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Page 1
When is an SNP not an SNP?
Jalilzadeh S, Walker V, Leggatt GP, Hatchwell E. Jalilzadeh S, et al. Among authors: hatchwell e. Biotechniques. 2024;76(9):433-441. doi: 10.1080/07366205.2024.2387993. Epub 2024 Sep 12. Biotechniques. 2024. PMID: 39263936 Free article.
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. Front Neurol. 2022 Dec 14;13:1016377. doi: 10.3389/fneur.2022.1016377. eCollection 2022. Front Neurol. 2022. PMID: 36588876 Free PMC article.
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice.
Cheng C, Cleak J, Weiss L, Cater H, Stewart M, Wells S, Columbres RC, Shmara A, Morato Torres CA, Zafar F, Schüle B, Neumann J, Hatchwell E, Kimonis V. Cheng C, et al. Among authors: hatchwell e. Orphanet J Rare Dis. 2022 Oct 24;17(1):386. doi: 10.1186/s13023-022-02446-y. Orphanet J Rare Dis. 2022. PMID: 36280881 Free PMC 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: hatchwell e. 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.
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. Among authors: hatchwell e. Front Neurol. 2020 Mar 17;11:186. doi: 10.3389/fneur.2020.00186. eCollection 2020. Front Neurol. 2020. PMID: 32256442 Free PMC article.
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Tropeano M, Howley D, Gazzellone MJ, Wilson CE, Ahn JW, Stavropoulos DJ, Murphy CM, Eis PS, Hatchwell E, Dobson RJ, Robertson D, Holder M, Irving M, Josifova D, Nehammer A, Ryten M, Spain D, Pitts M, Bramham J, Asherson P, Curran S, Vassos E, Breen G, Flinter F, Ogilvie CM, Collier DA, Scherer SW, McAlonan GM, Murphy DG. Tropeano M, et al. Among authors: hatchwell e. J Med Genet. 2016 Aug;53(8):536-47. doi: 10.1136/jmedgenet-2015-103621. Epub 2016 Apr 12. J Med Genet. 2016. PMID: 27073233
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: hatchwell e. 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.
69 results