Weksberg R - Search Results

1

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.

Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, Caluseriu O, Carter M, Lou Y, Nicolson R, Georgiades S, Szatmari P, Anagnostou E, Scherer SW, Choufani S, Brudno M, Weksberg R. Siu MT, et al. Among authors: weksberg r. Clin Epigenetics. 2019 Jul 16;11(1):103. doi: 10.1186/s13148-019-0684-3. Clin Epigenetics. 2019. PMID: 31311581 Free PMC article.

2

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J. Weksberg R, et al. Hum Mol Genet. 2001 Dec 15;10(26):2989-3000. doi: 10.1093/hmg/10.26.2989. Hum Mol Genet. 2001. PMID: 11751681

3

Music skills and the expressive interpretation of music in children with Williams-Beuren syndrome: pitch, rhythm, melodic imagery, phrasing, and musical affect.

Hopyan T, Dennis M, Weksberg R, Cytrynbaum C. Hopyan T, et al. Among authors: weksberg r. Child Neuropsychol. 2001 Mar;7(1):42-53. doi: 10.1076/chin.7.1.42.3147. Child Neuropsychol. 2001. PMID: 11815880

4

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. Nakabayashi K, et al. Among authors: weksberg r. Genomics. 2002 Feb;79(2):186-96. doi: 10.1006/geno.2002.6695. Genomics. 2002. PMID: 11829489

5

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J. Weksberg R, et al. Hum Mol Genet. 2002 May 15;11(11):1317-25. doi: 10.1093/hmg/11.11.1317. Hum Mol Genet. 2002. PMID: 12019213

6

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. Nakabayashi K, et al. Among authors: weksberg r. Hum Mol Genet. 2002 Jul 15;11(15):1743-56. doi: 10.1093/hmg/11.15.1743. Hum Mol Genet. 2002. PMID: 12095916

7

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. Goldman M, et al. Among authors: weksberg r. J Am Soc Nephrol. 2002 Aug;13(8):2077-84. doi: 10.1097/01.asn.0000023431.16173.55. J Am Soc Nephrol. 2002. PMID: 12138139

8

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, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC. Scherer SW, et al. Among authors: weksberg r. Science. 2003 May 2;300(5620):767-72. doi: 10.1126/science.1083423. Epub 2003 Apr 10. Science. 2003. PMID: 12690205 Free PMC article.

9

Clinical features of 78 adults with 22q11 Deletion Syndrome.

Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. Bassett AS, et al. Among authors: weksberg r. Am J Med Genet A. 2005 Nov 1;138(4):307-13. doi: 10.1002/ajmg.a.30984. Am J Med Genet A. 2005. PMID: 16208694 Free PMC article.

10

Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome.

Cytrynbaum CS, Smith AC, Rubin T, Weksberg R. Cytrynbaum CS, et al. Among authors: weksberg r. Curr Opin Pediatr. 2005 Dec;17(6):740-6. doi: 10.1097/01.mop.0000187191.74295.97. Curr Opin Pediatr. 2005. PMID: 16282780 Review.

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