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Page 1
Concurrent ependymal and ganglionic differentiation in a subset of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement.
Lee JC, Koo SC, Furtado LV, Breuer A, Eldomery MK, Bag AK, Stow P, Rose G, Larkin T, Sances R, Kleinschmidt-DeMasters BK, Bodmer JL, Willard N, Gokden M, Dahiya S, Roberts K, Bertrand KC, Moreira DC, Robinson GW, Mo JQ, Ellison DW, Orr BA. Lee JC, et al. Among authors: eldomery mk. Acta Neuropathol Commun. 2024 Sep 3;12(1):143. doi: 10.1186/s40478-024-01809-9. Acta Neuropathol Commun. 2024. PMID: 39228008 Free PMC article.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Penon-Portmann M, Eldomery MK, Potocki L, Marafi D, Posey JE, Coban-Akdemir Z, Harel T, Grochowski CM, Loucks H, Devine WP, Van Ziffle J, Doherty D, Lupski JR, Shieh JT. Penon-Portmann M, et al. Among authors: eldomery mk. Am J Med Genet A. 2022 Aug;188(8):2360-2366. doi: 10.1002/ajmg.a.62872. Epub 2022 Jun 25. Am J Med Genet A. 2022. PMID: 35751429 Free PMC article.
Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
Scollon S, Eldomery MK, Reuther J, Lin FY, Potter SL, Desrosiers L, McClain KL, Smith V, Su JM, Venkatramani R, Hu J, Korchina V, Zarrin-Khameh N, Gibbs RA, Muzny DM, Eng C, Roy A, Parsons DW, Plon SE. Scollon S, et al. Among authors: eldomery mk. Pediatr Blood Cancer. 2022 Nov;69(11):e29859. doi: 10.1002/pbc.29859. Epub 2022 Jun 30. Pediatr Blood Cancer. 2022. PMID: 35713195 Free PMC article.
Recurrent KRAS mutations in papillary renal neoplasm with reverse polarity.
Al-Obaidy KI, Eble JN, Nassiri M, Cheng L, Eldomery MK, Williamson SR, Sakr WA, Gupta N, Hassan O, Idrees MT, Grignon DJ. Al-Obaidy KI, et al. Among authors: eldomery mk. Mod Pathol. 2020 Jun;33(6):1157-1164. doi: 10.1038/s41379-019-0362-1. Epub 2019 Sep 18. Mod Pathol. 2020. PMID: 31534204 Free article.
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC; Undiagnosed Diseases Network; Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P. Wang X, et al. Among authors: eldomery mk. Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. eCollection 2018 Oct. Ann Clin Transl Neurol. 2018. PMID: 30349862 Free PMC article.
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