| 5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation |
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| Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia |
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| Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis |
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| A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes |
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| PIGF deficiency causes a phenotype overlapping with DOORS syndrome |
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| Embeddings from protein language models predict conservation and variant effects |
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| 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 |
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| Differential fates of introns in gene expression due to global alternative splicing |
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| Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males |
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| Retraction Note to: Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes |
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| Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity |
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| In the family: access to, and communication of, familial information in clinical practice |
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| What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics |
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| Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation |
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✓ |
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| 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 |
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| A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia |
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| A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome |
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| Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings |
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| Genetic therapies for neurological disorders |
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| SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population |
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| Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria |
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| Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant |
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| Disease-associated human genetic variation through the lens of precursor and mature RNA structure |
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| MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects |
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| Mitochondrial “dysmorphology” in variant classification |
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| Correction to: Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan |
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| PRNCR1: a long non-coding RNA with a pivotal oncogenic role in cancer |
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| The population genetics characteristics of a 90 locus panel of microhaplotypes |
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| The potential application of organoids in breast cancer research and treatment |
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| The promise of automated machine learning for the genetic analysis of complex traits |
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| ASTL is mutated in female infertility |
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| A review of migraine genetics: gathering genomic and transcriptomic factors |
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| Interpretable machine learning for genomics |
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| TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy |
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| Genetic etiology of non-syndromic hearing loss in Latin America |
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| Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health |
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✓ |
|
|
individuals of European descent |
| Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review |
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| How to fix a broken protein: restoring function to mutant human cystathionine β-synthase |
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| WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins |
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| A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss |
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| A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene |
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✓ |
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| Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant |
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| Hearing loss in Africa: current genetic profile |
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✓ |
✓ |
Uses terms referring to populations: 'Europeans and Asians', 'African', 'North Africa', 'sub-Saharan |
| Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss |
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| Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, and the use of microa |
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| Novel gene discovery for hearing loss and other routes to increased diagnostic rates |
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| Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide |
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| The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients |
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| Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat |
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| Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models |
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| Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan |
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| Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions |
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| Patient and public preferences for being recontacted with updated genomic results: a mixed methods study |
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| Clinical impact of rare variants associated with inherited channelopathies: a 5-year update |
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| Biallelic variants in YRDC cause a developmental disorder with progeroid features |
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| COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study |
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| Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss |
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|
✓ |
✓ |
Japanese |
| Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation |
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| ATR-X syndrome: genetics, clinical spectrum, and management |
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| Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss |
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✓ |
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| Genetics of otosclerosis: finally catching up with other complex traits? |
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| 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 |
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| Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations |
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| Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage |
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| The noncoding genome and hearing loss |
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| Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis |
|
|
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|
|
✓ |
✓ |
✓ |
subjects of European and Asian ancestry; European ancestry; Asian ancestry; Latino American, African, and indigenous North American ancestry |
| Genetic hearing loss: the audiologist’s perspective |
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| Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry |
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|
✓ |
|
African-ancestry |
| An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia |
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| Recontacting in medical genetics: the implications of a broadening knowledge base |
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|
| Retraction Note: EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population |
|
|
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|
✓ |
|
Eurasian population |
| Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus |
|
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|
| NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases |
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| Central auditory deficits associated with genetic forms of peripheral deafness |
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| Predicting functional consequences of mutations using molecular interaction network features |
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| ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype |
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| Ethical considerations in gene selection for reproductive carrier screening |
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| The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study |
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| Dissecting the genetic history of the Roman Catholic populations of West Coast India |
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| The fetus in the age of the genome |
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| Through 40,000 years of human presence in Southern Europe: the Italian case study |
|
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|
✓ |
|
|
post-LGM re-peopling of Europe; pre-Villabruna Europeans; Southern European samples |
| A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis |
|
|
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|
|
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|
|
| Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant |
|
✓ |
|
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|
|
| Restriction enzyme selection dictates detection range sensitivity in chromatin conformation capture-based variant-to-gene mapping approaches |
|
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|
| Radiographical Survey of Osteochondrodysplasia in Scottish Fold Cats caused by the TRPV4 gene variant |
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|
| First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean’s founder population |
|
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|
✓ |
|
French-Canadian families from Saguenay-Lac-Saint-Jean’s founder population |
| The clinical utility of exome and genome sequencing across clinical indications: a systematic review |
|
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| The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding |
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| Genetic etiology of hearing loss in Russia |
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| Correction to: Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys |
|
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|
✓ |
|
Mapuche genetic ancestry |
| Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss |
|
|
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|
|
| Deafness-in-a-dish: modeling hereditary deafness with inner ear organoids |
|
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|
| New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder |
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| Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2 |
|
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|
|
| Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries |
|
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|
|
| Molecular genetic landscape of hereditary hearing loss in Pakistan |
|
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| ZNF668 deficiency causes a recognizable disorder of DNA damage repair |
|
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| Hearing loss and tinnitus: association studies for complex-hearing disorders in mouse and man |
|
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|
|
| Evidence that geographic variation in genetic ancestry associates with uterine fibroids |
|
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|
|
| Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future |
|
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|
|
| Identification of aneuploidy in dogs screened by a SNP microarray |
|
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|
| An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases |
|
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|
|
| 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 |
|
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|
|
| Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges |
|
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|
|
| Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse |
|
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|
|
| Correction to: Causal influences of neuroticism on mental health and cardiovascular disease |
|
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|
|
| Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes |
|
|
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|
|
|
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|
|
| Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores |
|
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|
|
| Highly pleiotropic variants of human traits are enriched in genomic regions with strong background selection |
|
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|
|
| Use of whole genome analysis to identify shared genomic variants across breeds in canine mitral valve disease |
|
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|
|
| IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease |
|
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| Compensatory epistasis explored by molecular dynamics simulations |
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| Collagen transport and related pathways in Osteogenesis Imperfecta |
|
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|
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| Genome sequencing in families with congenital limb malformations |
|
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|
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| Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment |
|
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|
|
| Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome |
|
|
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|
|
| Association of CXCR6 with COVID-19 severity: delineating the host genetic factors in transcriptomic regulation |
|
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|
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|
|
| Evaluating marginal genetic correlation of associated loci for complex diseases and traits between European and East Asian populations |
|
|
|
|
✓ |
|
|
|
European and East Asian populations |
| Current challenges and opportunities for pharmacogenomics: perspective of the Industry Pharmacogenomics Working Group (I-PWG) |
|
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|
| Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family |
|
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| Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation |
|
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|
|
| Phenome-wide screening of GWAS data reveals the complex causal architecture of obesity |
|
|
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|
|
|
|
|
|
| Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys |
|
|
|
|
|
✓ |
✓ |
✓ |
European and Mapuche Native American ancestries; European adolescents; European compared with Mapuch; Mapuche Native American ancestries; Mapuche adolescents |
| Genotype imputation in case-only studies of gene-environment interaction: validity and power |
|
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|
|
| What is so complicated about prenatal testing for Down syndrome? A personal view |
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|
|
| Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss |
|
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|
|
| Should we respect parents’ views about which results to return from genomic sequencing? |
|
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| Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects |
|
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|
|
| Causal influences of neuroticism on mental health and cardiovascular disease |
|
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|
|
| Characterization of intermediate-sized insertions using whole-genome sequencing data and analysis of their functional impact on gene expression |
|
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|
|
| Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure |
|
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|
|
| Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism |
|
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|
|
| Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy |
|
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|
|
| Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity |
|
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|
| Geographic variation in the polygenic score of height in Japan |
|
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| Addressing the dark matter of gene therapy: technical and ethical barriers to clinical application |
|
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|
| In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration |
|
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|
|
| Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome |
|
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|
|
| The human microbiome and genetic disease: towards the integration of metagenomic and multi-omics data |
|
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|
|
| Correction to: 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 |
|
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|
|
| Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults |
|
|
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|
|
| Peter S. Harper: obituary |
|
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|
| The promise of public health ethics for precision medicine: the case of newborn preventive genomic sequencing |
|
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|
|
| A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature |
|
|
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|
|
|
|
|
| Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland |
|
|
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|
|
✓ |
|
|
European populations |
| 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 |
|
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|
| High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders |
|
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|
|
| A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy |
|
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|
|
| Insights into the pathogenicity of missense variants in the forkhead domain of FOX proteins underlying Mendelian disorders |
|
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|
|
| Multi-omics highlights ABO plasma protein as a causal risk factor for COVID-19 |
|
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|
|
| Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies |
|
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|
|
| A missense variant in IFT122 associated with a canine model of retinitis pigmentosa |
|
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|
| Admixture mapping identifies African and Amerindigenous local ancestry loci associated with fetal growth |
|
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|
| Do we measure or compute polygenic risk scores? Why language matters |
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| Pharmacogenetics in developing countries and low resource environments |
|
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| Intronic variant in POU1F1 associated with canine pituitary dwarfism |
|
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|
| Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update |
|
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| Correction to: Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance |
|
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| Missense3D-DB web catalogue: an atom-based analysis and repository of 4M human protein-coding genetic variants |
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| A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans |
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| A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum |
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| Meta-analysis of sample-level dbGaP data reveals novel shared genetic link between body height and Crohn’s disease |
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| Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome |
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| Alternative splicing in normal and pathological human placentas is correlated to genetic variants |
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| RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction |
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| Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth |
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| A network-based machine-learning framework to identify both functional modules and disease genes |
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