| Corrections |
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| Corrections |
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| The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy |
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| Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in<i>PIGW</i>is associated with West syndrome and hyperphosphatasia with mental retardation syndrome |
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| Mutations in<i>SDHD</i>lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency |
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| Direct-to-consumer pharmacogenomic testing is associated with increased physician utilisation |
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| A new scoring system in cancer genetics: application to criteria for<i>BRCA1</i>and<i>BRCA2</i>mutation screening |
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| A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus |
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| <i>KIF1C</i>mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction |
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| Correlation between<i>FMR1</i>expression and clinical phenotype in discordant dichorionic–diamniotic monozygotic twin sisters with the fragile x mutation |
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| The<i>HNF4A</i>R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype |
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| Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations |
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| Ovarian cancer familial relative risks by tumour subtypes and by known ovarian cancer genetic susceptibility variants |
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| A type I interferon signature identifies bilateral striatal necrosis due to mutations in<i>ADAR1</i> |
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| Fanconi anaemia,<i>BRCA2</i>mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling |
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| Spectrum of<i>RB1</i>mutations identified in 403 retinoblastoma patients |
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| Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis |
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| Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal |
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| Different mutations in<i>PDE4D</i>associated with developmental disorders with mirror phenotypes |
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| Combined exome and whole-genome sequencing identifies mutations in<i>ARMC4</i>as a cause of primary ciliary dyskinesia with defects in the outer dynein arm |
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| Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia |
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| A novel heterozygous<i>OPA3</i>mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network |
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| 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder |
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| Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing |
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| Somatic point mutations occurring early in development: a monozygotic twin study |
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| Autism traits in the RASopathies |
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| A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in<i>PHF6</i>in seven females with a distinct phenotype |
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| Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada? |
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| Genetic variants in<i>CHI3L1</i>influencing YKL-40 levels: resequencing 900 individuals and genotyping 9000 individuals from the general population |
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| <i>CDKN1C</i>mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome |
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| A novel mutation in<i>KIAA0196</i>: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort |
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| Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3 |
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| Association analyses identifying two common susceptibility loci shared by psoriasis and systemic lupus erythematosus in the Chinese Han population |
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✓ |
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Chinese Han population |
| Novel cases of D-2-hydroxyglutaric aciduria with<i>IDH1</i>or<i>IDH2</i>mosaic mutations identified by amplicon deep sequencing |
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| Genome-wide association study of sex hormones, gonadotropins and sex hormone–binding protein in Chinese men |
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| Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis |
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| Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit<i>BBIP1</i>(<i>BBS18</i>) |
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| The busy physician's guide to genetics, genomics and personalized medicine |
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| Deletion of the 5′exons of<i>COL4A6</i>is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome |
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| Criteria and prediction models for mismatch repair gene mutations: a review |
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| Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss |
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| A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance |
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| Victor McKusick and the History of Medical Genetics |
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| CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease |
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| Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing |
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| Advances in osteoarthritis genetics: Table 1 |
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| Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing |
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| Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders |
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| Confirmation of papillary thyroid cancer susceptibility loci identified by genome-wide association studies of chromosomes 14q13, 9q22, 2q35 and 8p12 in a Chinese population |
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| An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST) |
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| Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size |
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| Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome |
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| Support of the histaminergic hypothesis in Tourette Syndrome: association of the histamine decarboxylase gene in a large sample of families |
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| <i>FGFR1</i>mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly |
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| Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis |
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| Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing |
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| West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation |
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| Advancing genetic testing for deafness with genomic technology |
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| Associations of common variants in<i>HFE</i>and<i>TMPRSS6</i>with iron parameters are independent of serum hepcidin in a general population: a replication study |
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| Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy |
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| Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics |
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| Digenic inheritance in medical genetics |
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| A<i>de novo</i>X;8 translocation creates a<i>PTK2</i>-<i>THOC2</i>gene fusion with<i>THOC2</i>expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia |
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| Recessive truncating<i>NALCN</i>mutation in infantile neuroaxonal dystrophy with facial dysmorphism |
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| Identification of well-differentiated gene expressions between Han Chinese and Japanese using genome-wide microarray data analysis |
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| <i>CNVinspector:</i>a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts |
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| <i>CDH1</i>germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study |
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| Whole exome sequencing identifies<i>FGF16</i>nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion |
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| Refining the role of<i>pms2</i>in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants |
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| WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype |
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| New and recurrent gain-of-function<i>STAT1</i>mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe |
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| Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome |
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| A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies |
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| Next generation diagnostics of cystic fibrosis and<i>CFTR</i>-related disorders by targeted multiplex high-coverage resequencing of<i>CFTR</i> |
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| Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly |
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| An X chromosome-wide association analysis identifies variants in<i>GPR174</i>as a risk factor for Graves’ disease |
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| No evidence for locus heterogeneity in Knobloch syndrome |
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| <i>GATAD2B</i>loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in<i>Drosophila</i> |
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| Upregulation of<i>RCAN1</i>causes Down syndrome-like immune dysfunction |
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| Phenotype and genotype in 101 males with X-linked creatine transporter deficiency |
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| A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in<i>PIGT</i> |
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| Mutation in<i>ADAT3</i>, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus |
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| A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency |
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| Risk of thyroid cancer in first-degree relatives of patients with non-medullary thyroid cancer by histology type and age at diagnosis: a joint study from five Nordic countries |
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| <i>TBX4</i>mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension |
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| Meta-analysis of genome-wide studies identifies<i>MEF2C</i>SNPs associated with bone mineral density at forearm |
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| Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations |
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| Rhizomelic chondrodysplasia punctata and cardiac pathology |
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| A new seipin-associated neurodegenerative syndrome |
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| Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting<i>BRCA1/2</i>mutation carrier probabilities: a study based on 7352 families from th |
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| Impact of direct-to-consumer genomic testing at long term follow-up |
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| Identification of chromosome 3q28 and<i>ALPK1</i>as susceptibility loci for chronic kidney disease in Japanese individuals by a genome-wide association study |
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| Ovarian cancer among 8005 women from a breast cancer family history clinic: no increased risk of invasive ovarian cancer in families testing negative for<i>BRCA1</i>and<i>BRCA2</i> |
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| Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature |
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| Recent advances in the genetics of sarcoidosis |
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| High rate of mosaicism in individuals with Cornelia de Lange syndrome |
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| Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci |
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✓ |
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✓ |
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European; Mexicans |
| Correction |
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| Recent advances in the molecular genetics of epilepsy |
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| Genetics of arrhythmogenic right ventricular cardiomyopathy |
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| Exome sequencing identifies<i>DYNC2H1</i>mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement |
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| Mutations in WNT1 are a cause of osteogenesis imperfecta |
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| <i>ARHGDIA</i>: a novel gene implicated in nephrotic syndrome |
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| Exome sequencing identifies mutations in the gene<i>TTC7A</i>in French-Canadian cases with hereditary multiple intestinal atresia |
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✓ |
|
French-Canadian |
| From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease |
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| Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing |
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| Correction |
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| Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in<i>SLC25A1</i>encoding the mitochondrial citrate transporter |
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| CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders |
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| Melanoma prone families with<i>CDK4</i>germline mutation: phenotypic profile and associations with<i>MC1R</i>variants |
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| Mutations in<i>POLR3A</i>and<i>POLR3B</i>are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism |
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| Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis |
|
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| Meta-analysis identifies a<i>MECOM</i>gene as a novel predisposing factor of osteoporotic fracture |
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| Mutations in<i>TMEM231</i>cause Meckel–Gruber syndrome |
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| Skewed X-inactivation patterns in ageing healthy and myelodysplastic haematopoiesis determined by a pyrosequencing based transcriptional clonality assay |
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| Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success |
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| Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy |
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| Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families |
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| Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation |
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| High cumulative risks of cancer in patients with<i>PTEN</i>hamartoma tumour syndrome |
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| Mutations of<i>NANOS1</i>, a human homologue of the<i>Drosophila</i>morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia |
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| Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome |
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| Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital mal |
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| Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy |
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| Genome-wide significant association of<i>ANKRD55</i>rs6859219 and multiple sclerosis risk |
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| Role of<i>PRRT2</i>in common paroxysmal neurological disorders: a gene with remarkable pleiotropy |
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| <i>TBC1D24</i>truncating mutation resulting in severe neurodegeneration |
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