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Publications 2007

Contribution of SHANK3 mutations to autism spectrum disorder.
Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW. Am J Hum Genet. 2007 Dec;81(6):1289-97. Epub 2007 Oct 16.
PMID: 17999366

Copy-number variation in control population cohorts.
Pinto D, Marshall C, Feuk L, Scherer SW. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R168-73.
PMID: 17911159

The diploid genome sequence of an individual human.
Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC. PLoS Biol. 2007 Sep 4;5(10):e254.
PMID: 17803354

Challenges and standards in integrating surveys of structural variation.
Scherer SW, Lee C, Birney E, Altshuler DM, Eichler EE, Carter NP, Hurles ME, Feuk L. Nat Genet. 2007 Jul;39(7 Suppl):S7-15.
PMID: 17597783

Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong.
Mensah AK, De Luca V, Stachowiak B, Noor A, Windpassinger C, Lam ST, Kennedy JL, Scherer SW, Lo IF, Vincent JB. Schizophr Res. 2007 Sep;95(1-3):228-35. Epub 2007 Jul 17.
PMID: 17644315

Germ-line DNA copy number variation frequencies in a large North American population.
Zogopoulos G, Ha KC, Naqib F, Moore S, Kim H, Montpetit A, Robidoux F, Laflamme P, Cotterchio M, Greenwood C, Scherer SW, Zanke B, Hudson TJ, Bader GD, Gallinger S. Hum Genet. 2007 Nov;122(3-4):345-53. Epub 2007 Jul 19.
PMID: 17638019

Evolutionary implications of inversions that have caused intra-strand parity in DNA.
Okamura K, Wei J, Scherer SW. BMC Genomics. 2007 Jun 11;8:160.
PMID: 17562011

Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution.
Parker-Katiraee L, Carson AR, Yamada T, Arnaud P, Feil R, Abu-Amero SN, Moore GE, Kaneda M, Perry GH, Stone AC, Lee C, Meguro-Horike M, Sasaki H, Kobayashi K, Nakabayashi K, Scherer SW. PLoS Genet. 2007 May 4;3(5):e65. Epub 2007 Mar 12.
PMID: 17480121

Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse.
Li CF, MacDonald JR, Wei RY, Ray J, Lau K, Kandel C, Koffman R, Bell S,Scherer SW, Alman BA. BMC Genomics. 2007 Apr 3;8:92.
PMID: 17407603

Expression and mutation status of candidate kinases in multiple myeloma.
Claudio JO, Zhan F, Zhuang L, Khaja R, Zhu YX, Sivananthan K, Trudel S, Masih-Khan E, Fonseca R, Bergsagel PL, Scherer SW, Shaughnessy J, Stewart AK. Leukemia. 2007 May;21(5):1124-7. Epub 2007 Mar 8.
PMID: 17344920

Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
Nakamine A, Ouchanov L, Jiménez P, Manghi ER, Esquivel M, Monge S, Fallas M, Burton BK, Szomju B, Elsea SH, Marshall CR, Scherer SW, McInnes LA. Am J Med Genet A. 2007 Mar 2; [Epub ahead of print]
PMID: 17334992

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Autism Genome Project Consortium, Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Langemeijer M, Hijmans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A, Meyer KJ. Nat Genet. 2007 Mar;39(3):319-28. Epub 2007 Feb 18.
PMID: 17322880

Relative impact of nucleotide and copy number variation on gene expression phenotypes.
Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, Redon R, Bird CP, de Grassi A, Lee C, Tyler-Smith C, Carter N, Scherer SW, Tavaré S, Deloukas P, Hurles ME, Dermitzakis ET. Science. 2007 Feb 9;315(5813):848-53.
PMID: 17289997

Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis.
Abecasis G, Tam PK, Bustamante CD, Ostrander EA, Scherer SW, Chanock SJ, Kwok PY, Brookes AJ. Nat Genet. 2007 Feb;39(2):153-5.
PMID: 17262030

Sequence variants within exon 1 of MECP2 occur in females with mental retardation.
Harvey CG, Menon SD, Stachowiak B, Noor A, Proctor A, Mensah AK, Mnatzakanian GN, Alfred SE, Guo R, Scherer SW, Kennedy JL, Roberts W, Srivistava AK, Minassian BA, Vincent JB. Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144(3):355-60.
PMID: 17171659

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. 2007 Jan;277(1):71-81. Epub 2006 Oct 17.
PMID: 17043892

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. 2007 Apr;37(4):694-702.
PMID: 17006779