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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, Perrin L, Safina N, Townshend S, Scherer SW, Anagnostou E, Piton A, Deardorff M, Brudno M, Chitayat D, Weksberg R. Chater-Diehl E, et al. Among authors: weksberg r. BMC Med Genomics. 2019 Jul 9;12(1):105. doi: 10.1186/s12920-019-0555-y. BMC Med Genomics. 2019. PMID: 31288860 Free PMC article.
FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.
Teshima I, Chadwick D, Chitayat D, Kobayashi J, Ray P, Shuman C, Siegel-Bartelt J, Strasberg P, Weksberg R. Teshima I, et al. Among authors: weksberg r. Am J Med Genet. 1996 Mar 29;62(3):217-23. doi: 10.1002/(sici)1096-8628(19960329)62:3<216::aid-ajmg3>3.3.co;2-0. Am J Med Genet. 1996. PMID: 8882776
Schimke immunoosseous dysplasia complicated by moyamoya phenomenon.
Boerkoel CF, Nowaczyk MJ, Blaser SI, Meschino WS, Weksberg R. Boerkoel CF, et al. Among authors: weksberg r. Am J Med Genet. 1998 Jun 30;78(2):118-22. doi: 10.1002/(sici)1096-8628(19980630)78:2<118::aid-ajmg4>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9674900
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
285 results