Annals of Human Genetics

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
	14
Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes	14
	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
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
	8
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
Dissecting the Genetic Affinity Between the Orang Asli and Southeast Asian Native Populations	7
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
NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long‐read sequencing	6
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

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
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
	4
Issue Information	4
Genetics and Genomics in Health and Disease: A Focus on African Populations	4
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
	3
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
	3
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
Exploring the Causal Link Between Systemic Lupus Erythematosus and Stroke Risk Through Mendelian Randomization Study	3
	3
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
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
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
Identifying a Genetic Link Between Lung Function and Psoriasis	1
Genetic Determinants of the Familial Hypercholesterolaemia Phenotype	1
Effects of BRCA variation on prognosis in patients with nonmetastatic breast cancer	1
Identification of key variants correlated with susceptibility of primary osteoporosis in the Chinese Han group	1
	1
Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP	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
Multimarker omnibus tests by leveraging individual marker summary statistics from large biobanks	1
First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC)	1

Issue Information	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
Issue Information	1
Secondary findings in 443 exome sequencing data	1
The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual Disability	1
Pitfalls of predicting age‐related traits by polygenic risk scores	1
	1
Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting	1
Causal effect of severe and non‐severe malaria on dyslipidemia in African Ancestry individuals: A Mendelian randomization study	1
Automated Evaluation of D‐Score for Facial Dysmorphism Analysis in Central African Children With Developmental Disorders	1
Genetic Diversity and Historical Divergence of Malays and Indigenous Populations in Peninsular Malaysia and Northern Borneo	1
Issue Information	1
Genotype and Haplotype Analysis With In Silico Prediction of TMPRSS2 Gene in Jordanian Population	1
Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia	1
Issue Information	1
Bidirectional Mendelian Randomization Study: Unraveling the Link Between Idiopathic Pulmonary Fibrosis and Cardiovascular Disease	1
Histone modification: Biomarkers and potential therapies in colorectal cancer	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
	1
A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics	1
A Novel Biallelic REL Frameshift Variant p.(Tyr9Ilefs*2) Causing Immunodeficiency‐92 With Profound c‐Rel Deficiency	0
Association between cholelithiasis, cholecystectomy, and risk of breast and gynecological cancers: Evidence from meta‐analysis and Mendelian randomization study	0
Novel SPTB Variations Cause Hereditary Spherocytosis With Cholangiolithiasis and Severe Intrahepatic Cholestasis	0
Polygenic Risk Score for Cancer in African Population: A Systematic Review	0
Cover Image, Volume 88, Issue 1	0
	0
AI‐Based Facial Dysmorphism Assessment in Diverse Populations: Advancements and Future Directions	0
Genetic architecture of adiposity measures among Asians: Findings from GWAS	0
Segregation analysis identifies specific alpha‐defensin (DEFA1A3) SNP–CNV haplotypes in predisposition to IgA nephropathy	0
GR‐α and GR‐β mRNA levels in peripheral blood mononuclear cells of acute myelitis patients can assist in the identification of glucocorticoid sensitivity and are correlated with glucocorticoid therape	0
Issue Information	0
A Novel Variant of STAG1 Gene and Literature Review	0
Nonsense suppression induces read‐through of a novel BMPR1A variant in a Chinese family with hereditary colorectal cancer	0
The impact of obesity on lung function measurements and respiratory disease: A Mendelian randomization study	0
	0
Clinical Exome Sequencing Identifies, Two Homozygous LOXHD1 Variants in Two Inbred Families With Pre‐Lingual Hearing Loss From South India	0
	0
Heritability and genetic correlations of obesity indices and cardiometabolic traits in the Northern Chinese families	0
Reassessing the association of MUC5B with survival in idiopathic pulmonary fibrosis	0
	0
Potential Causal Association Between Follicle‐Stimulating Hormone and Alzheimer's Disease: Genetic Loci Study and Mendelian Randomization Study	0
Need of the hour? Genetic and genomic testing referrals from primary healthcare centers with inclusion of precision medicine in Pakistan	0
Proteome changes in autosomal recessive primary microcephaly	0
The effect of TRIM5 variants on the susceptibility to HIV‐1 infection and disease progression in the Polish population	0
Issue Information	0
Investigation of the association between the Toll‐like receptor 1 rs4833095 variation and gastric adenocarcinoma recurrence	0
Identification of influential rare variants in aggregate testing using random forest importance measures	0
	0
Issue Information	0
A comprehensive review of HVS‐I mitochondrial DNA variation of 19 Iranian populations	0
Study of variants in genes implicated in rare familial migraine syndromes and their association with migraine in 200,000 exome‐sequenced UK Biobank participants	0
Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome	0
A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness	0
Functions of cilia in cardiac development and disease	0
RETRACTED: Investigating the effectiveness of forensic genetics and population genetic diversity using a multi‐InDel system in Chinese Hezhou and Southern Shaanxi Han populations	0
Uncovering cilia function in glial development	0
	0
Population‐genetic and comparative interpopulation studies of the 15 autosomal STR markers in the population living in the Northwest of Iran	0
Cover Image, Volume 87, Issue 1–2	0
	0
	0
Application of real‐time PCR–based multicolor melting curve with automatic analysis system in pregestational and prenatal thalassemia diagnoses	0
Issue Information	0
	0
Issue Information	0
Hip Bone Marrow Adiposity as a Risk Factor for Alzheimer's Disease: Insights From Mendelian Randomization Analysis	0
Issue Information	0
Genetically predicted retinal vascular occlusion in relation to cardiovascular diseases: A bidirectional two‐sample Mendelian randomization analysis	0
Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data	0
Investigating the Effectiveness of Forensic Application and Population Genetic Diversity Using a Multi‐InDel System in Chinese Hezhou and Southern Shaanxi Han Populations	0
Epithelial–mesenchymal transition dysregulation in prostate cancer: Insights from molecular unraveling and epidemiological analyses in Tunisia, North Africa	0
Issue Information	0
From Expert Judgment to Structured Guidelines: A Brief History and Bright Future of DNA Variant Interpretation	0
	0
Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single‐Center Experience	0
DYNC2H1 splicing variants causing severe prenatal short‐rib polydactyly syndrome and postnatal orofaciodigital syndrome	0
Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2 : Expan	0
Power and Limitations of Inferring Genetic Ancestry	0
Association Between Different Types of Lipids and Alzheimer's Disease, Parkinson's Disease, and Epilepsy: A Mendelian Randomization and Bioinformatics Analysis	0

Genetic Determinants of Response to Neoadjuvant Chemoradiotherapy in Rectal Cancer Identified by Whole Exome Sequencing	0
CFAP74 Variants Could Cause Male Infertility With the Asthenoteratozoospermia Phenotype	0
The genetic era of childhood cancer: Identification of high‐risk patients and germline sequencing approaches	0
Genetic Insights Into Hypertension and Breast Cancer Risk in African Women: A Mendelian Randomization and Colocalization Analyses	0
The dawn of a cure for sickle cell disease through CRISPR‐based treatment: A critical test of equity in public health genomics	0
The Genetics of Acne	0
Gastroesophageal reflux disease increases predisposition to severe COVID‐19: Insights from integrated Mendelian randomization and genetic analysis	0
The expression of NOTUM in replantation of severed fingers may be an important treatment factor	0
	0
Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation	0
The History of the Panmictic Population Concept and Its Legacy in Contemporary Population Genetics	0
Cilia function and dysfunction	0
	0
The systematic identification of survival‐related alternative splicing events and splicing factors in glioblastoma	0
Mendelian Randomization Identifies Putative Aging‐Related Causal Genes With Diagnostic Potential in Ulcerative Colitis	0
Issue Information	0
Causal Relationships Between Gastroesophageal Reflux Disease and Myocardial Infarction: Insights From Univariable and Multivariable Mendelian Randomization Analyses	0
Issue Information	0
Exploring the clinical significance of miR‐148 expression variations in distinct subtypes of irritable bowel syndrome	0
Association of common BRCA1 variants with predisposition to breast tumors in Pakistan	0
Spinocerebellar ataxia type 10 and Huntington disease‐like 2 in Venezuela: Further evidence of two different ancestral founder effects	0
Novel CTSA Variant Identified in a Thai Family With Late‐Infantile Galactosialidosis	0
RETRACTION: Investigating the Effectiveness of Forensic Genetics and Population Genetic Diversity Using a Multi‐InDel System in Chinese Hezhou and Southern Shaanxi Han Populations	0
Insights into gene tissue specificity and protein–protein interactions in the context of purifying selection in humans	0
	0
Increased prevalence of the null allele of the p.Arg577Ter variant in the ACTN3 gene in Brazilian long‐distance athletes: A retrospective study	0
Attention‐deficit/hyperactivity disorder and dopamine receptor D4 (DRD4) exon 3 variable number of tandem repeats (VNTR) 2‐repeat allele	0
Issue Information	0
Traces of Bronze Age globalization in East Asia: Insights from a revised phylogeography of the Y‐chromosome haplogroup Q1a1a‐M120	0
Inherited Susceptibility to Cancer: Past, Present and Future	0
Clinical application of prospective whole‐exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea	0
Issue Information	0
Mitonuclear Discordance and Gout, Type 2 Diabetes and Chronic Kidney Disease in Aotearoa New Zealand Indigenous Māori and Pacific People	0
Issue Information	0
Issue Information	0
Significant Association Among the Epigenetic Alterations in EGFR and ALK Genes and Non–Small Cell Lung Cancer: A Prospective Emerging Molecular Biomarker	0
Identification and Functional Verification of Variants Associated With Clubfoot and Arthrogrypotic Hand Deformation in a Multigeneration Polish Family	0