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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: pinto a. 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.
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.
Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.
Huang L, Bichsel C, Norris AL, Thorpe J, Pevsner J, Alexandrescu S, Pinto A, Zurakowski D, Kleiman RJ, Sahin M, Greene AK, Bischoff J. Huang L, et al. Among authors: pinto a. Arterioscler Thromb Vasc Biol. 2022 Jan;42(1):e27-e43. doi: 10.1161/ATVBAHA.121.316651. Epub 2021 Oct 21. Arterioscler Thromb Vasc Biol. 2022. PMID: 34670408 Free PMC article.
4,485 results