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Publications by Johan T. den Dunnen

Keratosis Follicularis Spinulosa Decalvans Is Caused by Mutations in MBTPS2

English

Detecting PKD1 Variants in Polycystic Kidney Disease Patients by Single-Molecule Long-Read Sequencing

English

Skewed X-Inactivation Is Common in the General Female Population

European Journal of Human Genetics

English

Comprehensive Gene-Expression Survey Identifies Wif1 as a Modulator of Cardiomyocyte Differentiation

Multidisciplinary

English

Centromeric and NoncentromericADE2-Selectable Fragmentation Vectors for Yeast Artificial Chromosomes in AB1380

Genome Research

English

Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

American Journal of Human Genetics

English

Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization

American Journal of Human Genetics

English

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

American Journal of Human Genetics

English

Planning the Human Variome Project: The Spain Report

English

Sharing Data Between LSDBs and Central Repositories

English