OOIR: Observatory of International Research

Papers

(The H4-Index of Human Genetics is 28. 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 2020-04-01 to 2024-04-01.)

Article	Citations
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting	346
The relationship between the gut microbiome and host gene expression: a review	80
Causal influences of neuroticism on mental health and cardiovascular disease	65
Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?	58
Embeddings from protein language models predict conservation and variant effects	52
The clinical utility of exome and genome sequencing across clinical indications: a systematic review	48
Disease gene discovery in male infertility: past, present and future	47
The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?	47
Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance	43
Collagen transport and related pathways in Osteogenesis Imperfecta	42
Towards systematic nomenclature for cell-free DNA	39
Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis	38
Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants	37
Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality	35
ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease	35
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair	35
SZDB2.0: an updated comprehensive resource for schizophrenia research	34
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification	33
The microbiome, genetics, and gastrointestinal neoplasms: the evolving field of molecular pathological epidemiology to analyze the tumor–immune–microbiome interaction	32
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon	32
Combi-CRISPR: combination of NHEJ and HDR provides efficient and precise plasmid-based knock-ins in mice and rats	31
Multi-omics highlights ABO plasma protein as a causal risk factor for COVID-19	30
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia	30
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review	30
Association of CXCR6 with COVID-19 severity: delineating the host genetic factors in transcriptomic regulation	29

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	29
Evolutionary and population (epi)genetics of immunity to infection	28
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation	28
A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse	28