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Page 1
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
Tantsis EM, Gill D, Griffiths L, Gupta S, Lawson J, Maksemous N, Ouvrier R, Riant F, Smith R, Troedson C, Webster R, Menezes MP. Tantsis EM, et al. Among authors: smith r. Dev Med Child Neurol. 2016 Jun;58(6):639-44. doi: 10.1111/dmcn.13033. Epub 2016 Jan 27. Dev Med Child Neurol. 2016. PMID: 26814174 Free article.
Clinical and genetic spectrum of SCN2A-associated episodic ataxia.
Schwarz N, Bast T, Gaily E, Golla G, Gorman KM, Griffiths LR, Hahn A, Hukin J, King M, Korff C, Miranda MJ, Møller RS, Neubauer B, Smith RA, Smol T, Striano P, Stroud B, Vaccarezza M, Kluger G, Lerche H, Fazeli W. Schwarz N, et al. Among authors: smith ra. Eur J Paediatr Neurol. 2019 May;23(3):438-447. doi: 10.1016/j.ejpn.2019.03.001. Epub 2019 Mar 7. Eur J Paediatr Neurol. 2019. PMID: 30928199
The protocol for an observational Australian cohort study of CADASIL: The AusCADASIL study.
Saks DG, Bajorek B, Catts VS, Bentvelzen AC, Jiang J, Wen W, Mather KA, Thalamuthu A, Huang-Lung J, Nivison-Smith L, Griffiths LR, Smith RA, Sexton A, James P, Jayasena T, Poljak A, Hansra GK, Hosoki S, Park A, Hillenbrand CM, van Wijngaarden P, Chander RJ, Humphrey S, Chen R, Kochan NA, Helman TJ, Levi C, Brodtmann A, O'Sullivan MJ, Markus R, Butcher K, Parsons M, Kovacic JC, Sachdev PS. Saks DG, et al. Among authors: smith ra. Cereb Circ Cogn Behav. 2024 May 27;6:100225. doi: 10.1016/j.cccb.2024.100225. eCollection 2024. Cereb Circ Cogn Behav. 2024. PMID: 38841148 Free PMC article.
Tiered analysis of whole-exome sequencing for epilepsy diagnosis.
Dunn PJ, Maher BH, Albury CL, Stuart S, Sutherland HG, Maksemous N, Benton MC, Smith RA, Haupt LM, Griffiths LR. Dunn PJ, et al. Among authors: smith ra. Mol Genet Genomics. 2020 May;295(3):751-763. doi: 10.1007/s00438-020-01657-x. Epub 2020 Mar 7. Mol Genet Genomics. 2020. PMID: 32146541
Applying Results of Extended Genotyping to Management of Positive Cervicovaginal Human Papillomavirus Test Results: Enduring Guidelines.
Massad LS, Clarke MA, Perkins RB, Garcia F, Chelmow D, Cheung LC, Darragh TM, Egemen D, Lorey TS, Nayar R, Newman M, Risley C, Smith RA, Wentzensen N; Enduring Consensus Cervical Cancer Screening and Management Guidelines Committee. Massad LS, et al. Among authors: smith ra. J Low Genit Tract Dis. 2025 Jan 10. doi: 10.1097/LGT.0000000000000865. Online ahead of print. J Low Genit Tract Dis. 2025. PMID: 39791481
Utility of Candidate Genes From an Algorithm Designed to Predict Genetic Risk for Opioid Use Disorder.
Davis CN, Jinwala Z, Hatoum AS, Toikumo S, Agrawal A, Rentsch CT, Edenberg HJ, Baurley JW, Hartwell EE, Crist RC, Gray JC, Justice AC, Gelernter J, Kember RL, Kranzler HR; VA Million Veteran Program. Davis CN, et al. JAMA Netw Open. 2025 Jan 2;8(1):e2453913. doi: 10.1001/jamanetworkopen.2024.53913. JAMA Netw Open. 2025. PMID: 39786773 Free PMC article.
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