| Intermediate-effect size p.Arg637Gln in<i>FHOD3</i>increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers |
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| Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for<i>BRCA1/2</i> |
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| Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey |
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| Breast cancer risk in<i>NF1</i>-deleted patients |
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| Recontact to return new or updated<i>PALB2</i>genetic results in the clinical laboratory setting |
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| Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals |
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| Reduced penetrance of gene variants causing amyotrophic lateral sclerosis |
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| Risk-reducing decisions regarding germline<i>BRCA</i>pathogenic variant: focusing on the timing of genetic testing and RRSO |
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| Germline testing of<i>BRCA1</i>,<i>BRCA2</i>,<i>PALB2</i>and<i>CHEK2</i>c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of<i>ATM</i> |
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| Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGe |
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| Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia |
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| Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study |
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| Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice |
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✓ |
|
|
people of European descent |
| Biallelic<i>PKP2</i>loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects |
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| Clinical and genetic spectrum of<i>RNF216</i>-related disorder: a new case and literature review |
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| Heterozygous<i>COL17A1</i>variants are a frequent cause of amelogenesis imperfecta |
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| Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries |
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| Familial Alzheimer’s disease associated with heterozygous<i>NPC1</i>mutation |
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| De novo variants in<i>KCNJ3</i>are associated with early-onset epilepsy |
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| Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study |
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| Titin copy number variations associated with dominant inherited phenotypes |
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| Next generation of free? Points to consider when navigating sponsored genetic testing |
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| Non-coding CGG repeat expansion in<i>LOC642361/NUTM2B-AS1</i>is associated with a phenotype of oculopharyngodistal myopathy |
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✓ |
✓ |
Chinese |
| Novel<i>TFG</i>mutation causes autosomal-dominant spastic paraplegia and defects in autophagy |
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✓ |
✓ |
Chinese |
| Functional annotation with expression validation identifies novel metastasis-relevant genes from post-GWAS risk loci in sporadic colorectal carcinomas |
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| Time to treat the climate and nature crisis as one indivisible global health emergency |
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| Further characterisation of<i>ARX</i>-related disorders in females due to inherited or de novo variants |
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| Loss-of-function variants in
<i>ZEB1</i>
cause dominant anomalies of the corpus callosum with favourable cognitive prognosis |
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| <i>CCDC66</i>
mutations are associated with high myopia through affected cell mitosis |
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| Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma |
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✓ |
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| Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1 |
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| Intellectual disability syndrome associated with a homozygous founder variant in
<i>SGSM3</i>
in Ashkenazi Jews |
|
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|
✓ |
✓ |
Ashkenazi Jewish / Ashkenazi Jews |
| Evidence of a genetic background predisposing to complex regional pain syndrome type 1 |
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| Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome |
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| Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes |
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| Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study |
|
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|
✓ |
✓ |
pan-ethnic |
| Spectrum of
<i>LYST</i>
mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature |
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| Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency |
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| Carriers of autosomal recessive conditions: are they really ‘unaffected?’ |
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| Exploring the association between congenital vertebral malformations and neural tube defects |
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| Mosaic
<i>BRCA1</i>
promoter methylation contribution in hereditary breast/ovarian cancer pedigrees |
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| Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases |
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| Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature |
|
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| Recessive<i>MECR</i>pathogenic variants cause an LHON-like optic neuropathy |
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| Association between genetic polymorphisms and risk of adolescent idiopathic scoliosis in case-control studies: a systematic review |
|
✓ |
|
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|
|
✓ |
✓ |
East Asian |
| Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project |
|
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| Biallelic truncating variants in<i>VGLL2</i>cause syngnathia in humans |
|
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| Recurrent<i>BRCA2</i>exon 3 deletion in Assyrian families |
|
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|
|
|
✓ |
✓ |
Assyrian; 'ethnoreligious population of ancient Mesopotamia'; 'religious and language minority' |
| <i>TBX20</i>loss-of-function variants in families with left ventricular non-compaction cardiomyopathy |
|
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| Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases |
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| Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature |
|
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| Clinical, genetic and biochemical signatures of<i>RBP4</i>-related ocular malformations |
|
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|
|
| Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients |
|
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|
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| Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative’ individuals recruited to the 100 000 Genomes Project |
|
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|
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| Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer |
|
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|
|
| Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer |
|
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|
|
| Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with<i>ZNF148</i>mutations |
|
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|
| Experience of reassessing<i>FBN1</i>variants of uncertain significance by gene-specific guidelines |
|
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|
|
| Germline<i>HPF1</i>retrogene insertion in<i>RB1</i>gene involved in cancer predisposition |
|
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|
|
| <i>CHEK2</i>is not a Li-Fraumeni syndrome gene: time to update public resources |
|
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|
|
| Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes |
|
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|
|
| Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders |
|
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|
|
| Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort study |
|
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| <i>GOLM1</i>: expanding our understanding of melanoma susceptibility |
|
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| Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia |
|
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|
|
| A multilayered approach to the analysis of genetic data from individuals with suspected albinism |
|
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|
|
| Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes |
|
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|
|
| Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt–Hogg–Dubé syndrome |
|
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|
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|
|
| Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel |
|
|
|
|
✓ |
✓ |
|
|
European (EUR) ancestry |
| <i>Correction 2:</i>A common<i>SLC26A4</i>-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct |
|
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|
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|
|
| <i>MSH3</i>: a confirmed predisposing gene for adenomatous polyposis |
|
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|
|
|
|
|
|
| Mutation in mitral valve prolapse susceptible gene<i>DCHS1</i>causes familial mitral annular disjunction |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| <i>SMARCA4</i>mutation causes human otosclerosis and a similar phenotype in mice |
|
|
|
|
|
|
|
|
|
| Evaluation of the clinical, biochemical, genotype and prognosis of<i>mut</i>-type methylmalonic acidemia in 365 Chinese cases |
|
|
|
|
|
|
✓ |
✓ |
Chinese (e.g., "365 Chinese cases", "in China", "Chinese patients") |
| Dominant negative variants in<i>IKZF2</i>cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay |
|
|
|
|
|
|
|
|
|
| Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome |
|
|
|
|
|
✓ |
|
|
European-descendant individuals with LS |
| Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis |
|
|
|
|
|
|
|
|
|
| Congenital mirror movements are associated with defective polymerisation of RAD51 |
|
|
|
|
|
|
|
|
|
| The Phenotypic variability of 16p11.2 distal BP2–BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples |
|
|
|
|
|
|
|
|
|
| Adaptive nanopore sequencing to determine pathogenicity of<i>BRCA1</i>exonic duplication |
|
|
|
|
|
|
|
|
|
| Genotypes and phenotypes of<i>DNM1</i>encephalopathy |
|
|
|
|
|
|
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|
|
| Genetic features and kidney morphological changes in women with X-linked Alport syndrome |
|
|
|
|
|
|
|
|
|
| Ureteropelvic junction obstruction with primary lymphoedema associated with<i>CELSR1</i>variants |
|
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|
|
|
|
|
|
|
| HnRNPR strongly represses splicing of a critical exon associated with spinal muscular atrophy through binding to an exonic AU-rich element |
|
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|
|
|
|
|
| A model for the return and referral of all clinically significant secondary findings of genomic sequencing |
|
|
|
|
|
|
|
|
|
| Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in<i>POLR3A</i>,<i>POLR3B</i>and<i>POLR1C</i> |
|
|
|
|
|
|
|
|
|
| Expanding the phenotypic spectrum of<i>TRAPPC11-</i>related muscular dystrophy: 25 Roma individuals carrying a founder variant |
|
|
|
|
|
|
✓ |
✓ |
Roma; Roma population |
| Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities |
|
|
|
|
|
|
|
|
|
| Phenotypical differences of<i>C9ORF72</i>gene-positive and negative amyotrophic lateral sclerosis: a comparative case series |
|
|
|
|
|
|
|
|
|
| Analysis of Rotterdam Study cohorts confirms a previously identified<i>RIPOR2</i>in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Net |
|
|
|
|
|
|
|
|
|
| Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma |
|
|
|
|
|
|
|
|
|
| <i>ARF1</i>-related disorder: phenotypic and molecular spectrum |
|
|
|
|
|
|
|
|
|
| Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on<i>APC</i>I1307K and cancer risk |
|
|
|
|
|
|
✓ |
✓ |
Ashkenazi Jewish |
| <i>TP53</i>c.455C>T p.(Pro152Leu) pathogenic variant is a lower risk allele with attenuated risks of breast cancer and sarcoma |
|
|
|
|
|
|
|
|
|
| Biallelic<i>NPR1</i>loss of function variants are responsible for neonatal systemic hypertension |
|
|
|
|
|
|
|
|
|
| Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning |
|
|
|
|
|
|
|
|
|
| Genotype and sleep independently predict mental health in Rett syndrome: an observational study |
|
|
|
|
|
|
|
|
|
| Biallelic variants in<i>DNA2</i>cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome |
|
|
|
|
|
✓ |
✓ |
✓ |
Swiss/Portuguese ancestry; European siblings (Portuguese father of the European siblings); Brazilian probands; Swiss; Portuguese; Portuguese father; Swiss/Portuguese ancestry |
| Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer |
|
|
|
|
|
|
|
|
|
| Strategic validation of variants of uncertain significance in<i>ECHS1</i>genetic testing |
|
|
|
|
|
|
|
|
|
| Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort |
|
|
|
|
|
|
|
|
|
| Mutations in<i>VWA8</i>cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation |
|
|
|
|
|
|
|
|
|
| Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples |
|
|
|
|
|
|
|
|
|
| The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum |
|
|
|
|
|
|
|
|
|
| Pancreatic cancer cluster region identified in<i>BRCA2</i> |
|
|
|
|
|
|
|
|
|
| <i>PSMD3</i>gene mutations cause pathological myopia |
|
|
|
|
|
|
|
|
|
| Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE st |
|
|
|
|
|
|
|
|
|
| Pathogenic variations in<i>MAML2</i>and<i>MAMLD1</i>contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway |
|
|
|
|
|
|
|
|
|
| Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis |
|
|
|
|
|
|
|
|
|
| <i>MSH2</i>is the very young onset ovarian cancer predisposition gene, not<i>BRCA1</i> |
|
|
|
|
|
|
|
|
|
| Update of penetrance estimates in Birt-Hogg-Dubé syndrome |
|
|
|
|
|
|
|
|
|
| TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype |
|
|
|
|
|
|
|
|
|
| Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG) |
|
|
|
|
|
|
|
|
|
| Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of<i>TREM2</i> |
|
|
|
|
|
|
|
|
|
| Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with<i>EPHB4</i>pathogenic variants |
|
|
|
|
|
|
|
|
|
| Germline pathogenic<i>SMARCA4</i>variants in neuroblastoma |
|
|
|
|
|
|
|
|
|
| Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome |
|
|
|
|
|
✓ |
✓ |
✓ |
European patients with JS; European JS cohort; ~550 European patients; Ashkenazi Jewish; Hutterite; Finnish; Italian; American |
| Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations |
|
|
|
|
|
|
|
|
|
| Pseudocoloboma-like maculopathy with biallelic<i>RDH12</i>missense mutations |
|
|
|
|
|
|
|
|
|
| Histones: coming of age in Mendelian genetic disorders |
|
|
|
|
|
|
|
|
|
| Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study |
|
|
|
|
|
|
|
|
|
| EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders |
|
|
|
|
|
|
|
|
|
| <i>FXN</i>gene methylation determines carrier status in Friedreich ataxia |
|
|
|
|
|
|
|
|
|
| Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study |
|
|
|
|
|
|
|
|
|
| Clinical and genetic features of GATOR1 complex-associated epilepsy |
|
|
|
|
|
|
|
|
|
| Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices |
|
|
|
|
|
|
|
|
|
| Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes |
|
|
|
|
|
|
|
|
|
| Differential rates of germline heterozygote and mosaic variants in<i>NF2</i>may show varying propensity for meiotic or mitotic mutation |
|
|
|
|
|
|
|
|
|
| Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome |
|
|
|
|
|
|
|
|
|
| Biallelic mutations in<i>CFAP54</i>cause male infertility with severe MMAF and NOA |
|
|
|
|
|
|
✓ |
✓ |
Han Chinese |