| Comprehensive evaluation of <i>BRCA1</i>/2 variant interpretation ability among laboratories in China |
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| Biallelic variants in <i>ZNF526</i> cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration |
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| Correction:<i>Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome</i> |
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| Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease |
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| High cumulative risk of colorectal cancers and desmoid tumours and fibromatosis in South Asian APC mutation carriers |
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✓ |
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✓ |
✓ |
✓ |
European cohorts; Asian cohorts; non-Caucasian; geoethnic differences |
| Abstracts from 2021 CCMG-CCGM |
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| <i>CDH1</i>germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome |
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| A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> gene |
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| Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline<i>PTEN</i>variants |
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| Multimodal bioinformatic analyses of the neurodegenerative disease-associated<i>TECPR2</i>gene reveal its diverse roles |
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| <i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability |
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| Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency |
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| Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method |
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| Impact of pathogenic<i>FBN1</i>variant types on the development of severe scoliosis in patients with Marfan syndrome |
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| Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients |
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| Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy |
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✓ |
✓ |
Indian; Arab; different ethnic populations |
| Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts |
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| Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of <i>PTCH1</i> in Gorlin-Goltz syndrome |
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| Constitutional chromothripsis of the <i>APC</i> locus as a cause of genetic predisposition to colon cancer |
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| Improving the clinical interpretation of missense variants in X linked genes using structural analysis |
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| Biallelic<i>ANGPT2</i>loss-of-function causes severe early-onset non-immune hydrops fetalis |
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| Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations |
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| Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study |
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✓ |
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seven European mitochondrial disease centres |
| Pharmacogenomic testing and prescribing patterns for patients with cancer in a large national precision medicine cohort |
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| Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors |
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✓ |
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women of European ancestry |
| Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in<i>CHST14</i>(mcEDS-<i>CHST14</i>) |
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✓ |
✓ |
Japanese |
| Variable skeletal phenotypes associated with biallelic variants in <i>PRKG2</i> |
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| Genotype-phenotype correlation in clubfoot (talipes equinovarus) |
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| Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives |
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| New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving<i>TWIST1</i>regulatory elements |
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| <i>SDHB</i>variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma |
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| Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program |
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| Bi-allelic loss-of-function variants in<i>KIF21A</i>cause severe fetal akinesia with arthrogryposis multiplex |
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| Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project |
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| <i>NOTCH2NLC</i>-related disorders: the widening spectrum and genotype–phenotype correlation |
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✓ |
✓ |
✓ |
European ancestry; Asians |
| <i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum |
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| Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to <i>FANCD1/BRCA2</i> during adulthood: description of an emerging phenotype |
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| Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes |
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| SOX10: 20 years of phenotypic plurality and current understanding of its developmental function |
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| Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex |
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| Biallelic variants in <i>ZFP36L2</i> cause female infertility characterised by recurrent preimplantation embryo arrest |
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| Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing |
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| Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1 |
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| A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium |
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| Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population |
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✓ |
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European ancestry |
| Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists |
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| Biallelic variants of <i>ATP13A3</i> cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality |
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| Call for emergency action to limit global temperature increases, restore biodiversity and protect health |
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| Expanding the phenotype of <i>SPARC</i>-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in <i>SPARC</i> and literature review |
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| Gene fusions in tumourigenesis with particular reference to ovarian cancer |
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| International initiative for a curated <i>SDHB</i> variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma |
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| Genotype–phenotype correlation in arrhythmogenic right ventricular cardiomyopathy—risk of arrhythmias and heart failure |
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| Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes |
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| Myasthenia gravis genome-wide association study implicates AGRN as a risk locus |
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| <i>ARF1</i> haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity |
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| Biallelic <i>GINS2</i> variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis |
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| Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component |
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✓ |
✓ |
Spanish |
| Homozygous mutations in <i>CCDC34</i> cause male infertility with oligoasthenoteratozoospermia in humans and mice |
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✓ |
✓ |
Chinese; North Africa; Iran; France |
| Men with <i>FMR1</i> premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS) |
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| Delineating the genotypic and phenotypic spectrum of <i>HECW2</i>-related neurodevelopmental disorders |
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| Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy |
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| O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum |
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| Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype |
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| Methodology in phenome-wide association studies: a systematic review |
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| Results from London Regional Clinical Genetics services over a 5-year period on germline <i>TP53</i> testing in women diagnosed with breast cancer at <30 years |
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| Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects |
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✓ |
✓ |
Arab–Muslim descent |
| Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series |
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| Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability |
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| Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population |
|
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|
✓ |
✓ |
Chinese; phrases include 'Chinese population', 'ethnic Chinese individuals', 'general Chinese popula |
| Loss-of-function variants in <i>DNM1</i> cause a specific form of developmental and epileptic encephalopathy only in biallelic state |
|
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| Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive |
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| Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission |
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| Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study |
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| Mosaic de novo <i>SNRPN</i> gene variant associated with Prader-Willi syndrome |
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| Homozygous mutation in <i>MCM7</i> causes autosomal recessive primary microcephaly and intellectual disability |
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| A protein-truncating mutation in <i>CCNB3</i> in a patient with recurrent miscarriages and failure of meiosis I |
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| Neurodevelopmental phenotypes associated with pathogenic variants in <i>SLC6A1</i> |
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| WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome |
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| Development and evaluation of an online, patient-driven, family outreach intervention to facilitate sharing of genetic risk information in families with Lynch syndrome |
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| Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation |
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| Analysis of 200 000 exome-sequenced UK Biobank subjects illustrates the contribution of rare genetic variants to hyperlipidaemia |
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| A systematic study and literature review of parental somatic mosaicism of <i>FBN1</i> pathogenic variants in Marfan syndrome |
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| <i>BBS1</i> branchpoint variant is associated with non-syndromic retinitis pigmentosa |
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| Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability |
|
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|
✓ |
✓ |
pioneers issued from successive migration waves starting in France in the 17th century |
| Haploinsufficiency in non-homologous end joining factor 1 induces ovarian dysfunction in humans and mice |
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✓ |
✓ |
Chinese |
| Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders |
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| Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository |
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| Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita |
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| Clinical and subclinical findings in heterozygous <i>ABCC6</i> carriers: results from a Belgian cohort and clinical practice guidelines |
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| Mutations in phospholipase C eta-1 (<i>PLCH1</i>) are associated with holoprosencephaly |
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| Whole genome and exome sequencing identify <i>NDUFV2</i> mutations as a new cause of progressive cavitating leukoencephalopathy |
|
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|
✓ |
✓ |
Chinese families |
| Adult phenotype of <i>KCNQ2</i> encephalopathy |
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| Patients with <i>KCNH1</i>-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome |
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| Characterisation of protein-truncating and missense variants in <i>PALB2</i> in 15 768 women from Malaysia and Singapore |
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✓ |
|
|
European populations |
| Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of <i>DICER1</i> syndrome |
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| Activation of cryptic donor splice sites by non-coding and coding<i>PAX6</i>variants contributes to congenital aniridia |
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✓ |
✓ |
Spanish cohort |
| High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer |
|
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| Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus |
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| Rising of <i>LOXHD1</i> as a signature causative gene of down-sloping hearing loss in people in their teens and 20s |
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| Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency |
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| De novo <i>TRPV4</i> Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy |
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| Genetic variants associated with expression of <i>TCF19</i> contribute to the risk of head and neck cancer in Chinese population |
|
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| Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study |
|
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|
✓ |
|
|
The European founder mutation p.Ala307Ser in TSEN54 |
| High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics |
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| Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group |
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| Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome |
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| Surgical decision making in premenopausal <i>BRCA</i> carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study |
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| Uptake and efficacy of bilateral risk reducing surgery in unaffected female <i>BRCA1</i> and <i>BRCA2</i> carriers |
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| Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services |
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| Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel |
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| Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes |
|
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| Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent <i>TUBB2A</i> mutation |
|
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| Oncologist-led <i>BRCA</i> counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes |
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| Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors |
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| Pregnancy outcomes in women with neurofibromatosis 1: a Danish population-based cohort study |
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| Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease |
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| <i>DDX58</i>(RIG-I)-related disease is associated with tissue-specific interferon pathway activation |
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| Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH |
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| Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers |
|
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| Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene |
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| Unexpected role of<i>SIX1</i>variants in craniosynostosis: expanding the phenotype of<i>SIX1</i>-related disorders |
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| Editorial:<i>JMG</i>in 2021 |
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