Human Genetics

Article	Citations
Genetic landscape of male infertility: chromosomal abnormalities and Y chromosome microdeletions in a Turkish cohort (1 314 Cases)	112
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	78
Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease	40
Partially connected neural networks for complex trait prediction: application to human height	38
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	37
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	37
Age estimation of single nucleotide polymorphisms associated with autoinflammatory diseases in anatolia: insights from ancient and modern DNA	34
Diet as a source of the non-direct genetic effects in metabolic traits: evidence from a family-based GWAS study	33
The 2023 clinical laboratory genetics workforce in the United States: trends, challenges, and evolving practices	32
Contrasting ancestry patterns inferred from Y chromosome and mitochondrial DNA in Nanjing people from southwestern China	32
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	30
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	30
Blending borders: reconstructing the genetic history of the Sindhi population	30
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	29
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	28
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	27
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	27
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study	22
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection	22
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity	22
The obesity-related mutation gene on nonalcoholic fatty liver disease	21
Tracing the genetic legacy of Altaic-speaking populations suggested long-distance migration and multi-source admixture shape the genomic diversity of Xibe and Daur	21
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species	21
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	21
Unraveling phenotypic variance in metabolic syndrome through multi-omics	20

MutAnt: mutation annotation tool predicts deleteriousness of missense mutations and improves mutation calling from transcriptomics	20
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37	20
Human organoids for rapid validation of gene variants linked to cochlear malformations	19
Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review	18
Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective	18
Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases	18
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibro	18
Phenotypic and genetic effect of carotid intima-media thickness on the risk of stroke	18
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome	17
Genomics and inclusion of Indigenous peoples in high income countries	16
Identification of DNA methylation based prognostic subtype and signature in epithelial ovarian cancer	16
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases	16
lncRNA CDKN2B-AS1 regulates collagen expression	16
FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells	16
Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding	16
Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation	15
Cross-ancestry genetic architecture and prediction for cholesterol traits	15
Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci	15
Comprehensive analysis of microsatellite polymorphisms in human populations	15
Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study	15
Congenital enteropathy caused by ezrin deficiency	14
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation	14
Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders	14
Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis	14
Genome-wide assessment of shared genetic landscape of idiopathic pulmonary fibrosis and its comorbidities	14
Analysis of blood-based DNA methylation signatures of aging and disease progression in inflammatory bowel disease	13
Transcriptomic reprogramming for neuronal age reversal	13
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2	13
A novel 193-plex MPS panel integrating STRs and SNPs highlights the application value of forensic genetics in individual identification and paternity testing	13
Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges	13
Toward a comprehensive catalog of regulatory elements	13
Secondary findings in hereditary cancer genes after germline genetic testing – systematic review of literature	13
Molecular features of AHDC1: insights into an overlooked gene with broad functional potential	13
Publisher Correction: Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage	13
Correction: A genomic tale of inbreeding in western Mediterranean human populations	12
Polygenic risk scores in healthcare contexts: what’s the scope? An interview study of European healthcare providers and researchers’ perspectives on ethical challenges	12
Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes	12
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants	12
Human YTHDC2 mutations disturb RNA homeostasis of oocytes and early embryos	12
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients	12
A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification	11
Genome-wide association and Mendelian randomization analysis provide insights into the shared genetic architecture between high-dimensional electrocardiographic features and ischemic heart disease	11
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss	11
Polygenic scores and physical fitness prediction: a systematic review	11
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct	11
The genetics of non-monogenic IBD	11
A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling	11
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila	11
Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs	11
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function	11

Advances in long-read single-cell transcriptomics	10
Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci	10
Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea	10
ScSpTITH: a rank-correlation framework for robust quantification of multi-dimensional tumor heterogeneity	10
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation	10
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations	10
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects	10
Identification of TACSTD2 as novel therapeutic targets for cisplatin-induced acute kidney injury by multi-omics data integration	10
Novel biallelic LSS variants in autosomal recessive hypotrichosis simplex: insights from a multi-omics approach	10
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects	10
Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders	9
DNA methylation signatures from peripheral blood revealed epigenetic alterations in Fanconi anemia	9
The genetics of monogenic intestinal epithelial disorders	9
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate	9
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia	9
oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids	9
An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance	9
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans	9
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development	9
Unfolding the genetic map of monogenic liver diseases in Egypt	9
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges	9
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency	9
AI in variant analysis: fast track to genetic diagnoses	9
Predicting ExWAS findings from GWAS data: a shorter path to causal genes	8
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration	8
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders	8
Structure-informed protein language models are robust predictors for variant effects	8
Evolution of the Japanese Y chromosome by analysis of the haplogroups and the deletion of the gene in the AZFc region	8
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility	8
Chromatinopathies – from discovery to clinical diagnosis in the real world	8
PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner	8
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility	8
Genetic differences between diagnosed and undiagnosed Celiac disease: a population-based study	8
Investigating the tissue specificity and prognostic impact of cis-regulatory cancer risk variants	8
ARHI as a key regulator of EMT and metastasis in pancreatic cancer via the Notch-1 pathway	8
Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context	8
Mitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants	8
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy	8
Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses	8
A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia	8
Cellular senescence and neurodegeneration	8
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins	7
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies	7
GBF1 deficiency causes cataracts in human and mouse	7
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster	7
Disentangling horizontal and vertical Pleiotropy in genetic correlation estimation: introducing the HVP model	7
Mosaic variants in the LIM homeobox 1 (LHX1) gene contribute to Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome	7
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia	7
A methodology for gene level omics-WAS integration identifies genes influencing traits associated with cardiovascular risks: the Long Life Family Study	7
PRP: pathogenic risk prediction for rare nonsynonymous single nucleotide variants	7
An emerging link between lncRNAs and cancer sex dimorphism	7
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism	7
Great expectations: patients’ preferences for clinically significant results from genomic sequencing	7
Using comprehensive genomic and functional analyses for resolving genotype–phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study	7
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon	6
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis	6
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes	6
STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation	6
High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients	6
Automatized detection of uniparental disomies in a large cohort	6
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues	6
​​Integrating machine learning and spatial transcriptomics uncovers shared immunomodulatory deubiquitinases in MAFLD and HCC	6
Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI–TOF–MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations	6
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities	6
The emerging sequence grammar of 3D genome organisation	6
Regulation potential of transcribed simple repeated sequences in developing neurons	6
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study	6
Genome-wide DNA methylation of lesional and peri-lesional skin in vitiligo: a comparative and integrated analysis of multi-omics in Chinese population	6
Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans	5
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis	5
Exploring mutation carriers’ preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study	5
The exocyst complex in neurological disorders	5
Publisher Correction: Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations	5
Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin	5
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage	5
Leveraging polygenic risk scores to infer causal directions in genotype-by-environment interactions between complex traits	5
APM-Related gene signature model to predict prognosis and immunotherapy response in hepatocellular carcinoma	5
Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer	5
Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism	5
Genome-wide association study identifies novel and confirms established loci associated with serum lipids levels in Brazilians	5

Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome	5
Critical assessment of missense variant effect predictors on disease-relevant variant data	5
The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease	5
Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory	5
Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression	5
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis	5
Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects	5
Retrospective studies and quantitative proteomics reveal that abnormal expression of blood pressure, blood lipids, and coagulation related proteins is associated with hypospadias	5
Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort	5
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder	5
Variations in mitochondrial DNA coding and d-loop region are associated with early embryonic development defects in infertile women	5
Screening copy number variations in 35 unsolved inherited retinal disease families	4
The involvement of TNFRSF25 in age-related hearing loss	4
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project	4
Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk	4
Interpreting the actionable clinical role of rare variants associated with short QT syndrome	4
Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns	4
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features	4
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project	4
Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations	4
ADGB variants cause asthenozoospermia and male infertility	4
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility	4
Trisomy silencing by XIST: translational prospects and challenges	4
Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans	4
The omics era: a nexus of untapped potential for Mendelian chromatinopathies	4
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade	4
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome	4
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes	4
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation	4
Variant effect predictors: a systematic review and practical guide	4
Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies	4
Re: “Next generation sequencing in neonatology: what does it mean for the next generation?”	3
Mutation-aware formulation: a genomic framework for equitable global dermocosmetics	3
Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans	3
Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases	3
Genetics and epigenetics of diabetes and its complications in India	3
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract	3
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder	3
Higher mitochondrial DNA methylation is associated with increased risk of stroke: a nested case-control study	3
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers	3
Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms	3
From collected stamps to hair locks: ethical and legal implications of testing DNA found on privately owned family artifacts	3
Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference	3
A founder DBR1 variant causes a lethal form of congenital ichthyosis	3
The genetic footprint of the European Roma diaspora: evidence from the Balkans to the Iberian Peninsula	3
Fine mapping of candidate effector genes for heart rate	3
Direct and indirect impact of SARS-CoV-2 on the brain	3
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections	3
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping	3
Deviations from additivity in APOE4-mediated late-onset Alzheimer’s disease risk across races and ethnicities	3
Development of a question prompt list to support Consent for Genomic Testing (CoGenT) and research	3
FBRSL1 regulates the expression of chromatin regulators BRPF1 and KAT6A	3
Is cross-border transfer of China’s human genetic data an impossible mission?	3
Genome-wide association study of Fuchs’ endothelial corneal dystrophy in the German population	3
Cockayne syndrome mutation in XPG activate the integrated stress response	3
Healthcare professionals’ perspectives on and experiences with non-invasive prenatal testing: a systematic review	3
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A	3
Profiling structural variations of the α-globin gene cluster by the single molecule real-time sequencing: remarkable diversity of the spectrum with rare and novel variants identified in a large Chines	3
Correction: Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies	3
Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism	3
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1	3
Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology	3
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly	3
Global dysregulation of circular RNAs in frontal cortex and whole blood from DM1 and DM2	3
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association	3
Clinical and genome-wide association analysis of chemoradiation-induced hearing loss in nasopharyngeal carcinoma	3
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project	3
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing	3
A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia	3
Methodologies underpinning polygenic risk scores estimation: a comprehensive overview	3
Mendelian randomization analysis and molecular mechanism study of childhood asthma and obstructive sleep apnea	3