Johan T Den Dunnen

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Johan T Den



Publications in SciGraph latest 50 shown

  • 2019-03 Skewed X-inactivation is common in the general female population in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-12 Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing in GENOME BIOLOGY
  • 2017-02 A framework for the detection of de novo mutations in family-based sequencing data in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017 Describing Sequence Variants Using HGVS Nomenclature in GENOTYPING
  • 2016-12 A full-body transcriptome and proteome resource for the European common carp in BMC GENOMICS
  • 2016-11 Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) in SCIENTIFIC REPORTS
  • 2016-10-06 A high-quality human reference panel reveals the complexity and distribution of genomic structural variants in NATURE COMMUNICATIONS
  • 2015-12 Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels in NATURE COMMUNICATIONS
  • 2015-11 The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease in PEDIATRIC NEPHROLOGY
  • 2015-03 Selection and characterization of llama single domain antibodies against N-terminal huntingtin in NEUROLOGICAL SCIENCES
  • 2014-12 The genomic landscape of the verrucomicrobial methanotroph Methylacidiphilum fumariolicum SolV in BMC GENOMICS
  • 2014-12 Determining the quality and complexity of next-generation sequencing data without a reference genome in GENOME BIOLOGY
  • 2014-11 Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’ in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-10 Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping in NATURE BIOTECHNOLOGY
  • 2014-09 RNA sequencing: from tag-based profiling to resolving complete transcript structure in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2014-08 Whole-genome sequence variation, population structure and demographic history of the Dutch population in NATURE GENETICS
  • 2014-04 A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-04 Detecting authorized and unauthorized genetically modified organisms containing vip3A by real-time PCR and next-generation sequencing in ANALYTICAL AND BIOANALYTICAL CHEMISTRY
  • 2014-03 Corrigendum: Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories in NATURE BIOTECHNOLOGY
  • 2014-02 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling in NATURE GENETICS
  • 2014-02 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database in NATURE GENETICS
  • 2014-02 The Genome of the Netherlands: design, and project goals in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-11 Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories in NATURE BIOTECHNOLOGY
  • 2013-06 The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome in FAMILIAL CANCER
  • 2013-05 Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-05 Transcriptional responses indicate attenuated oxidative stress in the springtail Folsomia candida exposed to mixtures of cadmium and phenanthrene in ECOTOXICOLOGY
  • 2012-12 Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement in NATURE GENETICS
  • 2012-12 Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 in NATURE GENETICS
  • 2012-12 Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA in BMC GENOMICS
  • 2012-04 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome in NATURE GENETICS
  • 2011-12 A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form in BMC BIOINFORMATICS
  • 2011-12 Mutation (variation) databases and registries: a rationale for coordination of efforts in NATURE REVIEWS GENETICS
  • 2011-12 Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy in BMC MEDICAL GENOMICS
  • 2011-12 High throughput nano-liter RT-qPCR to classify soil contamination using a soil arthropod in BMC MOLECULAR BIOLOGY
  • 2011-09 Reply to Clarity and claims in variation/mutation databasing in NATURE BIOTECHNOLOGY
  • 2011-03-29 The value of data in NATURE GENETICS
  • 2011-02 MutaDATABASE: a centralized and standardized DNA variation database in NATURE BIOTECHNOLOGY
  • 2011-01 Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-01 Experiences with array-based sequence capture; toward clinical applications in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-12 New methods for next generation sequencing based microRNA expression profiling in BMC GENOMICS
  • 2010-09 Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy in LABORATORY INVESTIGATION
  • 2010-09 Therapeutic exon skipping for dysferlinopathies? in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-08 Therapeutic exon skipping for dysferlinopathies? in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-04 Locus Reference Genomic sequences: an improved basis for describing human DNA variants in GENOME MEDICINE
  • 2009-12 Large scale single nucleotide polymorphism discovery in unsequenced genomes using second generation high throughput sequencing technology: applied to turkey in BMC GENOMICS
  • 2009-12 Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection in BMC BIOTECHNOLOGY
  • 2009-12 Application of massive parallel sequencing to whole genome SNP discovery in the porcine genome in BMC GENOMICS
  • 2009-12 Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humans in BMC GENETICS
  • 2009-12 Identification of a region required for TSC1 stability by functional analysis of TSC1missense mutations found in individuals with tuberous sclerosis complex in BMC MEDICAL GENETICS
  • 2008-12 Can subtle changes in gene expression be consistently detected with different microarray platforms? in BMC GENOMICS
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