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Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0074-3
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- Article
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0073-4
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TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0072-5
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- Article
Complex genetics of female fertility.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0068-1
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Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0070-7
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A phenotype centric benchmark of variant prioritisation tools.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. 1, doi. 10.1038/s41525-018-0044-9
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New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0069-0
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- Article
Gene panel testing for breast cancer should not be used to confirm syndromic gene associations.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0071-6
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- Article
HHV-6 encoded small non-coding RNAs define an intermediate and early stage in viral reactivation.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0064-5
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FDA guidance for next generation sequencing-based testing: balancing regulation and innovation in precision medicine.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0067-2
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Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0066-3
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User considerations in assessing pharmacogenomic tests and their clinical support tools.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0065-4
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- Article
Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0063-6
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- Article
A phenotype centric benchmark of variant prioritisation tools.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0044-9
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- Article
Chemical genetic-based phenotypic screen reveals novel regulators of gluconeogenesis in human primary hepatocytes.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0062-7
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- Article
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0061-8
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- Article
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0060-9
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- Article
1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0059-2
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- Article
Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0058-3
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Responsible sharing of biomedical data and biospecimens via the "Automatable Discovery and Access Matrix" (ADA-M).
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0057-4
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- Article
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0056-5
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Signaling pathway screening platforms are an efficient approach to identify therapeutic targets in cancers that lack known driver mutations: a case report for a cancer of unknown primary origin.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0055-6
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- Article
Identification of an immune gene expression signature associated with favorable clinical features in Treg-enriched patient tumor samples.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0054-7
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Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0053-8
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Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0052-9
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Mutation load estimation model as a predictor of the response to cancer immunotherapy.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0051-x
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Predictors of next-generation sequencing panel selection using a shared decision-making approach.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0050-y
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- Article
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0049-4
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Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0048-5
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Improving imputation in disease-relevant regions: lessons from cystic fibrosis.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0047-6
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Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0046-7
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The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0045-8
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Whole-genome transcriptomic insights into protective molecular mechanisms in metabolically healthy obese African Americans.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0043-x
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Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0042-3
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A robust targeted sequencing approach for low input and variable quality DNA from clinical samples.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0041-4
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Pan-cancer screen for mutations in non-coding elements with conservation and cancer specificity reveals correlations with expression and survival.
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- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0040-5
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