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,...
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes (2008)
Sharp, Andrew J, Baker, Carl, Itsara, Andy, Jiang, Zhaoshi, Buysse, Karen, ...
Background: Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of...
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...
Characterization of a recurrent 15q24 microdeletion syndrome (2007)
Sharp, Andrew J., Selzer, Rebecca R., Veltman, Joris A., Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, ...
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7–3.9 Mb in size). High-resolution analysis showed that in three patients both...
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...
Characterization of a recurrent 15q24 microdeletion syndrome (2007)
Sharp, Andrew J, Selzer, Rebecca R, Veltman, Joris A, Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, ...
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7-3.9 Mb in size). High resolution analysis showed that in three patients both...
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...
Heidenblad, Markus, Lindgren, David, Veltman, Joris A, Jonson, Tord, Mahlamäki, Eija H, Gorunova, Ludmila, ...
Abstract is not available
Heidenblad, Markus, Jonson, Tord, Gorunova, Ludmila, Veltman, Joris A, Van Kessel, Ad Geurts, ...
Abstract is not available
Grygalewicz, Beata, Gillis, Ad J M, Van De Vliet, Walter, ...
All invasive testicular germ cell tumors of adolescents and adults (TGCTs), that is, seminomas and nonseminomas, show gain of 12p sequences, mostly as isochromosomes. Although several candidate genes...
Joris A. Veltman, Jane Fridlyand, Sunanda Pejavar, Adam B. Olshen, James E., James E. Korkola, ...
Genome-wide copy number profiles were characterized in 41 primary bladder tumors using array-based comparative genomic hybridization (array CGH). In addition to previously identified alterations in...
Chromosome instability as an indicator of malignant progression in laryngeal mucosa (2000)
Veltman, Joris A., Bot, Frederik J., Huynen, Ference C., Ramaekers, Frans C.S., Manni, Johannes J.
Veltman, Joris A., 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...
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...
Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients
Vrijenhoek, Terry, Buizer-Voskamp, Jacobine E., Van Der Stelt, Inge, Strengman, Eric, Sabatti, Chiara, Geurts Van Kessel, Ad, ...
Schizophrenia is a severe psychiatric disease with complex etiology, affecting approximately 1% of the general population. Most genetics studies so far have focused on disease association with common...
Forging Links between Human Mental Retardation–Associated CNVs and Mouse Gene Knockout Models
Webber, Caleb, Hehir-Kwa, Jayne Y., Nguyen, Duc-Quang, Veltman, Joris A., Ponting, Chris P.
Rare copy number variants (CNVs) are frequently associated with common neurological disorders such as mental retardation (MR; learning disability), autism, and schizophrenia. CNV screening in...