Irene M. Janssen

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture (2009)

Bhatt, Samarth S., Janssen, Irene M., Xia, Zhilian, Lalani, Seema R., Pfundt, Rolph, ...

Genomic copy number variation (CNV) plays a major role in various human diseases as well as in normal phenotypic variability. For some recurrent disease-causing CNVs that convey genomic disorders,...

Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on Statistical Power Analysis (2007)

Hehir-Kwa, Jayne Y., Egmont-Petersen, Michael, Janssen, Irene M., Smeets, Dominique, Van Kessel, Ad Geurts, Veltman, Joris A.

Recently, comparative genomic hybridization onto bacterial artificial chromosome (BAC) arrays (array-based comparative genomic hybridization) has proved to be successful for the detection of...

Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on Statistical Power Analysis (2007)

Hehir-Kwa, Jayne Y., Egmont-Petersen, Michael, Janssen, Irene M., Smeets, Dominique, Van Kessel, Ad Geurts, Veltman, Joris A.

Recently, comparative genomic hybridization onto bacterial artificial chromosome (BAC) arrays (array-based comparative genomic hybridization) has proved to be successful for the detection of...

Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on Statistical Power Analysis (2007)

Hehir-Kwa, Jayne Y., Egmont-Petersen, Michael, Janssen, Irene M., Smeets, Dominique, Van Kessel, Ad Geurts, Veltman, Joris A.

Recently, comparative genomic hybridization onto bacterial artificial chromosome (BAC) arrays (array-based comparative genomic hybridization) has proved to be successful for the detection of...

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

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., 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...

Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on Statistical Power Analysis

Hehir-Kwa, Jayne Y., Egmont-Petersen, Michael, Janssen, Irene M., Smeets, Dominique, Van Kessel, Ad Geurts, Veltman, Joris A.

Recently, comparative genomic hybridization onto bacterial artificial chromosome (BAC) arrays (array-based comparative genomic hybridization) has proved to be successful for the detection of...