Joris A. Veltman

High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization

Veltman, Joris A., Schoenmakers, Eric F. P. M., Eussen, Bert H., Janssen, Irene, Merkx, Gerard, Van Cleef, Brigitte, ...

Telomeric chromosome rearrangements may cause mental retardation, congenital anomalies, and miscarriages. Automated detection of subtle deletions or duplications involving telomeres is essential for...

Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH

Veltman, Joris A., Jonkers, Yvonne, Nuijten, Inge, Janssen, Irene, Van der Vliet, Walter, Huys, Erik, ...

Deletions of the long arm of chromosome 18 occur in ∼1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in ∼66% of all patients who have a...

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

Vissers, Lisenka E. L. M., De Vries, Bert B. A., Osoegawa, Kazutoyo, Janssen, Irene M., Feuth, Ton, Choy, Chik On, ...

Microdeletions and microduplications, not visible by routine chromosome analysis, are a major cause of human malformation and mental retardation. Novel high-resolution, whole-genome technologies can...

Diagnostic Genome Profiling in Mental Retardation

De Vries, Bert B. A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E. L. M., Janssen, Irene M., ...

Mental retardation (MR) occurs in 2%–3% of the general population. Conventional karyotyping has a resolution of 5–10 million bases and detects chromosomal alterations in ∼5% of individuals with...