npj Genomic Medicine View Homepage


Ontology type: schema:Periodical      Open Access: True


Journal Info

START YEAR

2016

PUBLISHER

Nature Publishing Group UK

LANGUAGE

en

HOMEPAGE

http://www.nature.com/npjgenmed/

Recent publications latest 20 shown

  • 2019-12 Largescale population genomics versus deep phenotyping: Brute force or elegant pragmatism towards precision medicine
  • 2019-12 A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR
  • 2019-12 Integrative analysis with expanded DNA methylation data reveals common key regulators and pathways in cancers
  • 2019-12 Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico
  • 2019-12 Glucocorticoid-resistant B cell acute lymphoblastic leukemia displays receptor tyrosine kinase activation.
  • 2019-12 Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients
  • 2019-12 Both rare and common genetic variants contribute to autism in the Faroe Islands
  • 2018-12 Incorporating epilepsy genetics into clinical practice: a 360°evaluation
  • 2018-12 Identification of an immune gene expression signature associated with favorable clinical features in Treg-enriched patient tumor samples
  • 2018-12 Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders
  • 2018-12 The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
  • 2018-12 Complex genetics of female fertility
  • 2018-12 Responsible sharing of biomedical data and biospecimens via the “Automatable Discovery and Access Matrix” (ADA-M)
  • 2018-12 Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family
  • 2018-12 Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression
  • 2018-12 Gene panel testing for breast cancer should not be used to confirm syndromic gene associations
  • 2018-12 New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis
  • 2018-12 Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy
  • 2018-12 1q21.1 microduplication: large verbal–nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number
  • 2018-12 HHV-6 encoded small non-coding RNAs define an intermediate and early stage in viral reactivation
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