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 2022-06-01 to 2026-06-01.)

Article	Citations
Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering	23
Genetic Polymorphisms of 16 X‐STR Loci in the Yi Ethnic Minority of Chuxiong Yi Autonomous Prefecture in Yunnan Province in China	17
Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations	16
ABCA1 variant rs9282541 is associated with metabolic syndrome in Maya children	15
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Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes	14
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology	11
High accuracy of single‐molecule real‐time sequencing in detecting a rare α‐globin fusion gene in carrier screening population	10
Estimation of genetic heritabilities of human traits in case–control studies	10
Using the Bayesian variational spike and slab model in a genome‐wide association study for finding associated loci with bipolar disorder	9
A comprehensive meta‐analysis to identify susceptibility genetic variants for precocious puberty	8
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	8
Recent Statistical Innovations in Human Genetics	8
Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genom	8
Causal Effects of Inflammatory Cytokines on Urethral Stricture Disease: A Bidirectional Mendelian Randomization Study	8
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Dissecting the Genetic Affinity Between the Orang Asli and Southeast Asian Native Populations	7
NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long‐read sequencing	6
The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)	6
The role of next‐generation sequencing in the examination of signaling genes in Brca1/2‐negative breast cancer cases	6
Development of molecular diagnostic platform for α⁰‐thalassemia 44.6 kb (Chiang Rai, ‐‐^CR) deletion in individuals with microcytic red blood cells across Thailand	5
Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina	5
Population stratification correction using Bayesian shrinkage priors for genetic association studies	5
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom	5

The molecular basis of lactase persistence: Linking genetics and epigenetics	5
Issue Information	4
Genetics and Genomics in Health and Disease: A Focus on African Populations	4
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	4
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype	4
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Exploring the Causal Link Between Systemic Lupus Erythematosus and Stroke Risk Through Mendelian Randomization Study	3
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Issue Information	3
Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study	3
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure	3
Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders	3
Genetic portrait of the Amazonian communities of Peru and Bolivia: The legacy of the Takanan‐speaking people	3
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High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy	3
Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR	3
Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High‐Altitude Adaptive Genetic Variants	3
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Issue Information	3
The Promise and Challenges of Genomics for Patients and Families Affected by Rare Conditions	3
Identification of PSMA4 as a Therapeutic Target for Atherosclerosis: A Comprehensive Multiomics Mendelian Randomization Analysis	3
Opportunities and Challenges of Population Pharmacogenomics	3
A splice site variant inTCTN3underlies an atypical form of orofaciodigital syndrome IV	2
Expanding the LOXHD1 Mutational Spectrum: A North Indian Case of ARNSHL	2
Clinical and immunological features of four patients with activation‐induced cytidine deaminase deficiency: Renal amyloidosis and other presentations	2
An indel introduced by Neanderthal introgression, rs3835124:ATTTATT > ATT, might contribute to prostate cancer risk by regulating PDK1 expression	2
Using Drosophila amyloid toxicity models to study Alzheimer's disease	2
Genetic polymorphism and variability in the Guangdong Hakka, Teochew, and Cantonese groups: A comprehensive analysis of 19 X‐STRs	2
Correction to “Recent Statistical Innovations in Human Genetics”	2
The Fortunes of Genomic Medicine: A Quarter Century of Promise	2
Prevalence of the Main Human Genetic Variants Related to Resistance to Malaria in a Population of the Colombian Pacific Coast	2
Methods for multiancestry genome‐wide association study meta‐analysis	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 Centenary Special Issue of the Annals of Human Genetics	2
A de novo low‐frequency mosaic variant of KIF1A causes hereditary spastic paraplegia: A literature review	2
A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences	2
Genetic variations in CYP2A6, CYP2E1, GSTM1, GSTT1 genes and the risk of Nasopharyngeal carcinoma in North African population	2
Issue Information	2
NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity	2
Issue Information	2
Association of blood lipid profiles and asthma: A bidirectional two‐sample Mendelian randomization study	2