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Publications 2002

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

Hereditary chin trembling: a new family with exclusion of the chromosome 9q13-q21 Locus.
Grimes DA, Han F, Bulman D, Nicolson ML, Suchowersky O. Mov Disord. 2002 Nov;17(6):1390-2. PMID: 12465093 PubMed

Large French-Canadian family with Lewy body parkinsonism: exclusion of known loci.
Grimes DA, Grimes JD, Racacho L, Scoggan KA, Han F, Schwarz BA, Woulfe J, Bulman D. Mov Disord. 2002 Nov;17(6):1205-12. PMID: 12465058 PubMed

Clinical and genetic study of a large Italian family linked to SPG12 locus.
Orlacchio A, Kawarai T, Rogaeva E, Song YQ, Paterson AD, Bernardi G, St George-Hyslop PH. Neurology. 2002 Nov 12;59(9):1395-401. PMID: 12427890 PubMed

A novel locus for inherited myoclonus-dystonia on 18p11.
Grimes DA, Han F, Lang AE, St George-Hyssop P, Racacho L, Bulman DE. Neurology. 2002 Oct 22;59(8):1183-6. PMID: 12391345 PubMed

Thymectomy and radiation-induced type 1 diabetes in nonlymphopenic BB rats.
Ramanathan S, Bihoreau MT, Paterson AD, Marandi L, Gauguier D, Poussier P. Diabetes. 2002 Oct;51(10):2975-81. PMID: 12351436 PubMed

The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system.
Vincent JB, Petek E, Thevarkunnel S, Kolozsvari D, Cheung J, Patel M, Scherer SW. Genomics. 2002 Sep;80(3):283-94. PMID: 12213198 PubMed

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.
Estivill X, Cheung J, Pujana MA, Nakabayashi K, Scherer SW, Tsui LC. Hum Mol Genet. 2002 Aug 15;11(17):1987-95. PMID: 12165560 PubMed

A large Calabrian kindred segregating frontotemporal dementia.
Curcio SA, Kawarai T, Paterson AD, Maletta RG, Puccio G, Perri M, Di Natale M, Palermo S, Foncin JF, Hyslop PH, Bruni AC. J Neurol. 2002 Jul;249(7):911-22. PMID: 12140677 PubMed

Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.
Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND. J Am Soc Nephrol. 2002 Aug;13(8):2077-84. PMID: 12138139 PubMed

Genetic analysis of patients with the Saethre-Chotzen phenotype.
Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I. Am J Med Genet. 2002 Jun 15;110(2):136-43. PMID: 12116251 PubMed

Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.
Nakabayashi K, Bentley L, Hitchins MP, Mitsuya K, Meguro M, Minagawa S, Bamforth JS, Stanier P, Preece M, Weksberg R, Oshimura M, Moore GE, Scherer SW. Hum Mol Genet. 2002 Jul 15;11(15):1743-56. PMID: 12095916 PubMed

Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease.
Paterson AD, Wang KR, Lupea D, St George-Hyslop P, Pei Y. Am J Kidney Dis. 2002 Jul;40(1):16-20. PMID: 12087556 PubMed

A role for common fragile site induction in amplification of human oncogenes.
Hellman A, Zlotorynski E, Scherer SW, Cheung J, Vincent JB, Smith DI, Trakhtenbrot L, Kerem B. Cancer Cell. 2002 Feb;1(1):89-97. PMID: 12086891 PubMed

A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease.
Xiong H, Chen Y, Yi Y, Tsuchiya K, Moeckel G, Cheung J, Liang D, Tham K, Xu X, Chen XZ, Pei Y, Zhao ZJ, Wu G. Genomics. 2002 Jul;80(1):96-104. PMID: 12079288 PubMed

Mutations in SUFU predispose to medulloblastoma.
Taylor MD, Liu L, Raffel C, Hui CC, Mainprize TG, Zhang X, Agatep R, Chiappa S, Gao L, Lowrance A, Hao A, Goldstein AM, Stavrou T, Scherer SW, Dura WT, Wainwright B, Squire JA, Rutka JT, Hogg D. Nat Genet. 2002 Jul;31(3):306-10. Epub 2002 Jun 17. PMID: 12068298 PubMed

Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.
Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM. Eur J Hum Genet. 2002 Apr;10(4):250-8. PMID: 12032733 PubMed

A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
Armour CM, McCready ME, Baig A, Hunter AG, Bulman DE. J Med Genet. 2002 Mar;39(3):186-8. No abstract available. PMID: 11897820 PubMed

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW. Genomics. 2002 Feb;79(2):186-96. PMID: 11829489 PubMed