Johan T den Dunnen

发表

Reporting of Genetic Variants by Diagnostic Laboratories and other Centres.

John-Paul Plazzer, Johan T den Dunnen, Timothy Smith, 2012, The Clinical biochemist. Reviews.

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Dan Milea, Johan T den Dunnen, Xavier Zanlonghi, 2019, Orphanet journal of rare diseases.

Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (technical report 2017).

Johan T den Dunnen, Graham Taylor, Ulla M Petersen, 2018, Clinica chimica acta; international journal of clinical chemistry.

A common reference for cDNA microarray hybridizations.

Johan T den Dunnen, Ellen Sterrenburg, Rolf Turk, 2002, Nucleic acids research.

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

Johan T den Dunnen, J. D. den Dunnen, G. V. van Ommen, 2003, Genome Biology.

Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

Jan Komorowski, Robin Andersson, Johan T den Dunnen, 2008, American journal of human genetics.

New methods for next generation sequencing based microRNA expression profiling

Johan T den Dunnen, J. D. den Dunnen, H. Buermans, 2010, BMC Genomics.

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.

Johan T den Dunnen, Shuji Ogino, M. Gulley, 2007, The Journal of molecular diagnostics : JMD.

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

Johan T den Dunnen, J. D. den Dunnen, G. V. van Ommen, 2012, BMC Genomics.

Guidelines for establishing locus specific databases

Mauno Vihinen, Raymond Dalgleish, Johan T den Dunnen, 2012, Human mutation.

Planning the Human Variome Project: The Spain report

Toshio Kojima, John M. Hancock, Sue Povey, 2009, Human mutation.

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

Johan T den Dunnen, Hindrik HD Kerstens, M. Groenen, 2009, BMC Genomics.

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

Johan T den Dunnen, P. Taschner, J. D. den Dunnen, 2008, Human mutation.

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.

Johan T den Dunnen, Martijn H Breuning, Michel P. Villerius, 2002, American journal of human genetics.

Sharing data between LSDBs and central repositories

Sue Povey, Mauno Vihinen, Johan T den Dunnen, 2009, Human mutation.

Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells.

Johan T den Dunnen, R. Roos, G. van Ommen, 2002, Human molecular genetics.

Deep sequencing to reveal new variants in pooled DNA samples

Detlef Weigel, Johan T den Dunnen, Jelle J Goeman, 2009, Human mutation.

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

Johan T den Dunnen, Martijn H Breuning, Dorien J M Peters, 2005, American journal of human genetics.

Gene expression variation between mouse inbred strains

Johan T den Dunnen, Renée X de Menezes, Ellen Sterrenburg, 2004, BMC Genomics.

The Human Variome Project

Sue Povey, Johan T den Dunnen, Anthony J Brookes, 2008, Science.

Phage display screening without repetitious selection rounds.

Johan T den Dunnen, Peter A C 't Hoen, Hans Heemskerk, 2012, Analytical biochemistry.

Local dystrophin restoration with antisense oligonucleotide PRO051.

Johan T den Dunnen, G. van Ommen, J. D. den Dunnen, 2007, The New England journal of medicine.

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

Johan T den Dunnen, K. Bushby, J. D. den Dunnen, 2008, Human molecular genetics.

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

Johan T den Dunnen, Simon Heath, Fernando Rivadeneira, 2008, American journal of human genetics.

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

Gunnar Rätsch, Brian Craft, David Haussler, 2018, PLoS genetics.

Application of massive parallel sequencing to whole genome SNP discovery in the porcine genome

Johan T den Dunnen, Andreia J. Amaral, Hindrik HD Kerstens, 2009, BMC Genomics.

Describing structural changes by extending HGVS sequence variation nomenclature

Johan T den Dunnen, P. Taschner, J. D. den Dunnen, 2011, Human mutation.

Describing Sequence Variants Using HGVS Nomenclature.

Johan T den Dunnen, J. D. den Dunnen, 2017, Methods in molecular biology.