Human Genetics

Article	Citations
Editorial to special issue on Ethics in Genetics	91
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	84
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	69
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	69
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	65
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research	61
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus	53
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	49
An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia	48
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	48
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	48
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder	46
Interpretable machine learning for genomics	45
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	45
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	42
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	41
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy	37
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	35
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species	34
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity	34
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	34
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37	34
Correction to: Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys	31
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection	31
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice	30

The obesity-related mutation gene on nonalcoholic fatty liver disease	30
Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide	27
Monogenic causes of pigmentary mosaicism	27
The fetus in the age of the genome	27
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study	26
The clinical utility of exome and genome sequencing across clinical indications: a systematic review	26
Compensatory epistasis explored by molecular dynamics simulations	26
Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective	26
Association of CXCR6 with COVID-19 severity: delineating the host genetic factors in transcriptomic regulation	24
The promise of automated machine learning for the genetic analysis of complex traits	24
Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review	24
Human organoids for rapid validation of gene variants linked to cochlear malformations	24
Hearing loss in Africa: current genetic profile	24
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	23
Unraveling phenotypic variance in metabolic syndrome through multi-omics	23
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment	21
The hearing-impaired patient: what the future holds	21
Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry	21
Phenotypic and genetic effect of carotid intima-media thickness on the risk of stroke	21
Characterization of intermediate-sized insertions using whole-genome sequencing data and analysis of their functional impact on gene expression	21
Cross-ancestry genetic architecture and prediction for cholesterol traits	20
Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine	20
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome	18
lncRNA CDKN2B-AS1 regulates collagen expression	18
Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding	18
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation	18
FOXM1 c.1205 C > A mutation is associated with unilateral Moyamoya disease and inhibits angiogenesis in human brain endothelial cells	18
Genome-wide assessment of shared genetic landscape of idiopathic pulmonary fibrosis and its comorbidities	18
Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis	17
Genomics and inclusion of Indigenous peoples in high income countries	17
Evaluating marginal genetic correlation of associated loci for complex diseases and traits between European and East Asian populations	17
Comprehensive analysis of microsatellite polymorphisms in human populations	17
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases	17
What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics	17
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant	16
Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders	16
Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci	16
A novel 193-plex MPS panel integrating STRs and SNPs highlights the application value of forensic genetics in individual identification and paternity testing	16
GATA4 and estrogen receptor alpha bind at SNPs rs9921222 and rs10794639 to regulate AXIN1 expression in osteoblasts	16
Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation	16
Secondary findings in hereditary cancer genes after germline genetic testing – systematic review of literature	16
Hearing loss and tinnitus: association studies for complex-hearing disorders in mouse and man	16
Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches	16
Congenital enteropathy caused by ezrin deficiency	16
Should we respect parents’ views about which results to return from genomic sequencing?	15
AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss	15
BMP3 is a novel locus involved in the causality of ocular coloboma	15
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss	15
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
Restriction enzyme selection dictates detection range sensitivity in chromatin conformation capture-based variant-to-gene mapping approaches	15

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene	14
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients	14
Ethical considerations in gene selection for reproductive carrier screening	14
Publisher Correction: Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage	14
Predicting functional consequences of mutations using molecular interaction network features	14
Retraction Note to: Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes	14
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2	14
Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations	14
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct	13
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants	13
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation	13
Signatures of genetic variation in human microRNAs point to processes of positive selection and population-specific disease risks	13
Toward a comprehensive catalog of regulatory elements	13
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries	13
Transcriptomic reprogramming for neuronal age reversal	13
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure	13
Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges	13
The genetics of non-monogenic IBD	12
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes	12
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis	12
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future	12
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila	12
What is so complicated about prenatal testing for Down syndrome? A personal view	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
Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs	12
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair	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
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation	11
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations	11
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss	11
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants	10
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores	10
Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity	10
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation	10
Radiographical Survey of Osteochondrodysplasia in Scottish Fold Cats caused by the TRPV4 gene variant	10
Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci	10
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males	10
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects	10
oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids	10
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions	10
Advances in long-read single-cell transcriptomics	10
Collagen transport and related pathways in Osteogenesis Imperfecta	10
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia	10
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges	10
An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance	10
Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss	9
Chromatinopathies – from discovery to clinical diagnosis in the real world	9
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency	9
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans	9
Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders	9
The genetics of monogenic intestinal epithelial disorders	9
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development	9
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate	9
Recontacting in medical genetics: the implications of a broadening knowledge base	9
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects	9
Structure-informed protein language models are robust predictors for variant effects	8
Cellular senescence and neurodegeneration	8
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy	8
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration	8
PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner	8
An emerging link between lncRNAs and cancer sex dimorphism	8
A methodology for gene level omics-WAS integration identifies genes influencing traits associated with cardiovascular risks: the Long Life Family Study	8
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility	8
Evidence that geographic variation in genetic ancestry associates with uterine fibroids	8
Mitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants	8
Predicting ExWAS findings from GWAS data: a shorter path to causal genes	8
Embeddings from protein language models predict conservation and variant effects	8
Great expectations: patients’ preferences for clinically significant results from genomic sequencing	8
GBF1 deficiency causes cataracts in human and mouse	8
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism	8
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders	8
Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context	8
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility	8
A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia	8
Investigating the tissue specificity and prognostic impact of cis-regulatory cancer risk variants	8
Using comprehensive genomic and functional analyses for resolving genotype–phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study	8
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies	8
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype	8
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study	7

SNP characteristics and validation success in genome wide association studies	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
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation	7
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities	7
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases	7
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism	7
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes	7
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon	7
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review	7
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster	7
Regulation potential of transcribed simple repeated sequences in developing neurons	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
A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome	7
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins	7
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues	7
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity	7
Critical assessment of missense variant effect predictors on disease-relevant variant data	6
Publisher Correction: Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations	6
Dissecting the genetic history of the Roman Catholic populations of West Coast India	6
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder	6
The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease	6
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia	6
The potential application of organoids in breast cancer research and treatment	6
Genotype imputation in case-only studies of gene-environment interaction: validity and power	6
STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation	6
The exocyst complex in neurological disorders	6
Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin	6
Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism	6
Disease-associated human genetic variation through the lens of precursor and mature RNA structure	6
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis	6
Automatized detection of uniparental disomies in a large cohort	6
Retrospective studies and quantitative proteomics reveal that abnormal expression of blood pressure, blood lipids, and coagulation related proteins is associated with hypospadias	6
Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene	6
Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects	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
CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a−) variant	5
Variations in mitochondrial DNA coding and d-loop region are associated with early embryonic development defects in infertile women	5
The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis	5
Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys	5
Pharmacogenomics: the low-hanging fruit in the personalized medicine tree	5
The omics era: a nexus of untapped potential for Mendelian chromatinopathies	5
In the family: access to, and communication of, familial information in clinical practice	5
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project	5
Screening copy number variations in 35 unsolved inherited retinal disease families	5
Predicting genes from phenotypes using human phenotype ontology (HPO) terms	5
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease	5
Deafness-in-a-dish: modeling hereditary deafness with inner ear organoids	5
Differential fates of introns in gene expression due to global alternative splicing	5
Interpreting the actionable clinical role of rare variants associated with short QT syndrome	5
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation	5
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project	5
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis	5
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features	5
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy	5
Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer	5
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome	5
Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health	5
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis	5
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility	5
Use of whole genome analysis to identify shared genomic variants across breeds in canine mitral valve disease	5
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant	4
Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans	4
A founder DBR1 variant causes a lethal form of congenital ichthyosis	4
Genetic hearing loss: the audiologist’s perspective	4
Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan	4
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes	4
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review	4
Trisomy silencing by XIST: translational prospects and challenges	4
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping	4
Genetic etiology of hearing loss in Iran	4
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings	4
Clinical and genome-wide association analysis of chemoradiation-induced hearing loss in nasopharyngeal carcinoma	4
ZNF668 deficiency causes a recognizable disorder of DNA damage repair	4
Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns	4
Methodologies underpinning polygenic risk scores estimation: a comprehensive overview	4
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss	4
Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans	4
Evolutionary history of type II transmembrane serine proteases involved in viral priming	4
ADGB variants cause asthenozoospermia and male infertility	4
Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases	4
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing	4
Through 40,000 years of human presence in Southern Europe: the Italian case study	4
From collected stamps to hair locks: ethical and legal implications of testing DNA found on privately owned family artifacts	4
The heritability of vocal tract structures estimated from structural MRI in a large cohort of Dutch twins	4
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant	4
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss	4
Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk	4
Variant effect predictors: a systematic review and practical guide	4
An effector index to predict target genes at GWAS loci	4
Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology	4
Global dysregulation of circular RNAs in frontal cortex and whole blood from DM1 and DM2	4
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene	4
Healthcare professionals’ perspectives on and experiences with non-invasive prenatal testing: a systematic review	4
Fine mapping of candidate effector genes for heart rate	4