Annals of Human Genetics

Article	Citations
Mini‐review: Role of the PI3K/Akt pathway and tyrosine phosphatases in Alzheimer's disease susceptibility	23
Interaction between the genetic variant of rs696217‐ghrelin and food intake and obesity and dyslipidemia	17
An epigenome‐wide DNA methylation study of patients with COVID‐19	15
Histone modification: Biomarkers and potential therapies in colorectal cancer	11
H‐MAGMA, inheriting a shaky statistical foundation, yields excess false positives	11
PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India	8
Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and H‐type hypertension: A systematic review and meta‐analysis	8
Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder	7
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy	7
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing	7
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature	6
A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness	6
Uncovering cilia function in glial development	6
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	6
A large‐scale genetic correlation scan between rheumatoid arthritis and human blood metabolites	6
Role of innate immune receptors TLR4 and TLR2 polymorphisms in systemic lupus erythematosus susceptibility	6
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients	5
An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families	5
Hydrops fetalis in PKD1L1‐related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum	5
Study of variants in genes implicated in rare familial migraine syndromes and their association with migraine in 200,000 exome‐sequenced UK Biobank participants	4
NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity	4
Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting	4
The genetic era of childhood cancer: Identification of high‐risk patients and germline sequencing approaches	4
External hydrocephalus as a prenatal feature of noonan syndrome	4
Expanding the clinico‐molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies	4

Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population	4
Using Drosophila amyloid toxicity models to study Alzheimer's disease	3
Atrioventricular canal defect is the classic congenital heart disease in Bardet–Biedl syndrome	3
Effect of high variation in transcript expression on identifying differentially expressed genes in RNA‐seq analysis	3
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants	3
The hazards of genotype imputation in chromosomal regions under selection: A case study using the Lactase gene region	3
Genetics background of β‐thalassemia (3.5 kb deletion) in Southern Thailand: Haplotype analysis using novel reverse dot blot hybridization	3
Reassessing the association of MUC5B with survival in idiopathic pulmonary fibrosis	3
Pitfalls of predicting age‐related traits by polygenic risk scores	3
An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease	3
Identification and functional study of genetic polymorphisms in cyclic nucleotide phosphodiesterase 3A (PDE3A)	3
Genetics of ataxia telangiectasia in a highly consanguineous population	3
Identification and analysis of genes associated with lung adenocarcinoma by integrated bioinformatics methods	3
Crosstalk between miR‐203 and PKCθ regulates breast cancer stem cell markers	3
DRD4 polymorphism associated with greater positive affect in response to negative and neutral social stimuli	3
The impact of obesity on lung function measurements and respiratory disease: A Mendelian randomization study	2
Development of molecular diagnostic platform for α0‐thalassemia 44.6 kb (Chiang Rai, ‐‐CR) deletion in individuals with microcytic red blood cells across Thailand	2
Identification of novel pleiotropic gene for bone mineral density and lean mass using the cFDR method	2
Identification of the β thalassemia allele β–50 and analysis of the hematology data of carriers in a southern Chinese population	2
Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia	2
Mutation spectrum of hereditary myopathies in Turkish patients and novel variants	2
Clinical application of prospective whole‐exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea	2
The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)	2
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	2
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	2
Genetic portrait of the Amazonian communities of Peru and Bolivia: The legacy of the Takanan‐speaking people	2
Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina	2
A comprehensive meta‐analysis to identify susceptibility genetic variants for precocious puberty	2
Association of blood lipid profiles and asthma: A bidirectional two‐sample Mendelian randomization study	2
High accuracy of single‐molecule real‐time sequencing in detecting a rare α‐globin fusion gene in carrier screening population	2
Gene‐based association analysis identified a novel gene associated with systemic lupus erythematosus	2
Genetic polymorphism and variability in the Guangdong Hakka, Teochew, and Cantonese groups: A comprehensive analysis of 19 X‐STRs	1
Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study	1
Nonsense suppression induces read‐through of a novel BMPR1A variant in a Chinese family with hereditary colorectal cancer	1
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum	1
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom	1
A splice site variant inTCTN3underlies an atypical form of orofaciodigital syndrome IV	1
Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation	1
No significant association between SNPs in the CLOCK and ADH4 genes and susceptibility to cluster headaches: A systematic review and meta‐analysis	1
Population structure and relatedness estimates in a Mexican sample	1
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	1
Genetic and environmental correlational structure among metabolic syndrome endophenotypes	1
CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population	1
Association between cholelithiasis, cholecystectomy, and risk of breast and gynecological cancers: Evidence from meta‐analysis and Mendelian randomization study	1
Population stratification correction using Bayesian shrinkage priors for genetic association studies	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
The effect of TRIM5 variants on the susceptibility to HIV‐1 infection and disease progression in the Polish population	1
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure	1
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	1
Proteome changes in autosomal recessive primary microcephaly	1

Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit	1
Functions of cilia in cardiac development and disease	1
Using the Bayesian variational spike and slab model in a genome‐wide association study for finding associated loci with bipolar disorder	0
Response to Letter to the Editor: “Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet–Biedl syndrome”	0
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The expression of NOTUM in replantation of severed fingers may be an important treatment factor	0
Segregation analysis identifies specific alpha‐defensin (DEFA1A3) SNP–CNV haplotypes in predisposition to IgA nephropathy	0
Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering	0
Application of real‐time PCR–based multicolor melting curve with automatic analysis system in pregestational and prenatal thalassemia diagnoses	0
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Using potential variable to study gene–gene and gene–environment interaction effects with genetic model uncertainty	0
Identification of key variants correlated with susceptibility of primary osteoporosis in the Chinese Han group	0
Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome	0
Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia	0
Genetically predicted retinal vascular occlusion in relation to cardiovascular diseases: A bidirectional two‐sample Mendelian randomization analysis	0
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Effects of BRCA variation on prognosis in patients with nonmetastatic breast cancer	0
A comprehensive review of HVS‐I mitochondrial DNA variation of 19 Iranian populations	0
Cilia function and dysfunction	0
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First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants	0
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Cover Image, Volume 87, Issue 1–2	0
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Causal effect of severe and non‐severe malaria on dyslipidemia in African Ancestry individuals: A Mendelian randomization study	0
Association of common BRCA1 variants with predisposition to breast tumors in Pakistan	0
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology	0
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Investigation of the association between the Toll‐like receptor 1 rs4833095 variation and gastric adenocarcinoma recurrence	0
Ursula Mittwoch: Pioneering geneticist who solved the riddle of sexes	0
Exploring the clinical significance of miR‐148 expression variations in distinct subtypes of irritable bowel syndrome	0
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Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene	0
Spinocerebellar ataxia type 10 and Huntington disease‐like 2 in Venezuela: Further evidence of two different ancestral founder effects	0
Insights into gene tissue specificity and protein–protein interactions in the context of purifying selection in humans	0
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Traces of Bronze Age globalization in East Asia: Insights from a revised phylogeography of the Y‐chromosome haplogroup Q1a1a‐M120	0
Genetic architecture of adiposity measures among Asians: Findings from GWAS	0
Estimation of genetic heritabilities of human traits in case–control studies	0
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Multimarker omnibus tests by leveraging individual marker summary statistics from large biobanks	0
Population‐genetic and comparative interpopulation studies of the 15 autosomal STR markers in the population living in the Northwest of Iran	0
A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome	0
Genetic variations in CYP2A6, CYP2E1, GSTM1, GSTT1 genes and the risk of Nasopharyngeal carcinoma in North African population	0
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ABCA1 variant rs9282541 is associated with metabolic syndrome in Maya children	0
An indel introduced by Neanderthal introgression, rs3835124:ATTTATT > ATT, might contribute to prostate cancer risk by regulating PDK1 expression	0
Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR	0
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NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long‐read sequencing	0
A historical perspective on Lionel Penrose: Scientist, geneticist and dedicated opponent of eugenics	0
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The role of next‐generation sequencing in the examination of signaling genes in Brca1/2‐negative breast cancer cases	0
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The molecular basis of lactase persistence: Linking genetics and epigenetics	0
The dawn of a cure for sickle cell disease through CRISPR‐based treatment: A critical test of equity in public health genomics	0
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DYNC2H1 splicing variants causing severe prenatal short‐rib polydactyly syndrome and postnatal orofaciodigital syndrome	0
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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	0
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A de novo low‐frequency mosaic variant of KIF1A causes hereditary spastic paraplegia: A literature review	0
Investigating the effectiveness of forensic genetics and population genetic diversity using a multi‐InDel system in Chinese Hezhou and Southern Shaanxi Han populations	0
A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences	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
Cover Image, Volume 88, Issue 1	0
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Heritability and genetic correlations of obesity indices and cardiometabolic traits in the Northern Chinese families	0
The systematic identification of survival‐related alternative splicing events and splicing factors in glioblastoma	0
Deleted genes associated with obesity in Mexican patients diagnosed with nonalcoholic fatty liver disease	0
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Identification of influential rare variants in aggregate testing using random forest importance measures	0
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Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients	0
Epithelial–mesenchymal transition dysregulation in prostate cancer: Insights from molecular unraveling and epidemiological analyses in Tunisia, North Africa	0
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Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype	0
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Isocitrate dehydrogenase 1 gene variants analysis of glioma patients from Pakistan	0
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A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss	0
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Attitude toward personal genomics: A nation‐wide survey of public and professionals in Pakistan	0
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Methods for multiancestry genome‐wide association study meta‐analysis	0
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Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP	0
Need of the hour? Genetic and genomic testing referrals from primary healthcare centers with inclusion of precision medicine in Pakistan	0
Attention‐deficit/hyperactivity disorder and dopamine receptor D4 (DRD4) exon 3 variable number of tandem repeats (VNTR) 2‐repeat allele	0
Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data	0