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.
Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Nat Genet. 2003 Oct;35(2):125-7. Epub 2003 Sep 07.
PMID: 12958597
Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X.
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.
Hum Mol Genet. 2003 Sep 1;12(17):2201-8. Epub 2003 Jul 08.
PMID: 12915466
Cheung J, Wilson MD, Zhang J, Khaja R, MacDonald JR, Heng HH, Koop BF, Scherer SW.
Recent segmental and gene duplications in the mouse genome.
Genome Biol. 2003;4(8):R47. Epub 2003 Jul 09.
PMID: 12914656
Petronis A, Gottesman II, Kan P, Kennedy JL, Basile VS, Paterson AD, Popendikyte V.
Monozygotic twins exhibit numerous epigenetic differences: clues to twin discordance?
Schizophr Bull. 2003;29(1):169-78.
PMID: 12908672
Hudek AK, Cheung J, Boright AP, Scherer SW.
Genescript: DNA sequence annotation pipeline.
Bioinformatics. 2003 Jun 12;19(9):1177-8.
PMID: 12801881
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.
Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans.
Hum Mol Genet. 2003 May 15;12(10):1131-43.
PMID: 12719377
Cheung J, Estivill X, Khaja R, MacDonald JR, Lau K, Tsui LC, Scherer SW.
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
Genome Biol. 2003;4(4):R25. Epub 2003 Mar 17.
PMID: 12702206
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.
Human chromosome 7: DNA sequence and biology.
Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10.
PMID: 12690205
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.
Identification of severe acute respiratory syndrome in Canada.
N Engl J Med. 2003 May 15;348(20):1995-2005. Epub 2003 Mar 31.
PMID: 12671061
Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X, Zuffardi O.
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
Hum Mol Genet. 2003 Apr 15;12(8):849-58.
PMID: 12668608
Tsui FW, Tsui HW, Cheng EY, Stone M, Payne U, Reveille JD, Shulman MJ, Paterson AD, Inman RD.
Novel genetic markers in the 5'-flanking region of ANKH are associated with ankylosing spondylitis.
Arthritis Rheum. 2003 Mar;48(3):791-7.
PMID: 12632434
Satomi J, Mount RJ, Toporsian M, Paterson AD, Wallace MC, Harrison RV, Letarte M.
Cerebral vascular abnormalities in a murine model of hereditary hemorrhagic telangiectasia.
Stroke. 2003 Mar;34(3):783-9. Epub 2003 Jan 30.
PMID: 12624308
Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A.
GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome.
Blood. 2003 Jun 1;101(11):4301-4. Epub 2003 Feb 13.
PMID: 12586620
Lamhonwah AM, Skaug J, Scherer SW, Tein I.
A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5).
Biochem Biophys Res Commun. 2003 Jan 31;301(1):98-101.
PMID: 12535646
Kirkpatrick TJ, Au KS, Mastrobattista JM, McCready ME, Bulman DE, Northrup H.
Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.
J Med Genet. 2003 Jan;40(1):42-4. No abstract available.
PMID: 12525541
Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM.
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Nat Genet. 2003 Jan;33(1):97-101. Epub 2002 Dec 23.
PMID: 12496757
Stockley TL, Ray PN.
Multiplexed fluorescence analysis for mutations causing Tay-Sachs disease.
Methods Mol Biol. 2003;217:131-41. No abstract available.
PMID: 12491928
Gruszka-Westwood AM, Hamoudi R, Osborne L, Matutes E, Catovsky D.
Deletion mapping on the long arm of chromosome 7 in splenic lymphoma with villous lymphocytes. Genes Chromosomes Cancer. 2003 Jan;36(1):57-69. Erratum in: Genes Chromosomes
Cancer. 2004 Feb;39(2):170.
PMID: 12461750
Stockley TL, Ray PN.
Multiplexed fluorescence analysis for mutations causing Tay-Sachs disease.
Methods Mol Biol. 2003;217:131-41. No abstract available.
PMID: 12491928