Rolph Pfundt

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,...

Reduced purifying selection prevails over positive selection in human copy number variant evolution (2008)

Nguyen, Duc-Quang, Webber, Caleb, Hehir-Kwa, Jayne, Pfundt, Rolph, Veltman, Joris, Ponting, Chris P.

Copy number variation is a dominant contributor to genomic variation and may frequently underlie an individual’s variable susceptibilities to disease. Here we question our previous proposition that...

Diet-induced hyperhomocysteinemia does not lead to large gene-expression differences in rat aorta (2007)

Heil, Sandra G., Kluijtmans, Leo A., De Vriese, An S., Pfundt, Rolph, Blom, Henk J.

Cellular stress in the epidermis : adapt or die! (2002)

Pfundt, Rolph

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...

Reduced purifying selection prevails over positive selection in human copy number variant evolution

Nguyen, Duc-Quang, Webber, Caleb, Hehir-Kwa, Jayne, Pfundt, Rolph, Veltman, Joris, Ponting, Chris P.

Copy number variation is a dominant contributor to genomic variation and may frequently underlie an individual’s variable susceptibilities to disease. Here we question our previous proposition that...