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Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Celestino-Soper PB, Skinner C, Schroer R, Eng P, Shenai J, Nowaczyk MM, Terespolsky D, Cushing D, Patel GS, Immken L, Willis A, Wiszniewska J, Matalon R, Rosenfeld JA, Stevenson RE, Kang SH, Cheung SW, Beaudet AL, Stankiewicz P. Celestino-Soper PB, et al. Among authors: matalon r. Mol Cytogenet. 2012 Apr 5;5:17. doi: 10.1186/1755-8166-5-17. Mol Cytogenet. 2012. PMID: 22480366 Free PMC article.
Identification of novel candidate disease genes from de novo exonic copy number variants.
Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. Gambin T, et al. Among authors: matalon r. Genome Med. 2017 Sep 21;9(1):83. doi: 10.1186/s13073-017-0472-7. Genome Med. 2017. PMID: 28934986 Free PMC article.
When should children be tested for genetic diseases?
Trott AA, Matalon R. Trott AA, et al. Among authors: matalon r. Pediatrics. 2009 Oct;124(4):e807-8. doi: 10.1542/peds.2009-1498. Epub 2009 Sep 21. Pediatrics. 2009. PMID: 19770173 No abstract available.
Fragile X syndrome.
Hayes EW, Matalon R. Hayes EW, et al. Among authors: matalon r. Pediatrics. 2009 Aug;124(2):790-2. doi: 10.1542/peds.2009-0569. Epub 2009 Jul 5. Pediatrics. 2009. PMID: 19581265 No abstract available.
Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs.
Feng L, Chao J, Tian E, Li L, Ye P, Zhang M, Chen X, Cui Q, Sun G, Zhou T, Felix G, Qin Y, Li W, Meza ED, Klein J, Ghoda L, Hu W, Luo Y, Dang W, Hsu D, Gold J, Goldman SA, Matalon R, Shi Y. Feng L, et al. Among authors: matalon r. Adv Sci (Weinh). 2020 Oct 29;7(23):2002155. doi: 10.1002/advs.202002155. eCollection 2020 Dec. Adv Sci (Weinh). 2020. PMID: 33304759 Free PMC article.
251 results