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1,198 results

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Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M, Gable DL, Love-Nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, DeGusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi-Fakhari D, Lai A, O'Donnell-Luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S. Chopra M, et al. Among authors: bolton j. Ann Clin Transl Neurol. 2022 Feb;9(2):193-205. doi: 10.1002/acn3.51506. Epub 2022 Jan 24. Ann Clin Transl Neurol. 2022. PMID: 35076175 Free PMC article.
Discrepant expressive language lateralization in children and adolescents with epilepsy.
Pasichnik A, Tsuboyama M, Jannati A, Vega C, Kaye HL, Damar U, Bolton J, Stone SSD, Madsen JR, Suarez RO, Rotenberg A. Pasichnik A, et al. Among authors: bolton j. Ann Clin Transl Neurol. 2022 Sep;9(9):1459-1464. doi: 10.1002/acn3.51594. Epub 2022 Aug 24. Ann Clin Transl Neurol. 2022. PMID: 36000540 Free PMC article.
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY, Smith L, Wiltrout KN, Podury A, Chourasia N, D'Gama AM, Park M, Knight D, Sexton EL, Koh JJ, Oby B, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH; BCH Neurology Referral and Phenotyping Group. Koh HY, et al. JAMA Netw Open. 2023 Jul 3;6(7):e2324380. doi: 10.1001/jamanetworkopen.2023.24380. JAMA Netw Open. 2023. PMID: 37471090 Free PMC article.
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology.
Phillips HW, D'Gama AM, Wang Y, Chahine Y, Chiu M, Swanson AC, Ahtam B, Bolton JB, Madsen JR, Lee EA, Prabhu SP, Lidov HG, Papadakis J, Huang AY, Poduri A, Stone SS, Walsh CA. Phillips HW, et al. Among authors: bolton jb. Neurol Genet. 2023 Dec 22;10(1):e200117. doi: 10.1212/NXG.0000000000200117. eCollection 2024 Feb. Neurol Genet. 2023. PMID: 38149038 Free PMC article.
1,198 results