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Publications 2006

On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies.
Lohi H, Chan EM, Scherer SW, Minassian BA. Adv Neurol. 2006;97:399-415.
PMID: 16383151

Structural variation in the human genome.
Feuk L, Carson AR, Scherer SW. Nat Rev Genet. 2006 Feb;7(2):85-97.
PMID: 16418744

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.
Zeesman S, Nowaczyk MJ, Teshima I, Roberts W, Cardy JO, Brian J, Senman L, Feuk L, Osborne LR, Scherer SW. Am J Med Genet A. 2006 Mar 1;140(5):509-14.
PMID: 16470794]

Duplication and relocation of the functional DPY19L2 gene within low copy repeats.
Carson AR, Cheung J, Scherer SW. BMC Genomics. 2006 Mar 9;7:45.
PMID: 16526957

An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster.
Vincent JB, Horike SI, Choufani S, Paterson AD, Roberts W, Szatmari P, Weksberg R, Fernandez B, Scherer SW. J Med Genet. 2006 May;43(5):429-34. Epub 2006 Mar 23.
PMID: 16556609

Structural variants: changing the landscape of chromosomes and design of disease studies.
Feuk L, Marshall CR, Wintle RF, Scherer SW. Hum Mol Genet. 2006 Apr 15;15 Spec No 1:R57-66. Review.
PMID: 16651370

Hotspots for copy number variation in chimpanzees and humans.
Perry GH, Tchinda J, McGrath SD, Zhang J, Picker SR, Caceres AM, Iafrate AJ, Tyler-Smith C, Scherer SW, Eichler EE, Stone AC, Lee C. Proc Natl Acad Sci U S A. 2006 May 23;103(21):8006-11. Epub 2006 May 15.
PMID: 16702545

Copy number variation: new insights in genome diversity.
Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, Aburatani H, Jones KW, Tyler-Smith C, Hurles ME, Carter NP, Scherer SW, Lee C. Genome Res. 2006 Aug;16(8):949-61. Epub 2006 Jun 29. Review.
PMID: 16809666

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).
Schwarzbraun T, Windpassinger C, Ofner L, Vincent JB, Cheung J, Scherer SW, Wagner K, Kroisel PM, Petek E. Eur J Med Genet. 2006 Jul-Aug;49(4):338-45. Epub 2005 Nov 28.
PMID: 16829355

Methods for identifying and mapping recent segmental and gene duplications in eukaryotic genomes.
Khaja R, MacDonald JR, Zhang J, Scherer SW. Methods Mol Biol. 2006;338:9-20.
PMID: 16888347

Frequent appearance of novel protein-coding sequences by frameshift translation.
Okamura K, Feuk L, Marques-Bonet T, Navarro A, Scherer SW. Genomics. 2006 Aug 3; [Epub ahead of print] PMID: 16890400 [PubMed - as supplied by publisher

Comparative analysis of the paired immunoglobulin-like receptor (PILR) locus in six mammalian genomes: duplication, conversion, and the birth of new genes.
Wilson MD, Cheung J, Martindale DW, Scherer SW, Koop BF. Physiol Genomics. 2006 Aug 22;
PMID: 16926269

Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.
Osborne LR, Joseph-George AM, Scherer SW. Methods Mol Med. 2006;126:113-28.
PMID: 16930009

Protein therapy for Unverricht-Lundborg disease using cystatin B transduction by TAT-PTD Is it that simple?
Andrade DM, Scherer SW, Minassian BA. Epilepsy Res. 2006 Aug 21;
PMID: 16930946

Characterization of an Autism-Associated Segmental Maternal Heterodisomy of the Chromosome 15q11-13 Region.
Kwasnicka-Crawford DA, Roberts W, Scherer SW. J Autism Dev Disord. 2006 Sep 28;
PMID: 17006779

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Petek E, Schwarzbraun T, Noor A, Patel M, Nakabayashi K, Choufani S, Windpassinger C, Stamenkovic M, Robertson MM, Aschauer HN, Gurling HM, Kroisel PM, Wagner K, Scherer SW, Vincent JB. Mol Genet Genomics. 2006 Oct 17;
PMID: 17043892

IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein.
Kwasnicka-Crawford DA, Carson AR, Scherer SW. Biochem Biophys Res Commun. 2006 Oct 4;
PMID: 17045569