Annals of Human Genetics

Article	Citations
A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome	21
ABCA1 variant rs9282541 is associated with metabolic syndrome in Maya children	18
Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering	14
Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations	12
Genetic Polymorphisms of 16 X‐STR Loci in the Yi Ethnic Minority of Chuxiong Yi Autonomous Prefecture in Yunnan Province in China	12
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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A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss	10
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology	10
Genetics of ataxia telangiectasia in a highly consanguineous population	9
Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia	9
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Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes	8
No significant association between SNPs in the CLOCK and ADH4 genes and susceptibility to cluster headaches: A systematic review and meta‐analysis	8
Using potential variable to study gene–gene and gene–environment interaction effects with genetic model uncertainty	7
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	7
Estimation of genetic heritabilities of human traits in case–control studies	7
Recent Statistical Innovations in Human Genetics	7
Using the Bayesian variational spike and slab model in a genome‐wide association study for finding associated loci with bipolar disorder	7
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Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genom	6
The role of next‐generation sequencing in the examination of signaling genes in Brca1/2‐negative breast cancer cases	6
Causal Effects of Inflammatory Cytokines on Urethral Stricture Disease: A Bidirectional Mendelian Randomization Study	6
The molecular basis of lactase persistence: Linking genetics and epigenetics	5
A comprehensive meta‐analysis to identify susceptibility genetic variants for precocious puberty	5

The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)	5
Population stratification correction using Bayesian shrinkage priors for genetic association studies	5
NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long‐read sequencing	5
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom	4
Dissecting the Genetic Affinity Between the Orang Asli and Southeast Asian Native Populations	4
Genetics and Genomics in Health and Disease: A Focus on African Populations	4
Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina	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
Development of molecular diagnostic platform for α0‐thalassemia 44.6 kb (Chiang Rai, ‐‐CR) deletion in individuals with microcytic red blood cells across Thailand	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
Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders	3
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Effect of high variation in transcript expression on identifying differentially expressed genes in RNA‐seq analysis	2
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Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and H‐type hypertension: A systematic review and meta‐analysis	2
Opportunities and Challenges of Population Pharmacogenomics	2
NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity	2
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure	2
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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	2
Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR	2
Identification of the β thalassemia allele β–50 and analysis of the hematology data of carriers in a southern Chinese population	2
Using Drosophila amyloid toxicity models to study Alzheimer's disease	2
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Genetic portrait of the Amazonian communities of Peru and Bolivia: The legacy of the Takanan‐speaking people	2
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The Promise and Challenges of Genomics for Patients and Families Affected by Rare Conditions	2
Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study	2
Genetic polymorphism and variability in the Guangdong Hakka, Teochew, and Cantonese groups: A comprehensive analysis of 19 X‐STRs	2
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature	1
A de novo low‐frequency mosaic variant of KIF1A causes hereditary spastic paraplegia: A literature review	1
A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences	1
CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population	1
Association of blood lipid profiles and asthma: A bidirectional two‐sample Mendelian randomization study	1
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Genetic Determinants of the Familial Hypercholesterolaemia Phenotype	1
PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India	1
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Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia	1
Genetic variations in CYP2A6, CYP2E1, GSTM1, GSTT1 genes and the risk of Nasopharyngeal carcinoma in North African population	1
The Fortunes of Genomic Medicine: A Quarter Century of Promise	1
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Methods for multiancestry genome‐wide association study meta‐analysis	1
Clinical and immunological features of four patients with activation‐induced cytidine deaminase deficiency: Renal amyloidosis and other presentations	1
Multimarker omnibus tests by leveraging individual marker summary statistics from large biobanks	1
A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics	1

Identifying a Genetic Link Between Lung Function and Psoriasis	1
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Expanding the LOXHD1 Mutational Spectrum: A North Indian Case of ARNSHL	1
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing	1
An indel introduced by Neanderthal introgression, rs3835124:ATTTATT > ATT, might contribute to prostate cancer risk by regulating PDK1 expression	1
A splice site variant inTCTN3underlies an atypical form of orofaciodigital syndrome IV	1
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First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC)	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
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Investigating the Effectiveness of Forensic Application and Population Genetic Diversity Using a Multi‐InDel System in Chinese Hezhou and Southern Shaanxi Han Populations	0
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The impact of obesity on lung function measurements and respiratory disease: A Mendelian randomization study	0
From Expert Judgment to Structured Guidelines: A Brief History and Bright Future of DNA Variant Interpretation	0
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Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population	0
Expanding the clinico‐molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies	0
Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit	0
A comprehensive review of HVS‐I mitochondrial DNA variation of 19 Iranian populations	0
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Functions of cilia in cardiac development and disease	0
Epithelial–mesenchymal transition dysregulation in prostate cancer: Insights from molecular unraveling and epidemiological analyses in Tunisia, North Africa	0
Genotype and Haplotype Analysis With In Silico Prediction of TMPRSS2 Gene in Jordanian Population	0
Causal Relationships Between Gastroesophageal Reflux Disease and Myocardial Infarction: Insights From Univariable and Multivariable Mendelian Randomization Analyses	0
The Genetics of Acne	0
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Interaction between the genetic variant of rs696217‐ghrelin and food intake and obesity and dyslipidemia	0
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Genetic and environmental correlational structure among metabolic syndrome endophenotypes	0
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First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants	0
Association of common BRCA1 variants with predisposition to breast tumors in Pakistan	0
Uncovering cilia function in glial development	0
Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting	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
Novel CTSA Variant Identified in a Thai Family With Late‐Infantile Galactosialidosis	0
Population‐genetic and comparative interpopulation studies of the 15 autosomal STR markers in the population living in the Northwest of Iran	0
Need of the hour? Genetic and genomic testing referrals from primary healthcare centers with inclusion of precision medicine in Pakistan	0
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene	0
Heritability and genetic correlations of obesity indices and cardiometabolic traits in the Northern Chinese families	0
AI‐Based Facial Dysmorphism Assessment in Diverse Populations: Advancements and Future Directions	0
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Identification of influential rare variants in aggregate testing using random forest importance measures	0
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The effect of TRIM5 variants on the susceptibility to HIV‐1 infection and disease progression in the Polish population	0
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Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome	0
Ursula Mittwoch: Pioneering geneticist who solved the riddle of sexes	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
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Reassessing the association of MUC5B with survival in idiopathic pulmonary fibrosis	0
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Gastroesophageal reflux disease increases predisposition to severe COVID‐19: Insights from integrated Mendelian randomization and genetic analysis	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
Cover Image, Volume 87, Issue 1–2	0
The dawn of a cure for sickle cell disease through CRISPR‐based treatment: A critical test of equity in public health genomics	0
Causal effect of severe and non‐severe malaria on dyslipidemia in African Ancestry individuals: A Mendelian randomization study	0
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Investigation of the association between the Toll‐like receptor 1 rs4833095 variation and gastric adenocarcinoma recurrence	0
Segregation analysis identifies specific alpha‐defensin (DEFA1A3) SNP–CNV haplotypes in predisposition to IgA nephropathy	0
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	0
Genetic architecture of adiposity measures among Asians: Findings from GWAS	0
Secondary findings in 443 exome sequencing data	0
A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness	0
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Significant Association Among the Epigenetic Alterations in EGFR and ALK Genes and Non–Small Cell Lung Cancer: A Prospective Emerging Molecular Biomarker	0
Automated Evaluation of D‐Score for Facial Dysmorphism Analysis in Central African Children With Developmental Disorders	0
Clinical Exome Sequencing Identifies, Two Homozygous LOXHD1 Variants in Two Inbred Families With Pre‐Lingual Hearing Loss From South India	0
Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data	0
The systematic identification of survival‐related alternative splicing events and splicing factors in glioblastoma	0
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Association between cholelithiasis, cholecystectomy, and risk of breast and gynecological cancers: Evidence from meta‐analysis and Mendelian randomization study	0
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Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP	0
Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients	0

Genetically predicted retinal vascular occlusion in relation to cardiovascular diseases: A bidirectional two‐sample Mendelian randomization analysis	0
Cilia function and dysfunction	0
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants	0
Insights into gene tissue specificity and protein–protein interactions in the context of purifying selection in humans	0
Traces of Bronze Age globalization in East Asia: Insights from a revised phylogeography of the Y‐chromosome haplogroup Q1a1a‐M120	0
Mendelian Randomization Identifies Putative Aging‐Related Causal Genes With Diagnostic Potential in Ulcerative Colitis	0
Identification of key variants correlated with susceptibility of primary osteoporosis in the Chinese Han group	0
Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2: Expanding phenotype and literature review	0
Nonsense suppression induces read‐through of a novel BMPR1A variant in a Chinese family with hereditary colorectal cancer	0
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The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum	0
Attention‐deficit/hyperactivity disorder and dopamine receptor D4 (DRD4) exon 3 variable number of tandem repeats (VNTR) 2‐repeat allele	0
Proteome changes in autosomal recessive primary microcephaly	0
Pitfalls of predicting age‐related traits by polygenic risk scores	0
Inherited Susceptibility to Cancer: Past, Present and Future	0
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH	0
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Novel SPTB Variations Cause Hereditary Spherocytosis With Cholangiolithiasis and Severe Intrahepatic Cholestasis	0
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The genetic era of childhood cancer: Identification of high‐risk patients and germline sequencing approaches	0
Exploring the clinical significance of miR‐148 expression variations in distinct subtypes of irritable bowel syndrome	0
Deleted genes associated with obesity in Mexican patients diagnosed with nonalcoholic fatty liver disease	0
The History of the Panmictic Population Concept and Its Legacy in Contemporary Population Genetics	0
Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation	0
Application of real‐time PCR–based multicolor melting curve with automatic analysis system in pregestational and prenatal thalassemia diagnoses	0
Exploring and Expanding Secondary Findings Through Exome Sequencing in the Turkish Population	0
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The expression of NOTUM in replantation of severed fingers may be an important treatment factor	0
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Effects of BRCA variation on prognosis in patients with nonmetastatic breast cancer	0
The hazards of genotype imputation in chromosomal regions under selection: A case study using the Lactase gene region	0
DYNC2H1 splicing variants causing severe prenatal short‐rib polydactyly syndrome and postnatal orofaciodigital syndrome	0
Role of innate immune receptors TLR4 and TLR2 polymorphisms in systemic lupus erythematosus susceptibility	0
DRD4 polymorphism associated with greater positive affect in response to negative and neutral social stimuli	0
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Spinocerebellar ataxia type 10 and Huntington disease‐like 2 in Venezuela: Further evidence of two different ancestral founder effects	0
Bidirectional Mendelian Randomization Study: Unraveling the Link Between Idiopathic Pulmonary Fibrosis and Cardiovascular Disease	0
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A large‐scale genetic correlation scan between rheumatoid arthritis and human blood metabolites	0
Histone modification: Biomarkers and potential therapies in colorectal cancer	0
Clinical application of prospective whole‐exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea	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
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