Diagnostic genome profiling in mental retardation.
By B. D. de Vries, R. Pfundt, Martijn A. R. Leisink, D. Koolen, L. Vissers, I. Janssen, S. Reijmersdal, W. Nillesen, Erik Huys, N. Leeuw and 8 more. American Journal of Human Genetics, 2005
606 citations recorded by the source corpus.
Subfields: Genetics, Plant Science
View Paper: https://www.semanticscholar.org/paper/4ee62f8ed9be9210b6160dd1d86a1f27df200162
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In Genetics
- Catherine Lord
- A. Pickles
- Thomas Bourgeron
- Eric Fombonne
- Dan Pinkel
- Donna Albertson
- C. Betancur
- Daniel H. Geschwind
In Plant Science
- Dan Pinkel
- Donna Albertson
- Evan E. Eichler
- David Altshuler
- Stephen W. Scherer
- Steven A. McCarroll
- Edwin H. Cook Jr.
- Matthew E. Hurles
Citations in the corpus
- Copy number variation: new insights in genome diversity. (2006, background): “Genomic imbalances that appear to be inherited from a phenotypically normal parent are usually considered to be clinically less significant (Shaw-Smith et al. 2004; de Vries et al. 2005; Tyson et al. 2005).”
- A de novo paradigm for mental retardation (2010, background): “In agreement with this hypothesis, de novo copy number variations (CNVs) are a known cause of schizophrenia, autism and mental retardatio”
- Development of query strategies to identify a histologic lymphoma subtype in a large linked database system. (2006, positive): “Recent studies have demonstrated that large scale copy number variations exist in the human population (Conrad et al. 2006; de Vries et al. 2005; Hinds et al. 2006; Iafrate et al. 2004; McCarroll et al. 2006; Sebat et al. 2004; Tuzun et al. 2005).”
- Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome (2006, background): “3 have one or both breakpoints that are apparently very similar to rearrangements described previousl”
- Mapping autism risk loci using genetic linkage and chromosomal rearrangements (2007, background): “It overlaps the same region implicated in mental retardation and other anomalie”