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List of works by Johan T Den Dunnen

242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread ⬇️

scientific article published on July 1, 1991

A common reference for cDNA microarray hybridizations

scientific article

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form

scientific article

AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

scientific article

CORE_TF: a user-friendly interface to identify evolutionary conserved transcription factor binding sites in sets of co-regulated genes

scientific article

Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle

scientific article

Can subtle changes in gene expression be consistently detected with different microarray platforms?

scientific article

Centromeric and noncentromeric ADE2-selectable fragmentation vectors for yeast artificial chromosomes in AB1380.

scientific article published on June 1997

Characterization and cell type distribution of a novel, major transcript of the Duchenne muscular dystrophy gene

scientific article published on April 1, 1992

Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.

scientific article published on December 1996

Complex SNP-related sequence variation in segmental genome duplications

scientific article

Comprehensive gene-expression survey identifies wif1 as a modulator of cardiomyocyte differentiation

scientific article

Construction of dystrophin fusion proteins to raise targeted antibodies to different epitopes

scientific article published on August 24, 1992

Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection

scientific article

Critical points for an accurate human genome analysis.

scientific article published on 4 May 2017

Decay of Sexual Trait Genes in an Asexual Parasitoid Wasp

scientific article

Detecting copy number changes in genomic DNA: MAPH and MLPA

scientific article published on 01 January 2004

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing ⬇️

scientific article published on October 17, 2001

Determining the quality and complexity of next-generation sequencing data without a reference genome

scientific article

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome

scientific article

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

scientific article (publication date: 11 November 2012)

Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy

scientific article

Efficient variant data preparation for Human Mutation manuscripts: Variants and phenotypes

scientific article published on 01 August 2019

Experiences with array-based sequence capture; toward clinical applications ⬇️

scientific article published on November 24, 2010

Expression of the Human Dp 71 (Apo-Dystrophin-1 ) Gene from a 760-kb DMD-YAC Transferred to Mouse Cells ⬇️

scientific article published on January 1, 1995

Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements ⬇️

scientific article published on October 31, 2011

Fluorescent labelling of cRNA for microarray applications

scientific article

Gene expression profiling highlights defective myogenesis in DMD patients and a possible role for bone morphogenetic protein 4.

scientific article

Gene expression profiling to monitor therapeutic and adverse effects of antisense therapies for Duchenne muscular dystrophy.

scientific article

Gene expression variation between mouse inbred strains

scientific article

GeneHopper: a web-based search engine to link gene-expression platforms through GenBank accession numbers ⬇️

scientific article published on April 25, 2003

Genome-wide assessment of differential roles for p300 and CBP in transcription regulation

scientific article

High throughput nano-liter RT-qPCR to classify soil contamination using a soil arthropod

scientific article (publication date: March 2011)

High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes ⬇️

scientific article published on May 1, 1995

High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes

scientific article published in July 1997

High-resolution melting analysis (HRMA): more than just sequence variant screening.

scientific article published on June 2009

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex

scientific article

Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA.

scientific article

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 ⬇️

scientific article published on October 1, 2010

Large scale single nucleotide polymorphism discovery in unsequenced genomes using second generation high throughput sequencing technology: applied to turkey

scientific article

Leiden Open Variation Database of the MUTYH gene

scientific article

Linkage between the beta B2 and beta B3 crystallin genes in man and rat: a remnant of an ancient beta-crystallin gene cluster

scientific article

Literature-aided interpretation of gene expression data with the weighted global test

scientific article

Literature-aided meta-analysis of microarray data: a compendium study on muscle development and disease

scientific article

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

scientific article

Mapping of dystrophin brain promoter: A deletion of this region is compatible with normal intellect ⬇️

scientific article published on January 1, 1991

Microarray retriever: a web-based tool for searching and large scale retrieval of public microarray data

scientific article

Morphology of a human-derived YAC in yeast meiosis

scientific article published on 01 November 1995

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

scientific article

New methods for next generation sequencing based microRNA expression profiling

scientific article

Novel protein-protein interactions inferred from literature context

scientific article (publication date: 18 November 2009)

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

scientific article

Phage display screening without repetitious selection rounds

scientific article

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

scientific article (publication date: November 2010)

Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame ⬇️

scientific article published on December 1, 1992

Protein truncation test

scientific article published on 01 September 2004

Reconstruction of the 2.4 Mb human DMD-gene by homologous YAC recombination

scientific article published on April 1, 1992

Reliable and controllable antibody fragment selections from Camelid non-immune libraries for target validation

scientific article

Reporting of Genetic Variants by Diagnostic Laboratories and other Centres ⬇️

scientific article (publication date: February 2012)

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis

scientific article

Serum protein profiling in mice: identification of Factor XIIIa as a potential biomarker for muscular dystrophy

scientific article

Sharing data between LSDBs and central repositories

scientific article

Single Molecule Sequencing of Free DNA from Maternal Plasma for Noninvasive Trisomy 21 Detection ⬇️

scientific article published on January 25, 2012

Skewed X-inactivation is common in the general female population

scientific article published on 14 December 2018

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges

scientific article

Standardizing mutation nomenclature: why bother?

scientific article published in September 2003

Targeting several CAG expansion diseases by a single antisense oligonucleotide

scientific article (publication date: 2011)

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

scientific article

The Complete Genome Sequence of the Murine Pathobiont Helicobacter typhlonius

scientific article

The DNA Bank: High-Security Bank Accounts to Protect and Share Your Genetic Identity

scientific article

The Genome of the Netherlands: design, and project goals

scientific article (publication date: February 2014)

The LOVD3 platform: efficient genome-wide sharing of genetic variants

scientific article published on 15 September 2021

The Matchmaker Exchange: a platform for rare disease gene discovery

scientific article

The effects of low levels of dystrophin on mouse muscle function and pathology

scientific article

The value of data

scientific article

Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene

scientific article

Transcriptional responses indicate attenuated oxidative stress in the springtail Folsomia candida exposed to mixtures of cadmium and phenanthrene

scientific article published on 13 March 2013

Using systematic nomenclature for CFTR variants: Improvement needed ⬇️

scientific article published on November 1, 2011

WHSC1, a 90 kb SET Domain-Containing Gene, Expressed in Early Development and Homologous to a Drosophila Dysmorphy Gene Maps in the Wolf-Hirschhorn Syndrome Critical Region and is Fused to IgH in t(1;14) Multiple Myeloma ⬇️

scientific article published on July 1, 1998

Yet another database?

scientific article published on 01 June 2018

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