| Consolidating the association of biallelic<i>MAPKAPK5</i>pathogenic variants with a distinct syndromic neurodevelopmental disorder |
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| Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records |
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| Development of a comprehensive approach to adult hereditary cancer testing in Ontario |
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| Biallelic frameshift variants in<i>PHLDB1</i>cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes |
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| Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes |
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| Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of<i>SPRY1</i>(sprouty homolog 1) function |
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| Population-based analysis of<i>POT1</i>variants in a cutaneous melanoma case–control cohort |
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✓ |
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European-descent |
| Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events |
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| Variants in<i>BSN</i>gene associated with epilepsy with favourable outcome |
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| Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples |
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| Optimising clinical care through<i>CDH1</i>-specific germline variant curation: improvement of clinical assertions and updated curation guidelines |
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| Public willingness to participate in population DNA screening in Australia |
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| Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients |
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| Psychopathology in mothers of children with pathogenic Copy Number Variants |
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| Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects |
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| Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders |
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| Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers |
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| Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis |
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| UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes:<i>RAD51C</i>,<i>RAD51D</i>,<i>BRIP1</i>and<i>PALB2</i> |
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| Conclusion of diagnostic odysseys due to inversions disrupting<i>GLI3</i>and<i>FBN1</i> |
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| High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency |
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| X-linked variations in<i>SHROOM4</i>are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems |
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| Characterising heart rhythm abnormalities associated with Xp22.31 deletion |
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| Homozygous truncating variant in<i>MAN2A2</i>causes a novel congenital disorder of glycosylation with neurological involvement |
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| <i>OTX2</i>duplications: a recurrent cause of oculo-auriculo-vertebral spectrum |
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| The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in<i>BRCA1</i>and<i>BRCA2</i> |
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| In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting<i>FOXP2</i> |
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| New insights into<i>CC2D2A</i>-related Joubert syndrome |
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| Germline mutations in<i>WNK2</i>could be associated with serrated polyposis syndrome |
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| Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities |
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| <i>APC</i>germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings? |
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| COP27 climate change conference: urgent action needed for Africa and the world |
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| Heterozygous pathogenic variants involving<i>CBFB</i>cause a new skeletal disorder resembling cleidocranial dysplasia |
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| Clinical, neuroimaging and molecular characteristics of<i>PPP2R5D</i>-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis |
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| Identifying the molecular drivers of ALS-implicated missense mutations |
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| Enhancing the BOADICEA cancer risk prediction model to incorporate new data on<i>RAD51C</i>,<i>RAD51D</i>,<i>BARD1</i>updates to tumour pathology and cancer incidence |
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| Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study |
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✓ |
|
|
women of European ancestry |
| Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences |
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| Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases |
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| Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases |
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✓ |
✓ |
Dutch |
| Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme |
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| Patient-facing digital tools for delivering genetic services: a systematic review |
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| Systems approach to enhance Lynch syndrome diagnosis through tumour testing |
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| Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of<i>MSH2</i>variants causing in-frame splicing alterations |
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| Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome |
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| Recurrent 17q12 microduplications contribute to renal disease but not diabetes |
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| Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis |
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| Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2 |
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| Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions |
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| Loss of seryl-tRNA synthetase (<i>SARS1</i>) causes complex spastic paraplegia and cellular senescence |
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| A founder<i>UMOD</i>variant is a common cause of hereditary nephropathy in the British population |
|
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|
✓ |
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| First estimates of diffuse gastric cancer risks for carriers of<i>CTNNA1</i>germline pathogenic variants |
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| Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in<i>SMAD4:</i>a nationwide study |
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| <i>MRM2</i>variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity |
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| Prevalence of Fabry disease-causing variants in the UK Biobank |
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| Correction: SETD1B-associated neurodevelopmental disorder |
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| Sequencing of the<i>ZMYND15</i>gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia |
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|
✓ |
✓ |
Chinese |
| TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation |
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| Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals |
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| <i>CDKN1C</i>hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited<i>KCNQ1OT1</i>:TSS-DMR |
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| Axenfeld-Rieger syndrome: more than meets the eye |
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| Identification of<i>RNF13</i>as cause of recessively inherited ALS in a multi-case pedigree |
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| A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot |
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| Refining nosology by modelling variation among facial phenotypes: the RASopathies |
|
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| Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China |
|
✓ |
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|
✓ |
|
|
Europeans |
| Decision-making and regret in patients with germline<i>CDH1</i>variants undergoing prophylactic total gastrectomy |
|
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| Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms |
|
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|
✓ |
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|
| Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation |
|
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| The role of single-cell genomics in human genetics |
|
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| Bi-allelic variants in<i>WNT7B</i>disrupt the development of multiple organs in humans |
|
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| A 132 bp deletion affecting the<i>KCNQ1OT1</i>gene associated with Silver-Russell syndrome clinical phenotype |
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| Recurrent small deletions in<i>KCNQ1OT1</i>: a challenge for pathogenicity prediction |
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| Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting<i>KCNQ1OT1</i>and associated phenotypes |
|
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| Cancer risk and tumour spectrum in 172 patients with a germline<i>SUFU</i>pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group |
|
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|
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| Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach |
|
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|
|
| A homozygous variant in<i>CHMP3</i>is associated with complex hereditary spastic paraplegia |
|
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|
|
✓ |
✓ |
Arab-Muslim origin |
| Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping |
|
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|
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|
|
| Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing |
|
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|
|
✓ |
✓ |
Japanese |
| Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT/β-catenin pathway |
|
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|
|
| The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness |
|
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|
|
| Population-based<i>BRCA1/2</i>testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study |
|
|
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|
|
✓ |
✓ |
Ashkenazi Jewish; Jewish people; Australian Jewish communities |
| <i>FSIP2</i>plays a role in the acrosome development during spermiogenesis |
|
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|
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|
|
| Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project |
|
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|
|
| Gain-of-function p.F28S variant in<i>RAC3</i>disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder |
|
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|
|
| Biallelic mutations in<i>ARMC12</i>cause asthenozoospermia and multiple midpiece defects in humans and mice |
|
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|
|
| Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases |
|
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|
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| Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study |
|
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| Novel<i>POLE</i>mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus |
|
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|
|
| Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases |
|
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|
|
| Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India |
|
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|
|
| Biallelic<i>CFAP61</i>variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia |
|
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|
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|
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|
|
| Long-read sequencing to resolve the parent of origin of a de novo pathogenic<i>UBE3A</i>variant |
|
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|
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|
|
| Contribution of large genomic rearrangements in<i>PALB2</i>to familial breast cancer: implications for genetic testing |
|
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|
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|
|
|
|
| <i>GLRA2</i>gene mutations cause high myopia in humans and mice |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Practice guidelines for <i>BRCA1/2</i> tumour testing in ovarian cancer |
|
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|
|
|
|
|
|
|
| <i>FXR1</i>-related congenital myopathy: expansion of the clinical and genetic spectrum |
|
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|
|
| Overlapping cortical malformations in patients with pathogenic variants in<i>GRIN1</i>and<i>GRIN2B</i> |
|
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|
|
| Identifying the psychosocial predictors of ultraviolet exposure to the face in patients with xeroderma pigmentosum: a study of the behavioural factors affecting clinical outcomes in this genetic disea |
|
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|
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|
|
| Novel truncating variants in<i>CTNNB1</i>cause familial exudative vitreoretinopathy |
|
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|
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|
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|
|
| A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon |
|
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|
|
| Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome |
|
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|
|
| UK recommendations for<i>SDHA</i>germline genetic testing and surveillance in clinical practice |
|
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|
|
| Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants |
|
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|
|
|
|
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|
|
| Consolidation of the clinical and genetic definition of a<i>SOX4-</i>related neurodevelopmental syndrome |
|
|
|
|
|
|
|
|
|
| Homozygous variants in<i>AKAP3</i>induce asthenoteratozoospermia and male infertility |
|
|
|
|
|
|
✓ |
✓ |
Han Chinese |
| Patient-derived cellular models of primary ciliopathies |
|
|
|
|
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|
|
| Complete loss of the X-linked gene<i>CASK</i>causes severe cerebellar degeneration |
|
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| Disorders and roles of tsRNA, snoRNA, snRNA and piRNA in cancer |
|
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| RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders |
|
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| Cost-effectiveness model of renal cell carcinoma (RCC) surveillance in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) |
|
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|
| Neurofibromatosis type 1 families with first-degree relatives harbouring distinct <i>NF1</i> pathogenic variants. Genetic counselling and familial diagnosis: what should be offered? |
|
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|
|
| Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease |
|
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|
| Dominant negative mutation in oxalate transporter<i>SLC26A6</i>associated with enteric hyperoxaluria and nephrolithiasis |
|
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|
|
| <i>DNAJC30</i> disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy |
|
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|
✓ |
✓ |
|
|
Central European cohort; European patients. |
| Simplified and more sensitive criteria for identifying individuals with pathogenic<i>CDH1</i>variants |
|
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| Long-term tumour dormancy in a<i>BRCA1</i>heterozygote |
|
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