OOIR: Observatory of International Research

Papers

(The H4-Index of Human Genetics is 26. 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
The relationship between the gut microbiome and host gene expression: a review	97
Causal influences of neuroticism on mental health and cardiovascular disease	74
Embeddings from protein language models predict conservation and variant effects	67
The clinical utility of exome and genome sequencing across clinical indications: a systematic review	52
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair	51
Collagen transport and related pathways in Osteogenesis Imperfecta	51
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification	49
Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance	45
Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants	43
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients	36
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants	36
The microbiome, genetics, and gastrointestinal neoplasms: the evolving field of molecular pathological epidemiology to analyze the tumor–immune–microbiome interaction	35
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review	35
Genetic etiology of non-syndromic hearing loss in Europe	34
Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin	33
An effector index to predict target genes at GWAS loci	33
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation	33
Multi-omics highlights ABO plasma protein as a causal risk factor for COVID-19	32
Genome interpretation using in silico predictors of variant impact	32
Association of CXCR6 with COVID-19 severity: delineating the host genetic factors in transcriptomic regulation	31
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia	31
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss	29
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse	28
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss	27
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease	27

A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome	26
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure	26