequencing in diagnostics for rare diseases	42
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases	40
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation	39
Understanding the assumptions underlying Mendelian randomization	39
A comparison of genotyping arrays	39
Rapid genomic testing for critically ill children: time to become standard of care?	37
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents	37

Stepwise ABC system for classification of any type of genetic variant	36
Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data	34
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice	34
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs	33
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research	33
MobiDetails: online DNA variants interpretation	33
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data	32
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer	32
Identification of distinct transcriptome signatures of human adipose tissue from fifteen depots	32
EMQN best practice guidelines for genetic testing in dystrophinopathies	32