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Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE. Scott HS, et al. Among authors: papasavvas mp. Nat Genet. 2001 Jan;27(1):59-63. doi: 10.1038/83768. Nat Genet. 2001. PMID: 11137999
Mutation analyses of North American APS-1 patients.
Heino M, Scott HS, Chen Q, Peterson P, Mäebpää U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, Maclaren N, Antonarakis SE, Krohn K. Heino M, et al. Among authors: papasavvas mp. Hum Mutat. 1999;13(1):69-74. doi: 10.1002/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6. Hum Mutat. 1999. PMID: 9888391
The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals.
Chrast R, Scott HS, Papasavvas MP, Rossier C, Antonarakis ES, Barras C, Davisson MT, Schmidt C, Estivill X, Dierssen M, Pritchard M, Antonarakis SE. Chrast R, et al. Among authors: papasavvas mp. Genome Res. 2000 Dec;10(12):2006-21. doi: 10.1101/gr.10.12.2006. Genome Res. 2000. PMID: 11116095 Free PMC article.
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C, Cohen A, Seri M, Lerone M, Romeo G, Collin P, Salo M, Metcalfe R, Weetman A, Papasavvas MP, Rossier C, Nagamine K, Kudoh J, Shimizu N, Krohn KJ, Antonarakis SE. Scott HS, et al. Among authors: papasavvas mp. Mol Endocrinol. 1998 Aug;12(8):1112-9. doi: 10.1210/mend.12.8.0143. Mol Endocrinol. 1998. PMID: 9717837