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 2022-05-01 to 2026-05-01.)

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
High accuracy of single‐molecule real‐time sequencing in detecting a rare α‐globin fusion gene in carrier screening population	11
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Using potential variable to study gene–gene and gene–environment interaction effects with genetic model uncertainty	10
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology	10
Estimation of genetic heritabilities of human traits in case–control studies	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	8
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Causal Effects of Inflammatory Cytokines on Urethral Stricture Disease: A Bidirectional Mendelian Randomization Study	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
Using the Bayesian variational spike and slab model in a genome‐wide association study for finding associated loci with bipolar disorder	8
Recent Statistical Innovations in Human Genetics	7
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A comprehensive meta‐analysis to identify susceptibility genetic variants for precocious puberty	6
The molecular basis of lactase persistence: Linking genetics and epigenetics	6
Genetics and Genomics in Health and Disease: A Focus on African Populations	5
NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long‐read sequencing	5
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
The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)	5
Dissecting the Genetic Affinity Between the Orang Asli and Southeast Asian Native Populations	5

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
Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina	4
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom	4
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Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High‐Altitude Adaptive Genetic Variants	3
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Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure	3
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype	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
Genetic portrait of the Amazonian communities of Peru and Bolivia: The legacy of the Takanan‐speaking people	3
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Exploring the Causal Link Between Systemic Lupus Erythematosus and Stroke Risk Through Mendelian Randomization Study	3
Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders	3
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Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study	3
Issue Information	3
Using Drosophila amyloid toxicity models to study Alzheimer's disease	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
An indel introduced by Neanderthal introgression, rs3835124:ATTTATT > ATT, might contribute to prostate cancer risk by regulating PDK1 expression	2
Association of blood lipid profiles and asthma: A bidirectional two‐sample Mendelian randomization study	2
Prevalence of the Main Human Genetic Variants Related to Resistance to Malaria in a Population of the Colombian Pacific Coast	2
NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity	2
Professor David Hopkinson (26 June 1935–22 March 2025). Former Editor‐in‐Chief of the Annals of Human Genetics ; in Memoriam Tribute	2
Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR	2
Methods for multiancestry genome‐wide association study meta‐analysis	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
Genetic polymorphism and variability in the Guangdong Hakka, Teochew, and Cantonese groups: A comprehensive analysis of 19 X‐STRs	2
The Promise and Challenges of Genomics for Patients and Families Affected by Rare Conditions	2
Opportunities and Challenges of Population Pharmacogenomics	2
Identification of PSMA4 as a Therapeutic Target for Atherosclerosis: A Comprehensive Multiomics Mendelian Randomization Analysis	2
A de novo low‐frequency mosaic variant of KIF1A causes hereditary spastic paraplegia: A literature review	2
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
The Centenary Special Issue of the Annals of Human Genetics	2
Issue Information	1
The Fortunes of Genomic Medicine: A Quarter Century of Promise	1
Multimarker omnibus tests by leveraging individual marker summary statistics from large biobanks	1
Genotype and Haplotype Analysis With In Silico Prediction of TMPRSS2 Gene in Jordanian Population	1
First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC)	1
Bidirectional Mendelian Randomization Study: Unraveling the Link Between Idiopathic Pulmonary Fibrosis and Cardiovascular Disease	1
Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia	1
Causal effect of severe and non‐severe malaria on dyslipidemia in African Ancestry individuals: A Mendelian randomization study	1
Issue Information	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
Exploring and Expanding Secondary Findings Through Exome Sequencing in the Turkish Population	1

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Automated Evaluation of D‐Score for Facial Dysmorphism Analysis in Central African Children With Developmental Disorders	1
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Identification of key variants correlated with susceptibility of primary osteoporosis in the Chinese Han group	1
Genetic Determinants of the Familial Hypercholesterolaemia Phenotype	1
Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP	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
Histone modification: Biomarkers and potential therapies in colorectal cancer	1
Clinical and immunological features of four patients with activation‐induced cytidine deaminase deficiency: Renal amyloidosis and other presentations	1
Effects of BRCA variation on prognosis in patients with nonmetastatic breast cancer	1
Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting	1
Identifying a Genetic Link Between Lung Function and Psoriasis	1
Genetic variations in CYP2A6, CYP2E1, GSTM1, GSTT1 genes and the risk of Nasopharyngeal carcinoma in North African population	1
Issue Information	1
Secondary findings in 443 exome sequencing data	1
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Pitfalls of predicting age‐related traits by polygenic risk scores	1
Genetic Diversity and Historical Divergence of Malays and Indigenous Populations in Peninsular Malaysia and Northern Borneo	1
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A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics	1
First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants	1
The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual Disability	1