Human Genetics

Article	Citations
Editorial to special issue on Ethics in Genetics	120
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	95
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	87
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	83
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	63
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	63
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	62
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants	58
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	57
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	56
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research	55
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	52
Diet as a source of the non-direct genetic effects in metabolic traits: evidence from a family-based GWAS study	35
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study	34
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	34
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species	32
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity	29
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37	28
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	28
Monogenic causes of pigmentary mosaicism	28
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice	27
The obesity-related mutation gene on nonalcoholic fatty liver disease	27
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection	26
Phenotypic and genetic effect of carotid intima-media thickness on the risk of stroke	25
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	25

Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective	24
The hearing-impaired patient: what the future holds	23
Human organoids for rapid validation of gene variants linked to cochlear malformations	23
Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review	23
Unraveling phenotypic variance in metabolic syndrome through multi-omics	22
Cross-ancestry genetic architecture and prediction for cholesterol traits	22
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome	20
FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells	19
Genome-wide assessment of shared genetic landscape of idiopathic pulmonary fibrosis and its comorbidities	19
Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding	19
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases	18
Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci	18
Comprehensive analysis of microsatellite polymorphisms in human populations	18
Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation	17
Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine	17
What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics	16
Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis	16
Genomics and inclusion of Indigenous peoples in high income countries	16
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation	16
lncRNA CDKN2B-AS1 regulates collagen expression	16
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss	15
Analysis of blood-based DNA methylation signatures of aging and disease progression in inflammatory bowel disease	15
Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders	15
Secondary findings in hereditary cancer genes after germline genetic testing – systematic review of literature	15
GATA4 and estrogen receptor alpha bind at SNPs rs9921222 and rs10794639 to regulate AXIN1 expression in osteoblasts	15
Publisher Correction: Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage	14
Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges	14
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients	14
Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches	14
Retraction Note to: Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes	14
Molecular features of AHDC1: insights into an overlooked gene with broad functional potential	14
A novel 193-plex MPS panel integrating STRs and SNPs highlights the application value of forensic genetics in individual identification and paternity testing	14
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation	14
Congenital enteropathy caused by ezrin deficiency	14
Polygenic risk scores in healthcare contexts: what’s the scope? An interview study of European healthcare providers and researchers’ perspectives on ethical challenges	14
BMP3 is a novel locus involved in the causality of ocular coloboma	13
Transcriptomic reprogramming for neuronal age reversal	13
Signatures of genetic variation in human microRNAs point to processes of positive selection and population-specific disease risks	13
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2	13
AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss	13
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants	13
Toward a comprehensive catalog of regulatory elements	13
Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs	12
Correction: A genomic tale of inbreeding in western Mediterranean human populations	12
The genetics of non-monogenic IBD	12
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct	12
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila	12
Genome-wide association and Mendelian randomization analysis provide insights into the shared genetic architecture between high-dimensional electrocardiographic features and ischemic heart disease	12
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis	12
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males	11

Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation	11
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss	11
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function	11
Identification of TACSTD2 as novel therapeutic targets for cisplatin-induced acute kidney injury by multi-omics data integration	11
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations	11
Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci	11
Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea	10
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency	10
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects	10
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects	10
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges	10
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants	10
Advances in long-read single-cell transcriptomics	10
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation	10
Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss	10
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair	10
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate	9
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development	9
oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids	9
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders	9
Mitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants	9
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy	9
An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance	9
The genetics of monogenic intestinal epithelial disorders	9
Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders	9
Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context	9
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility	9
Unfolding the genetic map of monogenic liver diseases in Egypt	9
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans	9
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia	9
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration	9
Chromatinopathies – from discovery to clinical diagnosis in the real world	9
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues	8
PRP: pathogenic risk prediction for rare nonsynonymous single nucleotide variants	8
GBF1 deficiency causes cataracts in human and mouse	8
Cellular senescence and neurodegeneration	8
PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner	8
Great expectations: patients’ preferences for clinically significant results from genomic sequencing	8
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism	8
Disentangling horizontal and vertical Pleiotropy in genetic correlation estimation: introducing the HVP model	8
A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome	8
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility	8
Predicting ExWAS findings from GWAS data: a shorter path to causal genes	8
A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia	8
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation	8
An emerging link between lncRNAs and cancer sex dimorphism	8
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia	8
Using comprehensive genomic and functional analyses for resolving genotype–phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study	8
Genetic differences between diagnosed and undiagnosed Celiac disease: a population-based study	8
Embeddings from protein language models predict conservation and variant effects	8
Structure-informed protein language models are robust predictors for variant effects	8
Investigating the tissue specificity and prognostic impact of cis-regulatory cancer risk variants	8
Evolution of the Japanese Y chromosome by analysis of the haplogroups and the deletion of the gene in the AZFc region	7
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis	7
Genome-wide DNA methylation of lesional and peri-lesional skin in vitiligo: a comparative and integrated analysis of multi-omics in Chinese population	7
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	7
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes	7
A methodology for gene level omics-WAS integration identifies genes influencing traits associated with cardiovascular risks: the Long Life Family Study	7
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins	7
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon	7
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study	7
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities	7
Critical assessment of missense variant effect predictors on disease-relevant variant data	7
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster	7
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies	7
SNP characteristics and validation success in genome wide association studies	7
Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome	7
The emerging sequence grammar of 3D genome organisation	7
STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation	7
APM-Related gene signature model to predict prognosis and immunotherapy response in hepatocellular carcinoma	6
Disease-associated human genetic variation through the lens of precursor and mature RNA structure	6
Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin	6
Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene	6
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage	6
Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort	6
Publisher Correction: Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations	6
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity	6
Automatized detection of uniparental disomies in a large cohort	6
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder	6
Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism	6

Retrospective studies and quantitative proteomics reveal that abnormal expression of blood pressure, blood lipids, and coagulation related proteins is associated with hypospadias	6
The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease	6
Regulation potential of transcribed simple repeated sequences in developing neurons	6
Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects	6
The exocyst complex in neurological disorders	6
Variations in mitochondrial DNA coding and d-loop region are associated with early embryonic development defects in infertile women	5
CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a−) variant	5
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis	5
Screening copy number variations in 35 unsolved inherited retinal disease families	5
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility	5
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease	5
Genomic and molecular evidence that the LncRNA DSP-AS1 modulates desmoplakin expression	5
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis	5
Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations	5
Exploring mutation carriers’ preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study	5
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome	5
The omics era: a nexus of untapped potential for Mendelian chromatinopathies	5
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project	5
Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer	5
Predicting genes from phenotypes using human phenotype ontology (HPO) terms	5
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features	5
Evolutionary history of type II transmembrane serine proteases involved in viral priming	5
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project	5
Differential fates of introns in gene expression due to global alternative splicing	5
Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans	5
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia	5
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes	4
Variant effect predictors: a systematic review and practical guide	4
Interpreting the actionable clinical role of rare variants associated with short QT syndrome	4
Genetic etiology of hearing loss in Iran	4
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant	4
Mutation-aware formulation: a genomic framework for equitable global dermocosmetics	4
Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases	4
Methodologies underpinning polygenic risk scores estimation: a comprehensive overview	4
Pharmacogenomics: the low-hanging fruit in the personalized medicine tree	4
An effector index to predict target genes at GWAS loci	4
Re: “Next generation sequencing in neonatology: what does it mean for the next generation?”	4
In the family: access to, and communication of, familial information in clinical practice	4
ADGB variants cause asthenozoospermia and male infertility	4
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review	4
Fine mapping of candidate effector genes for heart rate	4
A founder DBR1 variant causes a lethal form of congenital ichthyosis	4
Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology	4
Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans	4
Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans	4
Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk	4
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation	4
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections	4
The heritability of vocal tract structures estimated from structural MRI in a large cohort of Dutch twins	4
Clinical and genome-wide association analysis of chemoradiation-induced hearing loss in nasopharyngeal carcinoma	4
Direct and indirect impact of SARS-CoV-2 on the brain	4
Trisomy silencing by XIST: translational prospects and challenges	4
Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns	4