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Page 1
Defining the phenotype to discover the genotype.
Gurnett CA, Trevathan E. Gurnett CA, et al. Neurology. 2006 Jun 13;66(11):1622-3. doi: 10.1212/01.wnl.0000224695.39903.b9. Neurology. 2006. PMID: 16769931 No abstract available.
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson JG. Chung C, et al. Among authors: gurnett ca. Nat Genet. 2023 Feb;55(2):209-220. doi: 10.1038/s41588-022-01276-9. Epub 2023 Jan 12. Nat Genet. 2023. PMID: 36635388 Free PMC article.
SARS-CoV-2 Screening Testing in Schools for Children with Intellectual and Developmental Disabilities.
Sherby MR, Walsh T, Lai AM, Neidich JA, Balls-Berry JE, Morris SM, Head R, Prener C, Newland JG, Gurnett CA; COMPASS-T Study Group. Sherby MR, et al. Among authors: gurnett ca. Res Sq [Preprint]. 2021 Jul 20:rs.3.rs-700296. doi: 10.21203/rs.3.rs-700296/v1. Res Sq. 2021. Update in: J Neurodev Disord. 2021 Sep 1;13(1):31. doi: 10.1186/s11689-021-09376-z PMID: 34312616 Free PMC article. Updated. Preprint.
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
Tayebi N, Leon-Ricardo B, McCall K, Mehinovic E, Engelstad K, Huynh V, Turner TN, Weisenberg J, Thio LL, Hruz P, Williams RSB, De Vivo DC, Petit V, Haller G, Gurnett CA. Tayebi N, et al. Among authors: gurnett ca. Ann Clin Transl Neurol. 2023 May;10(5):787-801. doi: 10.1002/acn3.51767. Epub 2023 Mar 31. Ann Clin Transl Neurol. 2023. PMID: 37000947 Free PMC article.
Functional role of myosin-binding protein H in thick filaments of developing vertebrate fast-twitch skeletal muscle.
Mead AF, Wood NB, Nelson SR, Palmer BM, Yang L, Previs SB, Ploysangngam A, Kennedy GG, McAdow JF, Tremble SM, Cipolla MJ, Ebert AM, Johnson AN, Gurnett CA, Previs MJ, Warshaw DM. Mead AF, et al. Among authors: gurnett ca. bioRxiv [Preprint]. 2024 May 13:2024.05.10.593199. doi: 10.1101/2024.05.10.593199. bioRxiv. 2024. Update in: J Gen Physiol. 2024 Dec 2;156(12):e202413604. doi: 10.1085/jgp.202413604 PMID: 38798399 Free PMC article. Updated. Preprint.
Beta subunit heterogeneity in N-type Ca2+ channels.
Scott VE, De Waard M, Liu H, Gurnett CA, Venzke DP, Lennon VA, Campbell KP. Scott VE, et al. Among authors: gurnett ca. J Biol Chem. 1996 Feb 9;271(6):3207-12. doi: 10.1074/jbc.271.6.3207. J Biol Chem. 1996. PMID: 8621722 Free article.
148 results