| A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHA |
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| Outcome of 24 years national surveillance in different hereditary colorectal cancer subgroups leading to more individualised surveillance |
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| Compound heterozygosity for severe and hypomorphic<i>NDUFS2</i>mutations cause non-syndromic LHON-like optic neuropathy |
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| Genetics of idiopathic pulmonary fibrosis: from mechanistic pathways to personalised medicine |
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| Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B |
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| Decreased telomere length in children with cartilage-hair hypoplasia |
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| Precise long non-coding RNA modulation in visual maintenance and impairment |
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| The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes |
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| Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of<i>KRT83</i>and is allelic with dominant monilethrix |
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| Genome-wide association study identifies variants in<i>HORMAD2</i>associated with tonsillectomy |
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| A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome |
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| The importance of dynamic re-analysis in diagnostic whole exome sequencing |
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| Diagnostic value of exome and whole genome sequencing in craniosynostosis |
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| Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency |
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| Genetic determinants of myocardial dysfunction |
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| Risk assessment of maternally inherited<i>SDHD</i>paraganglioma and phaeochromocytoma |
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| Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study |
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| The UCL low-density lipoprotein receptor gene variant database: pathogenicity update |
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| ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism |
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| Congenital valvular defects associated with deleterious mutations in the<i>PLD1</i>gene |
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| The cerebellum and embodied semantics: evidence from a case of genetic ataxia due to<i>STUB1</i>mutations |
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| <i>AMMECR1</i>: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis |
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| The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case–control study |
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| A<i>de novo</i>missense mutation of<i>GABRB2</i>causes early myoclonic encephalopathy |
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| Impact of subsidies on cancer genetic testing uptake in Singapore |
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| Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the<i>ERF</i>gene |
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| Erratum: The kinetochore protein,
<i>CENPF</i>
, is mutated in human ciliopathy and microcephaly phenotypes |
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| Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles |
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| A novel<i>TRAPPC11</i>mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima |
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| Mutations in the phosphatidylinositol glycan C (<i>PIGC</i>) gene are associated with epilepsy and intellectual disability |
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| <i>COA7</i>(<i>C1orf163</i><i>/RESA1</i>) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency |
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| New paradigms for<i>BRCA1</i>/<i>BRCA2</i>testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study |
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| Anxiety delivered direct-to-consumer: are we asking the right questions about the impacts of DTC genetic testing? |
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| Common cancers share familial susceptibility: implications for cancer genetics and counselling |
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| Carriers of a<i>VEGFA</i>enhancer polymorphism selectively binding CHOP/DDIT3 are predisposed to increased circulating levels of thyroid-stimulating hormone |
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| <i>CEP78</i>is mutated in a distinct type of Usher syndrome |
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| High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing |
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| Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders |
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| <i>SLC13A5</i>is the second gene associated with Kohlschütter–Tönz syndrome |
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| <i>PALB2</i>,<i>CHEK2</i>and<i>ATM</i>rare variants and cancer risk: data from COGS |
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| New insights into the genetic component of non-infectious uveitis through an Immunochip strategy |
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| Gastric cancer: somatic genetics as a guide to therapy |
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| <i>KCNA4</i>deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability |
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| Homozygous and compound heterozygous mutations in the<i>FBN1</i>gene: unexpected findings in molecular diagnosis of Marfan syndrome |
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| Meta-analysis of genome-wide association studies of HDL cholesterol response to statins |
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| <i>FOXP2</i>variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum |
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| Novel asymptomatic CNS findings in patients with<i>ACVR1/ALK2</i>mutations causing fibrodysplasia ossificans progressiva |
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| Erratum:<i>Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy</i> |
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| Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in<i>NONO</i> |
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| Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by<i>CLDN19</i>gene mutations |
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| Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations |
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✓ |
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French and Belgian populations |
| Survival and causes of death in patients with von Hippel-Lindau disease |
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| Phenotypic spectrum of<i>POLR3B</i>mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies |
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| Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder |
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| New insights in the molecular signature of advanced medullary thyroid cancer: evidence of a bad outcome of cases with double<i>RET</i>mutations |
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| De novo mtDNA point mutations are common and have a low recurrence risk |
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| Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy |
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| Eight further individuals with intellectual disability and epilepsy carrying bi-allelic<i>CNTNAP2</i>aberrations allow delineation of the mutational and phenotypic spectrum |
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| Mutations specific to the Rac-GEF domain of<i>TRIO</i>cause intellectual disability and microcephaly |
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| The clinical, biochemical and genetic features associated with<i>RMND1</i>-related mitochondrial disease |
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| Novel myosin-based therapies for congenital cardiac and skeletal myopathies |
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| De novo missense variants in<i>HECW2</i>are associated with neurodevelopmental delay and hypotonia |
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| Mutations in<i>MYT1</i>, encoding the myelin transcription factor 1, are a rare cause of OAVS |
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| De novo mutations of<i>KIAA2022</i>in females cause intellectual disability and intractable epilepsy |
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| Specifying the ovarian cancer risk threshold of ‘premenopausal risk-reducing salpingo-oophorectomy’ for ovarian cancer prevention: a cost-effectiveness analysis |
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| Mutations in<i>LTBP3</i>cause acromicric dysplasia and geleophysic dysplasia |
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| Correction |
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| Gain-of-function mutation in<i>TRPV4</i>identified in patients with osteonecrosis of the femoral head |
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| Novel<i>LMNA</i>mutations cause an aggressive atypical neonatal progeria without progerin accumulation |
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| Mutations in<i>HECW2</i>are associated with intellectual disability and epilepsy |
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| <i>SETD2</i>and<i>DNMT3A</i>screen in the Sotos-like syndrome French cohort |
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| Phenome-wide association study maps new diseases to the human major histocompatibility complex region |
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| Complex clonal mosaicism within microdissected intestinal metaplastic glands without concurrent gastric cancer |
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| Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation |
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| Mutations in<i>TUBB8</i>cause a multiplicity of phenotypes in human oocytes and early embryos |
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| A splicing mutation in<i>VPS4B</i>causes dentin dysplasia I |
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| Genes associated with common variable immunodeficiency: one diagnosis to rule them all? |
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| Clinical course of sly syndrome (mucopolysaccharidosis type VII) |
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| Erratum: A specific mutation in TBL1XR1 causes Pierpont syndrome |
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| Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that<i>XRCC2</i>is a Fanconi anaemia gene |
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| GATOR1 complex: the common genetic actor in focal epilepsies |
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| Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria |
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| Molecular findings from 537 individuals with inherited retinal disease |
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| Mutations in<i>CEP120</i>cause Joubert syndrome as well as complex ciliopathy phenotypes |
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| When chromatin organisation floats astray: the<i>Srcap</i>gene and Floating–Harbor syndrome |
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| Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data |
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| No evidence that protein truncating variants in<i>BRIP1</i>are associated with breast cancer risk: implications for gene panel testing |
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| Cystic cerebellar dysplasia and biallelic<i>LAMA1</i>mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects |
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| The genetic landscape and clinical implications of vertebral anomalies in VACTERL association |
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| A recurrent mitochondrial p.Trp22Arg<i>NDUFB3</i>variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype |
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| A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype |
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| Functional and genetic epidemiological characterisation of the<i>FFAR4</i>(<i>GPR120</i>) p.R270H variant in the Danish population |
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| Microduplications at the pseudoautosomal<i>SHOX</i>locus in autism spectrum disorders and related neurodevelopmental conditions |
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| Naturally occurring<i>BRCA2</i>alternative mRNA splicing events in clinically relevant samples |
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| Evidence of mutations in<i>RIC3</i>acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes |
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| Identification of biallelic<i>LRRK1</i>mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity |
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| Germline<i>RRAS2</i>mutations are not associated with Noonan syndrome |
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| Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in<i>ANGPTL4</i>determining fasting TG levels |
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| Deletions of 5′<i>HOXC</i>genes are associated with lower extremity malformations, including clubfoot and vertical talus |
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| Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry |
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| Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations |
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| Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis |
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| <i>AKAP2</i>identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis |
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| Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain |
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| Circular RNAs: a new frontier in the study of human diseases |
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| Prevalence of<i>BRCA1/2</i>germline mutations in 21 401 families with breast and ovarian cancer |
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| Risky business: getting a grip on BRIP |
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| Epigenetic inheritance of telomere length obscures identification of causative<i>PARN</i>locus |
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| COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma |
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| Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia |
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| Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism |
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| Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel |
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| Mutations in<i>EXOSC2</i>are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinc |
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| A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height |
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| <i>HSP110</i>T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer |
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| Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2 |
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| An interstitial deletion within 9p21.3 and extending beyond<i>CDKN2A</i>predisposes to melanoma, neural system tumours and possible haematological malignancies |
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| Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy |
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| Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy |
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| Multigene testing of moderate-risk genes: be mindful of the missense |
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| Molecular insights into development in humans:<i>Studies in Normal Development and Birth Defects</i> |
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| A specific mutation in<i>TBL1XR1</i>causes Pierpont syndrome |
|
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| The importance of genetic diagnosis for Duchenne muscular dystrophy |
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| Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome |
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| Gene editing of<i>DNAH11</i>restores normal cilia motility in primary ciliary dyskinesia |
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| <i>KCNT1</i>mutations in seizure disorders: the phenotypic spectrum and functional effects |
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| Current needs for human and medical genomics research infrastructure in low and middle income countries: Table 1 |
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| Identification of novel genetic causes of Rett syndrome-<i>like</i>phenotypes |
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