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Publications 2005

Expanded repeat in canine epilepsy.
Lohi H, Young EJ, Fitzmauric SN, Rusbridge C, Chan EM, Vervoort M, Turnbull J, Zhao X-C, Ianzano L, Paterson AD, Sutter NB, Ostrander EA, André C, Shelton GD, Ackerley CA, Scherer SW, Minassian BA. 2005. Science 307, 81.
PMID: 15637270

Identification of C7orf11 (TTDN1) Gene Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy.
Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, Macdonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW. 2005. American Journal of Human Genetics 76, 510-516.
PMID: 15645389

Endothelial nitric oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast.
Yamada T, Carson AR, Caniggia I, Umebayashi K, Yoshimori T, Nakabayashi K, Scherer SW. 2005. Journal of Biological Chemistry 280, 18283-18290.
PMID: 15755735

Early BrdU-responsive genes constitute a novel class of senescence-associated genes in human cells.
Minagawa S, Nakabayashi K, Fujii M, Scherer SW, Ayusawa D. 2005. Experimental Cell Research, 304, 552-558.
PMID: 15748899

Genetic Variation at the ACE Gene Is Associated With Persistent Microalbuminuria and Severe Nephropathy in Type 1 Diabetes: The DCCT/EDIC Genetics Study.
Boright AP, Paterson AD, Mirea L, Bull SB, Mowjoodi A, Scherer SW, Zinman B. 2005. Diabetes, 54, 1238-1244.
PMID: 15793268

Altered expression and deletion of RMO1 in osteosarcoma.
Eppert K, Wunder JS, Aneliunas V, Tsui LC, Scherer SW, Andrulis IL. 2005. International Journal of Cancer 114, 738-746.
PMID: 15609301

Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.
Kwasnicka-Crawford DA, Carson AR, Roberts W, Summers AM, Rehnstrom K, Jarvela I, Scherer SW. 2005. Genomics, 86, 182-194.
PMID: 15925480

Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
Scherer SW, Gripp KW, Lucena J, Nicholson L, Bonnefont JP, Perez-Jurado LA, Osborne LR. 2005. Human Genetics, 117, 383-388.
PMID: 15933846

Novel glycogen synthase kinase 3 (GSK3) and ubiquitination pathways in progressive myoclonus epilepsy.
Lohi H, Ianzano L, Zhao X.-C, Chan EM, Scherer SW, Ackerley CA, Minassian BA. 2005. Human Molecular Genetics, 14, 2727-2736.
PMID: 16115820

Lafora progressive myoclonus epilepsy mutation database-EPM2A and NHLRC1 (EMP2B) genes.
Ianzano L, Zhang J, Chan EM, Zhao X-C, Lohi H, Scherer SW, Minassian BA. 2005. Human Mutation, 26, 397.
PMID: 16134145]

Holoprosencephaly and Cleidocranial Dysplasia in a patient due to two position effect mutations: Case report and review of the literature.
Fernandez BA, Siegel-Bartelt J, Herbrick JA, Teshima I, Scherer SW. 2005. Clinical Genetics, 68, 349-359.
PMID: 16143022

Severe expressive-language delay related to duplication of the Williams-Beuren locus.
Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Perez-Jurado LA, Morris CA, Scherer SW, Osborne LR. N Engl J Med. 2005 Oct 20;353(16):1694-701.
PMID: 16236740

Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.
Garcia-Barcelo M, So MT, Lau DK, Leon TY, Yuan ZW, Cai WS, Lui VC, Fu M, Herbrick JA, Gutter E, Proud V, Li L, Pierre-Louis J, Aleck K, van Heurn E, Belloni E, Scherer SW, Tam PK. Clin Chem. 2006 Jan;52(1):46-52. Epub 2005 Oct 27.
PMID: 16254195]

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.
Feuk L, MacDonald JR, Tang T, Carson AR, Li M, Rao G, Khaja R, Scherer SW. PLoS Genet. 2005 Oct;1(4):e56. Epub 2005 Oct 28.
PMID: 16254605]

Murine segmental duplications are hot spots for chromosome and gene evolution.
Armengol L, Marques-Bonet T, Cheung J, Khaja R, Gonzalez JR, Scherer SW, Navarro A, Estivill X. Genomics. 2005 Dec;86(6):692-700. Epub 2005 Oct 26.
PMID: 16256303