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Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies.
Hatchwell E, Smith EB 3rd, Jalilzadeh S, Bruno CD, Taoufik Y, Hendel-Chavez H, Liblau R, Brassat D, Martin-Blondel G, Wiendl H, Schwab N, Cortese I, Monaco MC, Imberti L, Capra R, Oksenberg JR, Gasnault J, Stankoff B, Richmond TA, Rancour DM, Koralnik IJ, Hanson BA, Major EO, Chow CR, Eis PS. Hatchwell E, et al. Among authors: eis ps. Front Neurol. 2022 Dec 14;13:1016377. doi: 10.3389/fneur.2022.1016377. eCollection 2022. Front Neurol. 2022. PMID: 36588876 Free PMC article.
Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy.
Eis PS, Bruno CD, Richmond TA, Koralnik IJ, Hanson BA, Major EO, Chow CR, Hendel-Chavez H, Stankoff B, Gasnault J, Taoufik Y, Hatchwell E. Eis PS, et al. Front Neurol. 2020 Mar 17;11:186. doi: 10.3389/fneur.2020.00186. eCollection 2020. Front Neurol. 2020. PMID: 32256442 Free PMC article.
A high-resolution map of segmental DNA copy number variation in the mouse genome.
Graubert TA, Cahan P, Edwin D, Selzer RR, Richmond TA, Eis PS, Shannon WD, Li X, McLeod HL, Cheverud JM, Ley TJ. Graubert TA, et al. Among authors: eis ps. PLoS Genet. 2007 Jan 5;3(1):e3. doi: 10.1371/journal.pgen.0030003. Epub 2006 Nov 22. PLoS Genet. 2007. PMID: 17206864 Free PMC article.
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Richard AC, Rovelet-Lecrux A, Delaby E, Charbonnier C, Thiruvahindrapuram B, Hatchwell E, Eis PS, Afenjar A, Gilbert Dussardier B, Scherer SW, Betancur C, Campion D. Richard AC, et al. Among authors: eis ps. Am J Med Genet B Neuropsychiatr Genet. 2016 Apr;171B(3):377-82. doi: 10.1002/ajmg.b.32416. Epub 2016 Jan 14. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 26978485 Free article.
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
Kimonis V, Al Dubaisi R, Maclean AE, Hall K, Weiss L, Stover AE, Schwartz PH, Berg B, Cheng C, Parikh S, Conner BR, Wu S, Hasso AN, Scott DA, Koenig MK, Karam R, Tang S, Smith M, Chao E, Balk J, Hatchwell E, Eis PS. Kimonis V, et al. Among authors: eis ps. J Med Genet. 2021 May;58(5):314-325. doi: 10.1136/jmedgenet-2020-106846. Epub 2020 Jun 9. J Med Genet. 2021. PMID: 32518176 Free article. Review.
35 results