Human Genetics

Article	Citations
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting	346
The relationship between the gut microbiome and host gene expression: a review	80
Causal influences of neuroticism on mental health and cardiovascular disease	65
Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?	58
Embeddings from protein language models predict conservation and variant effects	52
The clinical utility of exome and genome sequencing across clinical indications: a systematic review	48
The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity?	47
Disease gene discovery in male infertility: past, present and future	47
Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance	43
Collagen transport and related pathways in Osteogenesis Imperfecta	42
Towards systematic nomenclature for cell-free DNA	39
Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis	38
Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants	37
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair	35
Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality	35
ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease	35
SZDB2.0: an updated comprehensive resource for schizophrenia research	34
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification	33
The microbiome, genetics, and gastrointestinal neoplasms: the evolving field of molecular pathological epidemiology to analyze the tumor–immune–microbiome interaction	32
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon	32
Combi-CRISPR: combination of NHEJ and HDR provides efficient and precise plasmid-based knock-ins in mice and rats	31
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review	30
Multi-omics highlights ABO plasma protein as a causal risk factor for COVID-19	30
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia	30
Association of CXCR6 with COVID-19 severity: delineating the host genetic factors in transcriptomic regulation	29

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	29
A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse	28
Evolutionary and population (epi)genetics of immunity to infection	28
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation	28
Low-pass genome sequencing: a validated method in clinical cytogenetics	27
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss	26
Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease	26
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure	25
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients	25
Genome interpretation using in silico predictors of variant impact	25
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect	24
An effector index to predict target genes at GWAS loci	24
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis	23
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix	23
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss	22
Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia	22
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player	22
Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin	22
Genetic etiology of non-syndromic hearing loss in Europe	22
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland	22
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity	21
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse	20
Rare variant association testing in the non-coding genome	20
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome	20
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis	20
Genetic evidence suggests a sense of family, parity and conquest in the Xiongnu Iron Age nomads of Mongolia	20
Interpretable machine learning for genomics	20
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, T	19
Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects	19
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2	18
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder	18
What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics	18
Resolving misalignment interference for NGS-based clinical diagnostics	17
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease	17
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy	17
Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus	17
Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health	16
The shared genetic architecture of schizophrenia, bipolar disorder and lifespan	16
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants	16
Genetic innovations and our understanding of stillbirth	16
Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients	16
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome	15
A Southeast Asian origin for present-day non-African human Y chromosomes	15
Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease	15
Differential fates of introns in gene expression due to global alternative splicing	15
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum	15
ASTL is mutated in female infertility	15
Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis	15
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia	15
The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development	15

The population genetics characteristics of a 90 locus panel of microhaplotypes	15
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects	14
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans	14
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy	14
Systematic analysis to identify transcriptome-wide dysregulation of Alzheimer’s disease in genes and isoforms	13
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects	13
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions	13
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy	13
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy	13
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation	13
Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population	13
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss	13
PRNCR1: a long non-coding RNA with a pivotal oncogenic role in cancer	13
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss	13
Identifying adaptive alleles in the human genome: from selection mapping to functional validation	13
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores	12
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications	12
Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings	12
The promise of public health ethics for precision medicine: the case of newborn preventive genomic sequencing	12
Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update	12
Ethical considerations in gene selection for reproductive carrier screening	12
Evaluating marginal genetic correlation of associated loci for complex diseases and traits between European and East Asian populations	12
Alternative splicing in normal and pathological human placentas is correlated to genetic variants	12
Current challenges and opportunities for pharmacogenomics: perspective of the Industry Pharmacogenomics Working Group (I-PWG)	12
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism	12
Deciphering the complexity of simple chromosomal insertions by genome sequencing	12
Genome sequencing in families with congenital limb malformations	12
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders	12
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations	11
Identifying disease-causing mutations in genomes of single patients by computational approaches	11
Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity	11
Through 40,000 years of human presence in Southern Europe: the Italian case study	11
Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome	11
The genetics of monogenic intestinal epithelial disorders	11
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population	11
The potential application of organoids in breast cancer research and treatment	11
Central auditory deficits associated with genetic forms of peripheral deafness	11
Phenome-wide screening of GWAS data reveals the complex causal architecture of obesity	11
Next generation sequencing in neonatology: what does it mean for the next generation?	11
Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation	11
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes	10
Deafness-in-a-dish: modeling hereditary deafness with inner ear organoids	10
Comprehensive functional annotation of susceptibility variants associated with asthma	10
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings	10
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation	10
Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery	10
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	10
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update	10
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype	10
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth	10
Human genetic basis of fulminant viral hepatitis	10
Challenges in translational machine learning	10
Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans	9
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders	9
The promise of automated machine learning for the genetic analysis of complex traits	9
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases	9
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis	9
Evidence that geographic variation in genetic ancestry associates with uterine fibroids	9
Genetic algorithms identify individuals with high risk of severe liver disease caused by schistosomes	9
Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing	9
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus	9
SNP characteristics and validation success in genome wide association studies	9
Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies	9
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration	9
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome	9
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier	9
An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia	9
Minding the gap in HIV host genetics: opportunities and challenges	9
Predicting functional consequences of mutations using molecular interaction network features	8
Pharmacogenetics in developing countries and low resource environments	8
Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study	8
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males	8
Unintended CRISPR-Cas9 editing outcomes: a review of the detection and prevalence of structural variants generated by gene-editing in human cells	8
A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy	8
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East	8
Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate	8
The genetics of non-monogenic IBD	8
Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage	8
Interpretable generative deep learning: an illustration with single cell gene expression data	8
Human genetics of Buruli ulcer	8

Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations	8
The noncoding genome and hearing loss	8
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults	7
A network-based machine-learning framework to identify both functional modules and disease genes	7
Editorial for the special issue on the molecular genetics of male infertility	7
Two novel pleiotropic loci associated with osteoporosis and abdominal obesity	7
Disease-associated human genetic variation through the lens of precursor and mature RNA structure	7
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene	7
The role of the gut microbiome in graft fibrosis after pediatric liver transplantation	7
Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine	7
The molecular genetic basis of atrial fibrillation	7
Compensatory epistasis explored by molecular dynamics simulations	7
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes	7
ATR-X syndrome: genetics, clinical spectrum, and management	7
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	7
Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant	7
Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis	7
Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant	7
Evolutionary history of type II transmembrane serine proteases involved in viral priming	6
Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis	6
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss	6
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies	6
Investigating the shared genetic architecture and causal relationship between pain and neuropsychiatric disorders	6
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria	6
Genetic etiology of non-syndromic hearing loss in Latin America	6
Restriction enzyme selection dictates detection range sensitivity in chromatin conformation capture-based variant-to-gene mapping approaches	6
Common genetic risk factors in ASD and ADHD co-occurring families	6
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project	6
The omics era: a nexus of untapped potential for Mendelian chromatinopathies	6
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study	6
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study	6
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene	6
A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes	6
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant	6
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotype	6
AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss	6
Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys	6
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes	6
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease	6
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss	6
Geographic variation in the polygenic score of height in Japan	6
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase	6
Direct and indirect impact of SARS-CoV-2 on the brain	6
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation	6
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss	5
A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature	5
Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans	5
The genomic analysis of current-day North African populations reveals the existence of trans-Saharan migrations with different origins and dates	5
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development	5
Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide	5
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?	5
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation	5
Genome screening, reporting, and genetic counseling for healthy populations	5
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review	5
Cellular senescence and neurodegeneration	5
Hearing loss and tinnitus: association studies for complex-hearing disorders in mouse and man	5
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment	5
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1	5
Molecular genetic landscape of hereditary hearing loss in Pakistan	5
Genetic etiology of hearing loss in Iran	5
Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome	5
Population genetics: past, present, and future	5
GATA4 and estrogen receptor alpha bind at SNPs rs9921222 and rs10794639 to regulate AXIN1 expression in osteoblasts	5
A review of migraine genetics: gathering genomic and transcriptomic factors	5
Clinical characteristics and comorbidities of COVID-19 in unvaccinated patients with Down syndrome: first year report in Brazil	5
RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction	5
Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family	5
Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss	4
Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat	4
Advancing discovery in hearing research via biologist-friendly access to multi-omic data	4
Identification of novel genetic variants associated with short stature in a Baka Pygmies population	4
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome	4
Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss	4
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum	4
46,XY disorders of sex development: the use of NGS for prevalent variants	4
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	4
Gut microbiota in inflammatory bowel diseases: moving from basic science to clinical applications	4
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins	4
BMP3 is a novel locus involved in the causality of ocular coloboma	4
Intronic variant in POU1F1 associated with canine pituitary dwarfism	4
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation	4
ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy	4
Hearing loss in Africa: current genetic profile	4
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia	4
Dissecting the genetic history of the Roman Catholic populations of West Coast India	4
Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid	4
Admixture mapping identifies African and Amerindigenous local ancestry loci associated with fetal growth	4
Should we respect parents’ views about which results to return from genomic sequencing?	4
Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants	4
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis	4
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome	4
Recontacting in medical genetics: the implications of a broadening knowledge base	4
Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry	4
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function	4
The necdin interactome: evaluating the effects of amino acid substitutions and cell stress using proximity-dependent biotinylation (BioID) and mass spectrometry	4