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 2021-09-01 to 2025-09-01.)

Article	Citations
A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome	18
ABCA1 variant rs9282541 is associated with metabolic syndrome in Maya children	14
Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering	13
Genetic Polymorphisms of 16 X‐STR Loci in the Yi Ethnic Minority of Chuxiong Yi Autonomous Prefecture in Yunnan Province in China	12
Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations	11
High accuracy of single‐molecule real‐time sequencing in detecting a rare α‐globin fusion gene in carrier screening population	10
	10
Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes	9
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology	9
	8
Genetics of ataxia telangiectasia in a highly consanguineous population	8
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss	8
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
Using potential variable to study gene–gene and gene–environment interaction effects with genetic model uncertainty	7
Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia	7
Using the Bayesian variational spike and slab model in a genome‐wide association study for finding associated loci with bipolar disorder	7
Causal Effects of Inflammatory Cytokines on Urethral Stricture Disease: A Bidirectional Mendelian Randomization Study	6
Recent Statistical Innovations in Human Genetics	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
Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genom	6
The role of next‐generation sequencing in the examination of signaling genes in Brca1/2‐negative breast cancer cases	5
NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long‐read sequencing	5
	5
A comprehensive meta‐analysis to identify susceptibility genetic variants for precocious puberty	5

The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)	4
The molecular basis of lactase persistence: Linking genetics and epigenetics	4
Population stratification correction using Bayesian shrinkage priors for genetic association studies	4
Dissecting the Genetic Affinity Between the Orang Asli and Southeast Asian Native Populations	4
Genetics and Genomics in Health and Disease: A Focus on African Populations	3
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom	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
Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina	3
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype	3
Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders	3
	3
Development of molecular diagnostic platform for α⁰‐thalassemia 44.6 kb (Chiang Rai, ‐‐^CR) deletion in individuals with microcytic red blood cells across Thailand	3
Exploring the Causal Link Between Systemic Lupus Erythematosus and Stroke Risk Through Mendelian Randomization Study	3
	3
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy	2
NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity	2
Opportunities and Challenges of Population Pharmacogenomics	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
Issue Information	2
Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR	2
Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study	2
Identification of the β thalassemia allele β^–50 and analysis of the hematology data of carriers in a southern Chinese population	2
Using Drosophila amyloid toxicity models to study Alzheimer's disease	2
Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and H‐type hypertension: A systematic review and meta‐analysis	2
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure	2
	2
Professor David Hopkinson (26 June 1935–22 March 2025). Former Editor‐in‐Chief of the Annals of Human Genetics; in Memoriam Tribute	2
The Promise and Challenges of Genomics for Patients and Families Affected by Rare Conditions	2
Issue Information	2
	2
Issue Information	2