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 2021-11-01 to 2025-11-01.)

Article	Citations
Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations	20
ABCA1 variant rs9282541 is associated with metabolic syndrome in Maya children	15
Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering	14
A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome	13
Genetic Polymorphisms of 16 X‐STR Loci in the Yi Ethnic Minority of Chuxiong Yi Autonomous Prefecture in Yunnan Province in China	13
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss	10
	10
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology	10
	9
High accuracy of single‐molecule real‐time sequencing in detecting a rare α‐globin fusion gene in carrier screening population	9
No significant association between SNPs in the CLOCK and ADH4 genes and susceptibility to cluster headaches: A systematic review and meta‐analysis	8
Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia	8
Using potential variable to study gene–gene and gene–environment interaction effects with genetic model uncertainty	8
Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes	8
Estimation of genetic heritabilities of human traits in case–control studies	7
Causal Effects of Inflammatory Cytokines on Urethral Stricture Disease: A Bidirectional Mendelian Randomization Study	7
Using the Bayesian variational spike and slab model in a genome‐wide association study for finding associated loci with bipolar disorder	7
Recent Statistical Innovations in Human Genetics	7
Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genom	7
	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
Population stratification correction using Bayesian shrinkage priors for genetic association studies	5
The role of next‐generation sequencing in the examination of signaling genes in Brca1/2‐negative breast cancer cases	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

The molecular basis of lactase persistence: Linking genetics and epigenetics	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
Dissecting the Genetic Affinity Between the Orang Asli and Southeast Asian Native Populations	4
Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina	4
The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)	4
	3
Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders	3
	3
Genetics and Genomics in Health and Disease: A Focus on African Populations	3
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype	3
Exploring the Causal Link Between Systemic Lupus Erythematosus and Stroke Risk Through Mendelian Randomization Study	3
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure	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
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Issue Information	3
Issue Information	2
Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR	2
Using Drosophila amyloid toxicity models to study Alzheimer's disease	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
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy	2
Professor David Hopkinson (26 June 1935–22 March 2025). Former Editor‐in‐Chief of the Annals of Human Genetics; in Memoriam Tribute	2
Issue Information	2
The Promise and Challenges of Genomics for Patients and Families Affected by Rare Conditions	2
The Centenary Special Issue of the Annals of Human Genetics	2
Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and H‐type hypertension: A systematic review and meta‐analysis	2
A de novo low‐frequency mosaic variant of KIF1A causes hereditary spastic paraplegia: A literature review	2
Genetic portrait of the Amazonian communities of Peru and Bolivia: The legacy of the Takanan‐speaking people	2
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Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study	2
NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity	2
Issue Information	2
CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population	2