| Whole exome sequencing improves genetic diagnosis of fetal clubfoot |
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| Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis |
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| Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome |
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| KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon |
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| CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment |
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| Mate-pair genome sequencing reveals structural variants for idiopathic male infertility |
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| Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project |
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| Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association |
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| From collected stamps to hair locks: ethical and legal implications of testing DNA found on privately owned family artifacts |
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| A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation |
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| Investigating the shared genetic architecture and causal relationship between pain and neuropsychiatric disorders |
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| The genomic analysis of current-day North African populations reveals the existence of trans-Saharan migrations with different origins and dates |
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| The genetics of monogenic intestinal epithelial disorders |
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| Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin |
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| Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development |
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| SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing |
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| Re: “Next generation sequencing in neonatology: what does it mean for the next generation?” |
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| Genome-wide analyses of early-onset acute myocardial infarction identify 29 novel loci by whole genome sequencing |
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| Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans |
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✓ |
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in Europeans |
| Variations in mitochondrial DNA coding and d-loop region are associated with early embryonic development defects in infertile women |
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| Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections |
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| Genome screening, reporting, and genetic counseling for healthy populations |
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| The matrilineal ancestry of Nepali populations |
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| Common genetic risk factors in ASD and ADHD co-occurring families |
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| Large-scale pedigree analysis highlights rapidly mutating Y-chromosomal short tandem repeats for differentiating patrilineal relatives and predicting their degrees of consanguinity |
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| PMEL is mutated in oculocutaneous albinism |
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| Publisher Correction: Predicting functional consequences of mutations using molecular interaction network features |
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| Publisher Correction: Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations |
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| Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy |
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| Computational interpretation of human genetic variation |
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| Publisher Correction: Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage |
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| Truncation mutations in MYRF underlie primary angle closure glaucoma |
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| Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation |
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| Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy |
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Irish |
| Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2 |
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| RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy |
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| Comprehensive analysis of microsatellite polymorphisms in human populations |
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| Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss |
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| De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis |
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| Hemizygosity can reveal variant pathogenicity on the X-chromosome |
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| Locus-level antagonistic selection shaped the polygenic architecture of human complex diseases |
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| Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1 |
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| Special issue: Artificial intelligence in genomics |
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| Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer |
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| The heritability of vocal tract structures estimated from structural MRI in a large cohort of Dutch twins |
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Dutch |
| Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice |
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| Clinical characteristics and comorbidities of COVID-19 in unvaccinated patients with Down syndrome: first year report in Brazil |
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| Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping |
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| A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings |
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| 46,XY disorders of sex development: the use of NGS for prevalent variants |
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| GATA4 and estrogen receptor alpha bind at SNPs rs9921222 and rs10794639 to regulate AXIN1 expression in osteoblasts |
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| From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research |
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| Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair |
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| Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans |
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| Editorial to special issue on Ethics in Genetics |
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| Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4 |
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| Monogenic causes of pigmentary mosaicism |
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| The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review |
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| Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene |
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| Genome interpretation using in silico predictors of variant impact |
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| Pharmacogenomics: the low-hanging fruit in the personalized medicine tree |
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| Validating the knowledge bank approach for personalized prediction of survival in acute myeloid leukemia: a reproducibility study |
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| Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine |
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| Editorial to the Special Issue on “The molecular genetics of hearing and deafness” |
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| Predicting genes from phenotypes using human phenotype ontology (HPO) terms |
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| Next generation sequencing in neonatology: what does it mean for the next generation? |
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| Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing |
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| Genetic testing for pediatric hearing loss: no time to waste |
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| The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification |
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| Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches |
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| CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a−) variant |
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✓ |
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Jews of Bukharan descent |
| The hearing-impaired patient: what the future holds |
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| Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene |
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| Signatures of genetic variation in human microRNAs point to processes of positive selection and population-specific disease risks |
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| Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss |
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| Challenges in translational machine learning |
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| Advancing discovery in hearing research via biologist-friendly access to multi-omic data |
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| Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid |
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| Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants |
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| Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation |
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| DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss |
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| Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes |
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| An effector index to predict target genes at GWAS loci |
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| Evolutionary history of type II transmembrane serine proteases involved in viral priming |
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| C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures |
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| Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants |
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| Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis |
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| BMP3 is a novel locus involved in the causality of ocular coloboma |
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| Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA |
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| Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans |
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| Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0 |
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| Genetic etiology of non-syndromic hearing loss in Europe |
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| Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant |
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| Correction to: Genetic etiology of non-syndromic hearing loss in Latin America |
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| AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss |
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| Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation |
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| Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease |
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✓ |
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Chinese |
| Genetic etiology of hearing loss in Iran |
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| Fine human genetic map based on UK10K data set |
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| 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 |
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✓ |
✓ |
Japanese population; East Asian population |
| Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum |
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| SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation |
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| Interpretable generative deep learning: an illustration with single cell gene expression data |
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| SNP characteristics and validation success in genome wide association studies |
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