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 2021-05-01 to 2025-05-01.)

Article	Citations
A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome	18
Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering	15
Gene‐based association analysis identified a novel gene associated with systemic lupus erythematosus	14
Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations	14
ABCA1 variant rs9282541 is associated with metabolic syndrome in Maya children	11
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology	10
	9
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss	8
High accuracy of single‐molecule real‐time sequencing in detecting a rare α‐globin fusion gene in carrier screening population	8
Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia	8
Genetics of ataxia telangiectasia in a highly consanguineous population	8
Using potential variable to study gene–gene and gene–environment interaction effects with genetic model uncertainty	7
No significant association between SNPs in the CLOCK and ADH4 genes and susceptibility to cluster headaches: A systematic review and meta‐analysis	7
Estimation of genetic heritabilities of human traits in case–control studies	7
Population stratification correction using Bayesian shrinkage priors for genetic association studies	6
The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)	6
Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genom	6
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low‐GGT intrahepatic cholestasis: Genetic diagnosis and genotype–phenotype correl	6
	6
Using the Bayesian variational spike and slab model in a genome‐wide association study for finding associated loci with bipolar disorder	6
The role of next‐generation sequencing in the examination of signaling genes in Brca1/2‐negative breast cancer cases	6
The molecular basis of lactase persistence: Linking genetics and epigenetics	5
A comprehensive meta‐analysis to identify susceptibility genetic variants for precocious puberty	5
NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long‐read sequencing	5
An epigenome‐wide DNA methylation study of patients with COVID‐19	4

A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom	4
Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina	4
	4
Development of molecular diagnostic platform for α⁰‐thalassemia 44.6 kb (Chiang Rai, ‐‐^CR) deletion in individuals with microcytic red blood cells across Thailand	4
	3
An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub‐Saharan Africa	3
Issue Information	3
	3
Issue Information	3
Issue Information	3
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype	3
Issue Information	3
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure	2
	2
Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR	2
Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and H‐type hypertension: A systematic review and meta‐analysis	2
Genetic polymorphism and variability in the Guangdong Hakka, Teochew, and Cantonese groups: A comprehensive analysis of 19 X‐STRs	2
Genetic portrait of the Amazonian communities of Peru and Bolivia: The legacy of the Takanan‐speaking people	2
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy	2
Opportunities and Challenges of Population Pharmacogenomics	2
Identification of the β thalassemia allele β^–50 and analysis of the hematology data of carriers in a southern Chinese population	2
NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity	2
Effect of high variation in transcript expression on identifying differentially expressed genes in RNA‐seq analysis	2
Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study	2
Using Drosophila amyloid toxicity models to study Alzheimer's disease	2
Issue Information	2