OOIR: Observatory of International Research

Papers

(The TQCC of Annals of Human Genetics is 2. 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 2021-04-01 to 2025-04-01.)

Article	Citations
	18
ABCA1 variant rs9282541 is associated with metabolic syndrome in Maya children	15
Nonsense suppression induces read‐through of a novel BMPR1A variant in a Chinese family with hereditary colorectal cancer	12
Issue Information	11
Gene‐based association analysis identified a novel gene associated with systemic lupus erythematosus	8
GR‐α and GR‐β mRNA levels in peripheral blood mononuclear cells of acute myelitis patients can assist in the identification of glucocorticoid sensitivity and are correlated with glucocorticoid therape	8
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure	8
	8
A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome	7
Issue Information	7
Issue Information	7
Effect of high variation in transcript expression on identifying differentially expressed genes in RNA‐seq analysis	7
Identification of key variants correlated with susceptibility of primary osteoporosis in the Chinese Han group	6
Spinocerebellar ataxia type 10 and Huntington disease‐like 2 in Venezuela: Further evidence of two different ancestral founder effects	6
Issue Information	6
Mutation spectrum of hereditary myopathies in Turkish patients and novel variants	6
Increased prevalence of the null allele of the p.Arg577Ter variant in the ACTN3 gene in Brazilian long‐distance athletes: A retrospective study	6
	6
Genetic portrait of the Amazonian communities of Peru and Bolivia: The legacy of the Takanan‐speaking people	5
Issue Information	5
Traces of Bronze Age globalization in East Asia: Insights from a revised phylogeography of the Y‐chromosome haplogroup Q1a1a‐M120	4
The effect of TRIM5 variants on the susceptibility to HIV‐1 infection and disease progression in the Polish population	4
Heritability and genetic correlations of obesity indices and cardiometabolic traits in the Northern Chinese families	4
	4
Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering	4

Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations	4
Issue Information	3
Issue Information	3
Response to Letter to the Editor: “Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet–Biedl syndrome”	3
Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia	3
External hydrocephalus as a prenatal feature of noonan syndrome	3
Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and H‐type hypertension: A systematic review and meta‐analysis	3
PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India	3
Identification and analysis of genes associated with lung adenocarcinoma by integrated bioinformatics methods	3
Attention‐deficit/hyperactivity disorder and dopamine receptor D4 (DRD4) exon 3 variable number of tandem repeats (VNTR) 2‐repeat allele	3
The dawn of a cure for sickle cell disease through CRISPR‐based treatment: A critical test of equity in public health genomics	2
A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics	2
Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia	2
Issue Information	2
RETRACTION: Investigating the Effectiveness of Forensic Genetics and Population Genetic Diversity Using a Multi‐InDel System in Chinese Hezhou and Southern Shaanxi Han Populations	2
Population structure and relatedness estimates in a Mexican sample	2
	2
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology	2
	2
Using Drosophila amyloid toxicity models to study Alzheimer's disease	2
	2
	2
Ursula Mittwoch: Pioneering geneticist who solved the riddle of sexes	2
Issue Information	2
RETRACTED: Investigating the effectiveness of forensic genetics and population genetic diversity using a multi‐InDel system in Chinese Hezhou and Southern Shaanxi Han populations	2
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss	2