Human Genetics

Article	Citations
The relationship between the gut microbiome and host gene expression: a review	97
Causal influences of neuroticism on mental health and cardiovascular disease	74
Embeddings from protein language models predict conservation and variant effects	67
The clinical utility of exome and genome sequencing across clinical indications: a systematic review	52
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair	51
Collagen transport and related pathways in Osteogenesis Imperfecta	51
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification	49
Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance	45
Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants	43
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	36
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients	36
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review	35
The microbiome, genetics, and gastrointestinal neoplasms: the evolving field of molecular pathological epidemiology to analyze the tumor–immune–microbiome interaction	35
Genetic etiology of non-syndromic hearing loss in Europe	34
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation	33
Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin	33
An effector index to predict target genes at GWAS loci	33
Genome interpretation using in silico predictors of variant impact	32
Multi-omics highlights ABO plasma protein as a causal risk factor for COVID-19	32
Association of CXCR6 with COVID-19 severity: delineating the host genetic factors in transcriptomic regulation	31
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia	31
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss	29
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse	28
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease	27
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss	27

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	26
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure	26
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity	25
What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics	25
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants	25
Unintended CRISPR-Cas9 editing outcomes: a review of the detection and prevalence of structural variants generated by gene-editing in human cells	24
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland	23
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder	23
Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health	22
Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia	22
Interpretable machine learning for genomics	22
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	20
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2	20
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation	20
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions	20
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders	19
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy	19
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum	18
ASTL is mutated in female infertility	18
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects	17
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy	17
The population genetics characteristics of a 90 locus panel of microhaplotypes	17
Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis	17
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome	17
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects	16
Differential fates of introns in gene expression due to global alternative splicing	16
The genetics of monogenic intestinal epithelial disorders	16
Systematic analysis to identify transcriptome-wide dysregulation of Alzheimer’s disease in genes and isoforms	15
PRNCR1: a long non-coding RNA with a pivotal oncogenic role in cancer	15
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans	15
Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity	15
Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome	15
Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery	14
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings	14
Ethical considerations in gene selection for reproductive carrier screening	14
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy	14
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update	14
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype	14
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	14
Current challenges and opportunities for pharmacogenomics: perspective of the Industry Pharmacogenomics Working Group (I-PWG)	14
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss	14
Restriction enzyme selection dictates detection range sensitivity in chromatin conformation capture-based variant-to-gene mapping approaches	14
Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans	13
The promise of public health ethics for precision medicine: the case of newborn preventive genomic sequencing	13
Challenges in translational machine learning	13
Central auditory deficits associated with genetic forms of peripheral deafness	13
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores	13
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes	13
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism	13
Phenome-wide screening of GWAS data reveals the complex causal architecture of obesity	12

Alternative splicing in normal and pathological human placentas is correlated to genetic variants	12
The potential application of organoids in breast cancer research and treatment	12
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus	12
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation	12
Genome sequencing in families with congenital limb malformations	12
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population	12
Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update	12
The noncoding genome and hearing loss	12
Cellular senescence and neurodegeneration	12
Evaluating marginal genetic correlation of associated loci for complex diseases and traits between European and East Asian populations	12
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	12
The genetics of non-monogenic IBD	12
Through 40,000 years of human presence in Southern Europe: the Italian case study	12
Interpretable generative deep learning: an illustration with single cell gene expression data	11
Deafness-in-a-dish: modeling hereditary deafness with inner ear organoids	11
Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation	11
Pharmacogenetics in developing countries and low resource environments	11
Next generation sequencing in neonatology: what does it mean for the next generation?	11
ATR-X syndrome: genetics, clinical spectrum, and management	11
The promise of automated machine learning for the genetic analysis of complex traits	11
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases	11
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?	10
An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia	10
A network-based machine-learning framework to identify both functional modules and disease genes	10
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	10
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier	10
Investigating the shared genetic architecture and causal relationship between pain and neuropsychiatric disorders	10
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis	10
Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies	10
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome	10
Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant	10
Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing	10
SNP characteristics and validation success in genome wide association studies	10
Evidence that geographic variation in genetic ancestry associates with uterine fibroids	10
Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis	10
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth	10
A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy	9
The genomic analysis of current-day North African populations reveals the existence of trans-Saharan migrations with different origins and dates	9
Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys	9
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease	9
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function	9
Common genetic risk factors in ASD and ADHD co-occurring families	9
Predicting functional consequences of mutations using molecular interaction network features	9
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration	9
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project	9
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency	9
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins	9
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins	9
The omics era: a nexus of untapped potential for Mendelian chromatinopathies	9
Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine	9
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males	9
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study	8
Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage	8
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes	8
Direct and indirect impact of SARS-CoV-2 on the brain	8
The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review	8
Large-scale pedigree analysis highlights rapidly mutating Y-chromosomal short tandem repeats for differentiating patrilineal relatives and predicting their degrees of consanguinity	8
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss	8
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase	8
AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss	8
Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis	8
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss	8
Genetic etiology of hearing loss in Iran	8
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant	8
ADGB variants cause asthenozoospermia and male infertility	8
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development	8
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review	7
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene	7
Evolutionary history of type II transmembrane serine proteases involved in viral priming	7
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study	7
Molecular genetic landscape of hereditary hearing loss in Pakistan	7
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene	7
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation	7
Toward a comprehensive catalog of regulatory elements	7
Editorial for the special issue on the molecular genetics of male infertility	7
Compensatory epistasis explored by molecular dynamics simulations	7
The exocyst complex in neurological disorders	7
Disease-associated human genetic variation through the lens of precursor and mature RNA structure	7
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	7
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults	7

A review of migraine genetics: gathering genomic and transcriptomic factors	7
46,XY disorders of sex development: the use of NGS for prevalent variants	7
Geographic variation in the polygenic score of height in Japan	7
Genetic etiology of non-syndromic hearing loss in Latin America	7
Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid	6
Admixture mapping identifies African and Amerindigenous local ancestry loci associated with fetal growth	6
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation	6
PIGF deficiency causes a phenotype overlapping with DOORS syndrome	6
The fetus in the age of the genome	6
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss	6
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria	6
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	6
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	6
GATA4 and estrogen receptor alpha bind at SNPs rs9921222 and rs10794639 to regulate AXIN1 expression in osteoblasts	6
Cross-trait analyses identify shared genetics between migraine, headache, and glycemic traits, and a causal relationship with fasting proinsulin	6
Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans	6
Addressing the dark matter of gene therapy: technical and ethical barriers to clinical application	6
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation	6
DNA methylation signatures for chromatinopathies: current challenges and future applications	6
Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family	6
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders	6
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes	6
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries	6
CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome	6
Signatures of genetic variation in human microRNAs point to processes of positive selection and population-specific disease risks	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
Transcriptomic reprogramming for neuronal age reversal	5
Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk	5
Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans	5
Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry	5
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1	5
Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss	5
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation	5
The matrilineal ancestry of Nepali populations	5
Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants	5
Hearing loss and tinnitus: association studies for complex-hearing disorders in mouse and man	5
Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss	5
Clinical characteristics and comorbidities of COVID-19 in unvaccinated patients with Down syndrome: first year report in Brazil	5
Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide	5
Migraine, chronic kidney disease and kidney function: observational and genetic analyses	5
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants	5
Genome screening, reporting, and genetic counseling for healthy populations	5
Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan	5
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment	5
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment	5
Dissecting the genetic history of the Roman Catholic populations of West Coast India	5
RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction	5
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct	4
A missense variant in IFT122 associated with a canine model of retinitis pigmentosa	4
Long noncoding RNAs as versatile molecular regulators of cellular stress response and homeostasis	4
Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches	4
Intronic variant in POU1F1 associated with canine pituitary dwarfism	4
Novel gene discovery for hearing loss and other routes to increased diagnostic rates	4
Recontacting in medical genetics: the implications of a broadening knowledge base	4
Genetic therapies for neurological disorders	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
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum	4
Genetics of otosclerosis: finally catching up with other complex traits?	4
Using comprehensive genomic and functional analyses for resolving genotype–phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study	4
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing	4
PMEL is mutated in oculocutaneous albinism	4
Should we respect parents’ views about which results to return from genomic sequencing?	4
BMP3 is a novel locus involved in the causality of ocular coloboma	4
Genome-wide analysis of genetic pleiotropy and causal genes across three age-related ocular disorders	4
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis	4
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome	4
CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a−) variant	4
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4	4
Interpreting variants in genes affected by clonal hematopoiesis in population data	4
Hearing loss in Africa: current genetic profile	4
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations	4
An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases	4
Gene-based association study reveals a distinct female genetic signal in primary hypertension	4
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon	4
Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat	4
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia	4
Advancing discovery in hearing research via biologist-friendly access to multi-omic data	4
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association	4
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract	4
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia	4
Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion	4
Highly pleiotropic variants of human traits are enriched in genomic regions with strong background selection	4
Truncation mutations in MYRF underlie primary angle closure glaucoma	4
Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery	4
Genotype imputation in case-only studies of gene-environment interaction: validity and power	4