| Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting <i>BRCA1/2</i> mutations in a Southeast Asian country |
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✓ |
✓ |
Southeast Asian population; Manchester population |
| <i>P4HB</i> recurrent missense mutation causing Cole-Carpenter syndrome |
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| Correction: <i>FOXP1-related intellectual disability syndrome: a recognisable entity</i> |
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| Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences |
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| Paediatric ovarian tumours and their associated cancer susceptibility syndromes |
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| Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations |
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| Genome-wide association study of telomere length among South Asians identifies a second RTEL1 association signal |
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✓ |
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populations of European ancestry; individuals of European ancestry; Northern Europeans |
| Genetics of Parkinson’s disease and related disorders |
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| Disclosure of genetic information to relatives: balancing confidentiality and relatives’ interests |
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| Homozygous mutation in<i>CEP19,</i>a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly |
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| Defect in phosphoinositide signalling through a homozygous variant in<i>PLCB3</i>causes a new form of spondylometaphyseal dysplasia with corneal dystrophy |
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✓ |
Emirati |
| Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients |
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| PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature |
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| A novel de novo dominant mutation in<i>ISCU</i>associated with mitochondrial myopathy |
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| Genome-wide association study identified copy number variants associated with sporadic colorectal cancer risk |
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Singapore Chinese; ethnicity-matched |
| Expanding the clinical spectrum of recessive truncating mutations of<i>KLHL7</i>to a Bohring-Opitz-like phenotype |
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| Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases |
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| Contribution of de novo and mosaic <i>TP53</i> mutations to Li-Fraumeni syndrome |
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| Genetic landscape of interactive effects of<i>HLA-DRB1</i>alleles on susceptibility to ACPA(+) rheumatoid arthritis and ACPA levels in Japanese population |
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| GWAS on prolonged gestation (post-term birth): analysis of successive Finnish birth cohorts |
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| Inherited mutations in <i>BRCA1</i> and <i>BRCA2</i> in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia |
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✓ |
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women of European descent |
| Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability |
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| Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature |
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| Erratum:
<i>Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations</i> |
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| CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing |
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| SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family |
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| DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment |
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| Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability |
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| Genetic Severity Score predicts clinical phenotype in NF2 |
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| <i>CTCF</i>deletion syndrome: clinical features and epigenetic delineation |
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| Hypothesis: lobe A (COG1–4)-CDG causes a more severe phenotype than lobe B (COG5–8)-CDG |
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| Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic <i>COL10A1</i> variant |
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| Thank you to our reviewers 2016 |
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| Choosing Wisely Canada: The Canadian College of Medical Geneticists’ (CCMG) list of five items physicians and patients should question |
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| Incremental cost-effectiveness of algorithm-driven genetic testing versus no testing for Maturity Onset Diabetes of the Young (MODY) in Singapore |
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| Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy |
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| Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix |
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| <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity |
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| Regulating the advertising of genetic tests in Europe: a balancing act |
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| Their loss is our gain: regressive evolution in vertebrates provides genomic models for uncovering human disease loci |
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| Mutations in<i>SCAPER</i>cause autosomal recessive retinitis pigmentosa with intellectual disability |
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| Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability |
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| Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations |
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| A common<i>SLC26A4</i>-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct |
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| Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry |
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| Rare, protein-truncating variants in<i>ATM</i>,<i>CHEK2</i>and<i>PALB2</i>, but not<i>XRCC2</i>, are associated with increased breast cancer risks |
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| Mutations in<i>MYO1H</i>cause a recessive form of central hypoventilation with autonomic dysfunction |
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| Novel idiopathic DCM-related
<i>SCN5A</i>
variants localised in DI-S4 predispose electrical disorders by reducing peak sodium current density |
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| Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies |
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| Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable<i>GLA</i>mutations following 6 months of migalastat treatment |
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| Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders |
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| A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges |
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| Assessing genome-wide copy number variation in the Han Chinese population |
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| Intermediate C9orf72 alleles in neurological disorders: does size really matter? |
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| Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices |
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| The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity |
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| A homozygous founder mutation in<i>TRAPPC6B</i>associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features |
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| Accurate quantification of chromosomal lesions via short tandem repeat analysis using minimal amounts of DNA |
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| First evidence of genotype–phenotype correlations in Gorlin syndrome |
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| Germline<i>CDKN2A</i>/P16INK4A mutations contribute to genetic determinism of sarcoma |
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| Loss of function in<i>ROBO1</i>is associated with tetralogy of Fallot and septal defects |
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| Mutation in TDRD9 causes non-obstructive azoospermia in infertile men |
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| A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children |
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| Genetic causes of optic nerve hypoplasia |
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| Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region |
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| Extracolonic cancer risk in Dutch patients with APC (adenomatous polyposis coli)-associated polyposis |
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| Pathology update to the Manchester Scoring System based on testing in over 4000 families |
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| The <i>BRCA1</i> c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium |
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| Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration |
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✓ |
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predominately European descent (n=643) |
| Missense mutations in the WD40 domain of<i>AHI1</i>cause non-syndromic retinitis pigmentosa |
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| Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar<i>DNMT3A</i>R882 mutation |
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| <i>LMNA</i>-associated partial lipodystrophy: anticipation of metabolic complications |
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| Confirmation of mutations in<i>PROSC</i>as a novel cause of vitamin B<sub><sub>6</sub></sub>-dependent epilepsy |
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| Somatic mosaicism containing double mutations in<i>PTCH1</i>revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome |
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| <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects |
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| De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy |
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| Comprehensive somatic genome alterations of urachal carcinoma |
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| Mutations in<i>EFL1</i>, an<i>SBDS</i>partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome |
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| Genetics implicate common mechanisms in autism and schizophrenia: synaptic activity and immunity |
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| Multiple signals at the extended 8p23 locus are associated with susceptibility to systemic lupus erythematosus |
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✓ |
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European-descent individuals |
| Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes |
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| Comprehensive pharmacogenetic profiling of the epidermal growth factor receptor pathway for biomarkers of response to, and toxicity from, cetuximab |
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| Homozygous mutation in<i>NUP107</i>leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome |
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| Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation |
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| <i>PBX1</i>haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans |
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| A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis |
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| KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1 |
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| Bi-allelic variants in<i>COL3A1</i>encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts |
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| A missense mutation in the<i>CRBN</i>gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family |
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| <i>STAG1</i>mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability |
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| <i>GPRASP2</i>, a novel causative gene mutated in an X-linked recessive syndromic hearing loss |
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| Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with<i>de novo</i>, heterozygous, loss-of-function mutations in<i>ASXL3</i>and review of published literature |
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| A liminal stage after predictive testing for Huntington disease |
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| Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause |
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| Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum |
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| No correlation between mtDNA amount and methylation levels at the CpG island of
<i>POLG</i>
exon 2 in wild-type and mutant human differentiated cells |
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