Annals of Human Genetics

Article	Citations
Mini‐review: Role of the PI3K/Akt pathway and tyrosine phosphatases in Alzheimer's disease susceptibility	18
A role for the MEGF6 gene in predisposition to osteoporosis	15
Interaction between the genetic variant of rs696217‐ghrelin and food intake and obesity and dyslipidemia	13
NCAPH is upregulated in endometrial cancer and associated with poor clinicopathologic characteristics	13
An epigenome‐wide DNA methylation study of patients with COVID‐19	13
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes	11
H‐MAGMA, inheriting a shaky statistical foundation, yields excess false positives	10
Association of variants inPTPN22,CTLA‐4,IL2‐RA, andINSgenes with type 1 diabetes in Emiratis	8
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?	7
Carrier frequency of CFTR variants in the non‐Caucasian populations by genome aggregation database (gnomAD)‐based analysis	7
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing	7
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
Prenatal diagnosis of Miller–Dieker syndrome by chromosomal microarray	6
Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and H‐type hypertension: A systematic review and meta‐analysis	6
Differential mutational profiles of familial Mediterranean fever in North Africa	6
Lack of association between the GNB3 rs5443, HIF1A rs11549465 polymorphisms, physiological and functional characteristics	6
Hydrops fetalis in PKD1L1‐related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum	5
PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India	5
Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients	5
Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder	5
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy	5
Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature	5
An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families	5
Histone modification: Biomarkers and potential therapies in colorectal cancer	4
Genomic testing and counseling: The contribution of next‐generation sequencing to epilepsy genetics	4

External hydrocephalus as a prenatal feature of noonan syndrome	4
Role of innate immune receptors TLR4 and TLR2 polymorphisms in systemic lupus erythematosus susceptibility	4
NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity	4
Identification and functional characterization of CYP4V2 genetic variants exhibiting decreased activity of lauric acid metabolism	4
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients	4
Genetics of ataxia telangiectasia in a highly consanguineous population	4
Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing	4
RT‐PCR analysis of mRNA revealed the splice‐altering effect of rare intronic variants in monogenic disorders	3
Study of variants in genes implicated in rare familial migraine syndromes and their association with migraine in 200,000 exome‐sequenced UK Biobank participants	3
A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness	3
Identification and analysis of genes associated with lung adenocarcinoma by integrated bioinformatics methods	3
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants	3
An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease	3
The role of WNT1 mutant variant (WNT1c.677C>T) in osteogenesis imperfecta	3
Identification and functional study of genetic polymorphisms in cyclic nucleotide phosphodiesterase 3A (PDE3A)	3
Genetics background of β‐thalassemia (3.5 kb deletion) in Southern Thailand: Haplotype analysis using novel reverse dot blot hybridization	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 hazards of genotype imputation in chromosomal regions under selection: A case study using the Lactase gene region	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
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	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
Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting	2
Expanding the clinico‐molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies	2
Identification of the β thalassemia allele β–50 and analysis of the hematology data of carriers in a southern Chinese population	2
Reassessing the association of MUC5B with survival in idiopathic pulmonary fibrosis	2
Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina	2
Identification of novel pleiotropic gene for bone mineral density and lean mass using the cFDR method	2
Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population	2
Gene‐based association analysis identified a novel gene associated with systemic lupus erythematosus	2
A large‐scale genetic correlation scan between rheumatoid arthritis and human blood metabolites	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
Genotype concordance and polygenic risk score estimation across consumer genetic testing data	1
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom	1
Proteome changes in autosomal recessive primary microcephaly	1
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A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV	1
No significant association between SNPs in the CLOCK and ADH4 genes and susceptibility to cluster headaches: A systematic review and meta‐analysis	1
Genetic portrait of the Amazonian communities of Peru and Bolivia: The legacy of the Takanan‐speaking people	1
Pitfalls of predicting age‐related traits by polygenic risk scores	1
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Uncovering cilia function in glial development	1
Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation	1
Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit	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
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum	1
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database	1

Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey	1
Population stratification correction using Bayesian shrinkage priors for genetic association studies	1
Genotyping complex structural variation at the malaria‐associated human glycophorin locus using a PCR‐based strategy	1
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	1
High accuracy of single‐molecule real‐time sequencing in detecting a rare α‐globin fusion gene in carrier screening population	1
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Cilia function and dysfunction	0
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Association of blood lipid profiles and asthma: A bidirectional two‐sample Mendelian randomization study	0
Attitude toward personal genomics: A nation‐wide survey of public and professionals in Pakistan	0
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The genetic era of childhood cancer: Identification of high‐risk patients and germline sequencing approaches	0
Ursula Mittwoch: Pioneering geneticist who solved the riddle of sexes	0
Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP	0
The role of next‐generation sequencing in the examination of signaling genes in Brca1/2‐negative breast cancer cases	0
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Association of common BRCA1 variants with predisposition to breast tumors in Pakistan	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
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene	0
A de novo low‐frequency mosaic variant of KIF1A causes hereditary spastic paraplegia: A literature review	0
Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR	0
Insights into gene tissue specificity and protein–protein interactions in the context of purifying selection in humans	0
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ABCA1 variant rs9282541 is associated with metabolic syndrome in Maya children	0
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Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype	0
Genetic architecture of adiposity measures among Asians: Findings from GWAS	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
The prevalence and linkage disequilibrium of 21 genetic variations related to thrombophilia, folate cycle, and hypertension in reproductive age women of Rostov region (Russia)	0
Causal effect of severe and non‐severe malaria on dyslipidemia in African Ancestry individuals: A Mendelian randomization study	0
Using Drosophila amyloid toxicity models to study Alzheimer's disease	0
Genetically predicted retinal vascular occlusion in relation to cardiovascular diseases: A bidirectional two‐sample Mendelian randomization analysis	0
The systematic identification of survival‐related alternative splicing events and splicing factors in glioblastoma	0
A comprehensive review of HVS‐I mitochondrial DNA variation of 19 Iranian populations	0
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The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)	0
Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study	0
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Identification of key variants correlated with susceptibility of primary osteoporosis in the Chinese Han group	0
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Clinical application of prospective whole‐exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea	0
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A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences	0
Segregation analysis identifies specific alpha‐defensin (DEFA1A3) SNP–CNV haplotypes in predisposition to IgA nephropathy	0
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure	0
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Investigation of the association between the Toll‐like receptor 1 rs4833095 variation and gastric adenocarcinoma recurrence	0
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Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data	0
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Using potential variable to study gene–gene and gene–environment interaction effects with genetic model uncertainty	0
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Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome	0
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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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An indel introduced by Neanderthal introgression, rs3835124:ATTTATT > ATT, might contribute to prostate cancer risk by regulating PDK1 expression	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
Functions of cilia in cardiac development and disease	0
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A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome	0

CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population	0
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology	0
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Genetic and environmental correlational structure among metabolic syndrome endophenotypes	0
Cover Image, Volume 87, Issue 1–2	0
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The expression of NOTUM in replantation of severed fingers may be an important treatment factor	0
Using the Bayesian variational spike and slab model in a genome‐wide association study for finding associated loci with bipolar disorder	0
Nonsense suppression induces read‐through of a novel BMPR1A variant in a Chinese family with hereditary colorectal cancer	0
Exploring the clinical significance of miR‐148 expression variations in distinct subtypes of irritable bowel syndrome	0
Genetic polymorphism and variability in the Guangdong Hakka, Teochew, and Cantonese groups: A comprehensive analysis of 19 X‐STRs	0
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Application of real‐time PCR–based multicolor melting curve with automatic analysis system in pregestational and prenatal thalassemia diagnoses	0
Estimation of genetic heritabilities of human traits in case–control studies	0
Isocitrate dehydrogenase 1 gene variants analysis of glioma patients from Pakistan	0
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Multimarker omnibus tests by leveraging individual marker summary statistics from large biobanks	0
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Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients	0
Review and research gap identification in genetics causes of syndromic and nonsyndromic hearing loss in Saudi Arabia	0
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss	0
The impact of obesity on lung function measurements and respiratory disease: A Mendelian randomization study	0
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A comprehensive meta‐analysis to identify susceptibility genetic variants for precocious puberty	0