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DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.
Schenkel LC, Aref-Eshghi E, Rooney K, Kerkhof J, Levy MA, McConkey H, Rogers RC, Phelan K, Sarasua SM, Jain L, Pauly R, Boccuto L, DuPont B, Cappuccio G, Brunetti-Pierri N, Schwartz CE, Sadikovic B. Schenkel LC, et al. Among authors: schwartz ce. Clin Epigenetics. 2021 Jan 6;13(1):2. doi: 10.1186/s13148-020-00990-7. Clin Epigenetics. 2021. PMID: 33407854 Free PMC article.
Fragile X syndrome: growth, development, and intellectual function.
Prouty LA, Rogers RC, Stevenson RE, Dean JH, Palmer KK, Simensen RJ, Coston GN, Schwartz CE. Prouty LA, et al. Among authors: schwartz ce. Am J Med Genet. 1988 May-Jun;30(1-2):123-42. doi: 10.1002/ajmg.1320300111. Am J Med Genet. 1988. PMID: 3177438
Germline mosaicism in X-linked myotubular myopathy.
Häne BG, Rogers RC, Schwartz CE. Häne BG, et al. Among authors: schwartz ce. Clin Genet. 1999 Jul;56(1):77-81. doi: 10.1034/j.1399-0004.1999.560111.x. Clin Genet. 1999. PMID: 10466421
The Hunter-McAlpine syndrome results from duplication 5q35-qter.
Hunter AG, Dupont B, McLaughlin M, Hinton L, Baker E, Adès L, Haan E, Schwartz CE. Hunter AG, et al. Among authors: schwartz ce. Clin Genet. 2005 Jan;67(1):53-60. doi: 10.1111/j.1399-0004.2005.00378.x. Clin Genet. 2005. PMID: 15617549
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE. Schwartz CE, et al. Am J Hum Genet. 2005 Jul;77(1):41-53. doi: 10.1086/431313. Epub 2005 May 11. Am J Hum Genet. 2005. PMID: 15889350 Free PMC article.
582 results