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Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I. Xian J, et al. Among authors: pierce sr. medRxiv [Preprint]. 2023 May 11:2023.05.10.23289776. doi: 10.1101/2023.05.10.23289776. medRxiv. 2023. PMID: 37215006 Free PMC article. Updated. Preprint.
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I. Xian J, et al. Among authors: pierce sr. Brain. 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. Brain. 2023. PMID: 38015929 Free PMC article.
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Parthasarathy S, Ruggiero SM, Gelot A, Soardi FC, Ribeiro BFR, Pires DEV, Ascher DB, Schmitt A, Rambaud C, Represa A, Xie HM, Lusk L, Wilmarth O, McDonnell PP, Juarez OA, Grace AN, Buratti J, Mignot C, Gras D, Nava C, Pierce SR, Keren B, Kennedy BC, Pena SDJ, Helbig I, Cuddapah VA. Parthasarathy S, et al. Among authors: pierce sr. Am J Hum Genet. 2022 Dec 1;109(12):2253-2269. doi: 10.1016/j.ajhg.2022.11.002. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413998 Free PMC article.
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.
Gavazzi F, Patel V, Charsar B, Glanzman A, Erler J, Sevagamoorthy A, McKenzie E, Kornafel T, Ballance E, Pierce SR, Teng M, Formanowski B, Woidill S, Shults J, Wassmer E, Tonduti D, Magrinelli F, Bernard G, Van Der Knaap M, Wolf N, Adang L, Vanderver A. Gavazzi F, et al. Among authors: pierce sr. J Child Neurol. 2023 Aug;38(8-9):498-504. doi: 10.1177/08830738231188159. Epub 2023 Jul 17. J Child Neurol. 2023. PMID: 37461315 Free PMC article.
Quantifying interaction with robotic toys in pre-term and full-term infants.
Kather C, Shofer FS, Park JI, Bogen D, Pierce SR, Kording K, Nilan KA, Zhang H, Prosser LA, Johnson MJ. Kather C, et al. Among authors: pierce sr. Front Pediatr. 2023 Oct 19;11:1153841. doi: 10.3389/fped.2023.1153841. eCollection 2023. Front Pediatr. 2023. PMID: 37928351 Free PMC article.
Response patterns and impact of MRD in patients with IDH1/2-mutated AML treated with venetoclax and hypomethylating agents.
Hammond D, Loghavi S, Wang SA, Konopleva MY, Kadia TM, Daver NG, Ohanian M, Issa GC, Alvarado Y, Short NJ, Sasaki K, Pemmaraju N, Montalban-Bravo G, Lachowiez CA, Maiti A, Garcia-Manero G, Jabbour EJ, Borthakur G, Ravandi F, Takahashi K, Pierce SR, Kantarjian HM, DiNardo CD. Hammond D, et al. Among authors: pierce sr. Blood Cancer J. 2023 Sep 21;13(1):148. doi: 10.1038/s41408-023-00915-6. Blood Cancer J. 2023. PMID: 37735426 Free PMC article. No abstract available.
102 results