| Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol |
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| Integrative network and brain expression analysis reveals mechanistic modules in ataxia |
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| Should pretest genetic counselling be required for patients pursuing genomic sequencing? Results from a survey of participants in a large genomic implementation study |
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| Does multilocus inherited neoplasia alleles syndrome have severe clinical expression? |
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| Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning |
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| Biallelic mutations in <i>USP45,</i> encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis |
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| <i>MYCN</i>de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome |
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| Breast cancer risk in neurofibromatosis type 1 is a function of the type of <i>NF1</i> gene mutation: a new genotype-phenotype correlation |
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| T cell dysfunction in chronic hepatitis B infection and liver cancer: evidence from transcriptome analysis |
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| CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy |
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| Meiotic chromatid recombination and segregation assessed with human single cell genome sequencing data |
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| Kabuki syndrome: international consensus diagnostic criteria |
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| MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive<i>c</i>erebellar,<i>o</i>cular, cranio<i>f</i>acial and<i>g</i>enital features (COFG syndrome) |
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| De novo mutation in<i>ELOVL1</i>causes ichthyosis,<i>acanthosis nigricans</i>, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy |
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| Biallelic disruption of<i>PKDCC</i>is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features |
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| Screening of <i>BRCA1/2</i> deep intronic regions by targeted gene sequencing identifies the first germline <i>BRCA1</i> variant causing pseudoexon activation in a patient with breast/ovarian cancer |
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✓ |
✓ |
Spanish population |
| <i>SEC31A</i> mutation affects ER homeostasis, causing a neurological syndrome |
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| Practice evaluation of biobank ethics and governance: current needs and future perspectives |
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| Correction: <i>Tumour risks and genotype-phenotype correlations associated with germline variants in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD</i> |
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| From gestalt to gene: early predictive dysmorphic features of PMM2-CDG |
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| Cancer immunotherapy: challenges and clinical applications |
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| Novel homozygous<i>CFAP69</i>mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella |
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✓ |
✓ |
Han Chinese |
| Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy |
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| Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying <i>MME</i> mutations |
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| Reclassification of <i>BRCA1</i> and <i>BRCA2</i> variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort |
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✓ |
✓ |
Korean |
| Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features |
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| Assessment of parental mosaicism in <i>SCN1A</i>-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing |
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| Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to<i>EFNA5</i>,<i>BAHD1</i>and<i>PPP2R5E</i>as novel candidates for genes causing human Mendelia |
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| Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options |
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| Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank |
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✓ |
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✓ |
✓ |
white British or Irish origin |
| Novel <i>ASCC1</i> mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures |
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| Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood |
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| De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy |
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| Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndrome |
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| 10q23.31 microduplication encompassing <i>PTEN</i> decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly |
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| Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline <i>CDKN2A</i> mutations |
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| PEHO syndrome: the endpoint of different genetic epilepsies |
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| Haemophagocytic lymphohistiocytosis complicating pembrolizumab treatment for metastatic breast cancer in a patient with the <i>PRF1A91V</i> gene polymorphism |
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| Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors: results from the prospective TEDDY study |
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| Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature |
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| 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations |
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| Mosaicism and incomplete penetrance of <i>PCDH19</i> mutations |
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| Correction: <i>A common</i> SLC26A4<i>-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct</i> |
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| Common variants at 5q33.1 predispose to migraine in African-American children |
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✓ |
✓ |
✓ |
European adults; African-American; African Americans; African-American ancestry; ancestry-matched controls |
| Correction: <i>Genetic variants in CHI3L1 influencing YKL-40 levels: resequencing 900 individuals and genotyping 9000 individuals from the general population</i> |
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| Genome sequencing reveals a deep intronic splicing <i>ACVRL1</i> mutation hotspot in Hereditary Haemorrhagic Telangiectasia |
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| Leveraging the power of new molecular technologies in the clinical setting requires unprecedented awareness of limitations and drawbacks: experience of one diagnostic laboratory |
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| Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology |
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| Bayesian approach to determining penetrance of pathogenic SDH variants |
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| Long-read sequencing identified intronic repeat expansions in<i>SAMD12</i>from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy |
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| Significance of non-coding circular RNAs and micro RNAs in the pathogenesis of cardiovascular diseases |
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| Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort |
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✓ |
✓ |
Mediterranean adult population-based cohort study from the south of Europe; large British ancestry c |
| Non-<i>HFE</i> mutations in haemochromatosis in China: combination of heterozygous mutations involving <i>HJV</i> signal peptide variants |
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| Bi-allelic mutations in <i>TRAPPC2L</i> result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts |
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| Homozygosity for the c.428delG variant in <i>KIAA0586</i> in a healthy individual: implications for molecular testing in patients with Joubert syndrome |
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| Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM) |
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| Homozygous variants in <i>KIAA1549</i>, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa |
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| Global microarray profiling identified<i>hsa_circ_0064428</i>as a potential immune-associated prognosis biomarker for hepatocellular carcinoma |
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| Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening |
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| Use of zebrafish models to investigate rare human disease |
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| Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis |
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|
✓ |
✓ |
CEU ("1000 Genomes Project CEU subject NA12878") |
| Mutations in IRS4 are associated with central hypothyroidism |
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| Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children |
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| Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap |
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| XRCC2 mutation causes meiotic arrest, azoospermia and infertility |
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| Bacteria-free minicircle DNA system to generate integration-free CAR-T cells |
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| Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay |
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| Fine mapping MHC associations in Graves’ disease and its clinical subtypes in Han Chinese |
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| Exosomes derived from exhausted CD8+ T cells impaired the anticancer function of normal CD8+ T cells |
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| Comprehensive overview of the pharmacogenetic diversity in Ashkenazi Jews |
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| Genetic obesity: next-generation sequencing results of 1230 patients with obesity |
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| Applications and advances of CRISPR-Cas9 in cancer immunotherapy |
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| Novel pathogenic<i>SMAD2</i>variants in five families with arterial aneurysm and dissection: further delineation of the phenotype |
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| Upregulated immune checkpoint HHLA2 in clear cell renal cell carcinoma: a novel prognostic biomarker and potential therapeutic target |
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| Genetics of neuromuscular fetal akinesia in the genomics era |
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| Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect |
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| Establishing the role of <i>PLVAP</i> in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype |
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| Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses |
|
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|
✓ |
|
|
non-western European populations |
| Mitochondrial <i>PITRM1</i> peptidase loss-of-function in childhood cerebellar atrophy |
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| Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome |
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| Correction: <i>Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing</i> |
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| Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study |
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| Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study |
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| Old gene, new phenotype: splice-altering variants in <i>CEACAM16</i> cause recessive non-syndromic hearing impairment |
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| Genetic and phenotypic difference in CD8<sup>+</sup> T cell exhaustion between chronic hepatitis B infection and hepatocellular carcinoma |
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| Correction: <i>Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study</i> |
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| Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group |
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| CM-Score: a validated scoring system to predict <i>CDKN2A</i> germline mutations in melanoma families from Northern Europe |
|
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|
|
✓ |
✓ |
Northern Europe; Dutch; Swedish |
| Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy |
|
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|
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| <i>In vivo</i>bioassay to test the pathogenicity of missense human<i>AIP</i>variants |
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|
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| Current detection rates and time-to-detection of all identifiable <i>BRCA</i> carriers in the Greater London population |
|
|
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|
✓ |
✓ |
Ashkenazi Jewish (AJ) populations |
| Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features |
|
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| Biochemical and molecular characterisation of neurological Wilson disease |
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|
✓ |
✓ |
Korean |
| Retrospective natural history of thymidine kinase 2 deficiency |
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| Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disorders |
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| New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) |
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| Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring |
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| Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome |
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| Inframe deletion of human <i>ESPN</i> is associated with deafness, vestibulopathy and vision impairment |
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| 2017 Thank you to our reviewers |
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| Monosomy 18p is a risk factor for facioscapulohumeral dystrophy |
|
✓ |
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| Mainstreamed genetic testing for women with ovarian cancer: first-year experience |
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| Homozygous <i>CHST11</i> mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly |
|
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| Multiplex genomewide association analysis of breast milk fatty acid composition extends the phenotypic association and potential selection of <i>FADS1</i> variants to arachidonic acid, a critical infa |
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| Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes |
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| Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome |
|
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| Dominant <i>ELOVL1</i> mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features |
|
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|
| Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada |
|
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| Penetrance estimates for <i>BRCA1</i>, <i>BRCA2</i> (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk? |
|
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| New insights into SERCA2a gene therapy in heart failure: pay attention to the negative effects of B-type natriuretic peptides |
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| Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients |
|
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| Comprehensive analysis of the <i>MLH1</i> promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional <i>MLH1</i> epimut |
|
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| A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth |
|
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|
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|
✓ |
✓ |
Japanese |
| Genome-wide association study identifies <i>ERBB4</i> on 2q34 as a novel locus associated with sperm motility in Japanese men |
|
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|
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| Mutation of <i>IFNLR1</i>, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss |
|
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|
|
✓ |
✓ |
a large Chinese family |
| Correction to: <i>Correction: FOXP1-related intellectual disability syndrome: a recognisable entity</i> |
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| Risk category system to identify pituitary adenoma patients with <i>AIP</i> mutations |
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| Genetic tests in lymphatic vascular malformations and lymphedema |
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| Evidence for genetic anticipation in vonHippel-Lindau syndrome |
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| Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study |
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| Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) |
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| Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i> |
|
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| <i>FAM46A</i>mutations are responsible for autosomal recessive osteogenesis imperfecta |
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| High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency |
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| Catalogue of inherited disorders found among the Irish Traveller population |
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| Variant in C-terminal region of intestinal alkaline phosphatase associated with benign familial hyperphosphatasaemia |
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| A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews |
|
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|
✓ |
✓ |
Ashkenazi Jews; Kavkazi Jews; 'population groups' |
| <i>DMC1</i> mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing |
|
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|
✓ |
✓ |
Chinese |
| Risk factors for survival in patients with von Hippel-Lindau disease |
|
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|
✓ |
✓ |
Chinese |
| Role of germline aberrations affecting <i>CTNNA1</i>, <i>MAP3K6</i> and <i>MYD88</i> in gastric cancer susceptibility |
|
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| Fabry Disease: prevalence of affected males and heterozygotes with pathogenic <i>GLA</i> mutations identified by screening renal, cardiac and stroke clinics, 1995–2017 |
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| Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated spermatozoa syndrome |
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| Gene editing as a promising approach for respiratory diseases |
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