OOIR: Observatory of International Research

Papers

(The median citation count of Annals of Human Genetics is 1. 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 2022-08-01 to 2026-08-01.)

Article	Citations
Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering	27
Genetic Polymorphisms of 16 X‐STR Loci in the Yi Ethnic Minority of Chuxiong Yi Autonomous Prefecture in Yunnan Province in China	19
ABCA1 variant rs9282541 is associated with metabolic syndrome in Maya children	16
Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations	16
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Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology	14
High accuracy of single‐molecule real‐time sequencing in detecting a rare α‐globin fusion gene in carrier screening population	12
Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes	11
Estimation of genetic heritabilities of human traits in case–control studies	11
Using the Bayesian variational spike and slab model in a genome‐wide association study for finding associated loci with bipolar disorder	11
Recent Statistical Innovations in Human Genetics	10
Causal Effects of Inflammatory Cytokines on Urethral Stricture Disease: A Bidirectional Mendelian Randomization Study	10
FIGLA Novel Variant c.385‐9G>A Affects RNA Splicing in a Minigene Assay	10
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The role of next‐generation sequencing in the examination of signaling genes in Brca1/2‐negative breast cancer cases	9
Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genom	9
Dissecting the Genetic Affinity Between the Orang Asli and Southeast Asian Native Populations	9
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	9
The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)	8
Population stratification correction using Bayesian shrinkage priors for genetic association studies	8
A comprehensive meta‐analysis to identify susceptibility genetic variants for precocious puberty	7
NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long‐read sequencing	7
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
Genetics and Genomics in Health and Disease: A Focus on African Populations	5

Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina	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
Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders	4
Exploring the Causal Link Between Systemic Lupus Erythematosus and Stroke Risk Through Mendelian Randomization Study	4
Issue Information	4
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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
Structural Variations of Alu Elements in the Kuwaiti Population: Laying the Foundations for Forensic Medicine	4
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Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype	4
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Issue Information	3
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Professor David Hopkinson (26 June 1935–22 March 2025). Former Editor‐in‐Chief of the Annals of Human Genetics ; in Memoriam Tribute	3
Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR	3
Genetic portrait of the Amazonian communities of Peru and Bolivia: The legacy of the Takanan‐speaking people	3
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure	3
Using Drosophila amyloid toxicity models to study Alzheimer's disease	3
NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity	3
Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High‐Altitude Adaptive Genetic Variants	3
Issue Information	3
The Promise and Challenges of Genomics for Patients and Families Affected by Rare Conditions	3
Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study	3
Identification of PSMA4 as a Therapeutic Target for Atherosclerosis: A Comprehensive Multiomics Mendelian Randomization Analysis	3
Genetic variations in CYP2A6, CYP2E1, GSTM1, GSTT1 genes and the risk of Nasopharyngeal carcinoma in North African population	2
Issue Information	2
Identifying a Genetic Link Between Lung Function and Psoriasis	2
The Fortunes of Genomic Medicine: A Quarter Century of Promise	2
Association of blood lipid profiles and asthma: A bidirectional two‐sample Mendelian randomization study	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
Correction to “Recent Statistical Innovations in Human Genetics”	2
A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences	2
Issue Information	2
Prevalence of the Main Human Genetic Variants Related to Resistance to Malaria in a Population of the Colombian Pacific Coast	2
Trans‐Ancestry Psychiatric Genomics in Admixed Populations: Advances, Challenges, and Future Directions	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
Issue Information	2
Response to Letter on “Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High‐Altitude Ada	2
Methods for multiancestry genome‐wide association study meta‐analysis	2
A splice site variant inTCTN3underlies an atypical form of orofaciodigital syndrome IV	2
Clinical and immunological features of four patients with activation‐induced cytidine deaminase deficiency: Renal amyloidosis and other presentations	2
Expanding the LOXHD1 Mutational Spectrum: A North Indian Case of ARNSHL	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
An indel introduced by Neanderthal introgression, rs3835124:ATTTATT > ATT, might contribute to prostate cancer risk by regulating PDK1 expression	2
Multimarker omnibus tests by leveraging individual marker summary statistics from large biobanks	1
The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual Disability	1
Genotype and Haplotype Analysis With In Silico Prediction of TMPRSS2 Gene in Jordanian Population	1

Construction of a Prognostic and Diagnostic Gene Signature Based on the Characteristics of Cancer Stem‐Like Cells for the Treatment Guidance of Hepatocellular Carcinoma	1
Issue Information	1
Pitfalls of predicting age‐related traits by polygenic risk scores	1
Issue Information	1
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Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting	1
Genetic Determinants of the Familial Hypercholesterolaemia Phenotype	1
Automated Evaluation of D‐Score for Facial Dysmorphism Analysis in Central African Children With Developmental Disorders	1
Issue Information	1
First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC)	1
Identification of key variants correlated with susceptibility of primary osteoporosis in the Chinese Han group	1
A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics	1
Bidirectional Mendelian Randomization Study: Unraveling the Link Between Idiopathic Pulmonary Fibrosis and Cardiovascular Disease	1
Secondary findings in 443 exome sequencing data	1
Causal effect of severe and non‐severe malaria on dyslipidemia in African Ancestry individuals: A Mendelian randomization study	1
First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants	1
Exploring and Expanding Secondary Findings Through Exome Sequencing in the Turkish Population	1
Genetic Diversity and Historical Divergence of Malays and Indigenous Populations in Peninsular Malaysia and Northern Borneo	1
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Effects of BRCA variation on prognosis in patients with nonmetastatic breast cancer	1
Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia	1
Histone modification: Biomarkers and potential therapies in colorectal cancer	1
The prevalence and linkage disequilibrium of 21 genetic variations related to thrombophilia, folate cycle, and hypertension in reproductive age women of Rostov region (Russia)	1
Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP	1
Epigenetic Shifts in MTNR1A, MTNR1B and Fn14 and Their Links to Preeclampsia Risk	1
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