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Publications 2003

Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW. Nat Genet. 2003 Oct;35(2):125-7. Epub 2003 Sep 07. PMID: 12958597 PubMed

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.
Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X. Hum Mol Genet. 2003 Sep 1;12(17):2201-8. Epub 2003 Jul 08. PMID: 12915466 PubMed

Recent segmental and gene duplications in the mouse genome.
Cheung J, Wilson MD, Zhang J, Khaja R, MacDonald JR, Heng HH, Koop BF, Scherer SW. Genome Biol. 2003;4(8):R47. Epub 2003 Jul 09. PMID: 12914656 PubMed

Monozygotic twins exhibit numerous epigenetic differences: clues to twin discordance?
Petronis A, Gottesman II, Kan P, Kennedy JL, Basile VS, Paterson AD, Popendikyte V. Schizophr Bull. 2003;29(1):169-78. Bioinformatics. 2003 Jun 12;19(9):1177-8. PMID: 12908672 PubMed

Genescript: DNA sequence annotation pipeline.
Hudek AK, Cheung J, Boright AP, Scherer SW. Bioinformatics. 2003 Jun 12;19(9):1177-8. PMID: 12801881 PubMed

Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans.
Wen XY, Hegele RA, Wang J, Wang DY, Cheung J, Wilson M, Yahyapour M, Bai Y, Zhuang L, Skaug J, Young TK, Connelly PW, Koop BF, Tsui LC, Stewart AK. Hum Mol Genet. 2003 May 15;12(10):1131-43. PMID: 12719377 PubMed

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
Cheung J, Estivill X, Khaja R, MacDonald JR, Lau K, Tsui LC, Scherer SW. Genome Biol. 2003;4(4):R25. Epub 2003 Mar 17. PMID: 12702206 PubMed

Human chromosome 7: DNA sequence and biology.
Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC. Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10. PMID: 12690205 PubMed

Identification of severe acute respiratory syndrome in Canada.
Poutanen SM, Low DE, Henry B, Finkelstein S, Rose D, Green K, Tellier R, Draker R, Adachi D, Ayers M, Chan AK, Skowronski DM, Salit I, Simor AE, Slutsky AS, Doyle PW, Krajden M, Petric M, Brunham RC, McGeer AJ; National Microbiology Laboratory, Canada; Canadian Severe Acute Respiratory Syndrome Study Team. N Engl J Med. 2003 May 15;348(20):1995-2005. Epub 2003 Mar 31. PMID: 12671061 PubMed

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X, Zuffardi O. Hum Mol Genet. 2003 Apr 15;12(8):849-58. PMID: 12668608 PubMed

Novel genetic markers in the 5'-flanking region of ANKH are associated with ankylosing spondylitis.
Tsui FW, Tsui HW, Cheng EY, Stone M, Payne U, Reveille JD, Shulman MJ, Paterson AD, Inman RD. Arthritis Rheum. 2003 Mar;48(3):791-7. PMID: 12632434 PubMed

Cerebral vascular abnormalities in a murine model of hereditary hemorrhagic telangiectasia.
Satomi J, Mount RJ, Toporsian M, Paterson AD, Wallace MC, Harrison RV, Letarte M. Stroke. 2003 Mar;34(3):783-9. Epub 2003 Jan 30. PMID: 12624308 PubMed

GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome.
Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A. Blood. 2003 Jun 1;101(11):4301-4. Epub 2003 Feb 13. PMID: 12586620 PubMed

A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5).
Lamhonwah AM, Skaug J, Scherer SW, Tein I. Biochem Biophys Res Commun. 2003 Jan 31;301(1):98-101. PMID: 12535646 PubMed

Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.
Kirkpatrick TJ, Au KS, Mastrobattista JM, McCready ME, Bulman DE, Northrup H. J Med Genet. 2003 Jan;40(1):42-4. No abstract available. PMID: 12525541 PubMed

Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM. Nat Genet. 2003 Jan;33(1):97-101. Epub 2002 Dec 23. PMID: 12496757 PubMed

Multiplexed fluorescence analysis for mutations causing Tay-Sachs disease.
Stockley TL, Ray PN. Methods Mol Biol. 2003;217:131-41. PMID: 12491928 PubMed

Deletion mapping on the long arm of chromosome 7 in splenic lymphoma with villous lymphocytes.
Gruszka-Westwood AM, Hamoudi R, Osborne L, Matutes E, Catovsky D. Genes Chromosomes Cancer. 2003 Jan;36(1):57-69. Erratum in: Genes Chromosomes Cancer. 2004 Feb;39(2):170. PMID: 12461750 PubMed

Multiplexed fluorescence analysis for mutations causing Tay-Sachs disease.
Stockley TL, Ray PN. Methods Mol Biol. 2003;217:131-41. No abstract available. PMID: 12491928