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Page 1
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
Cukier HN, Lee JM, Ma D, Young JI, Mayo V, Butler BL, Ramsook SS, Rantus JA, Abrams AJ, Whitehead PL, Wright HH, Abramson RK, Haines JL, Cuccaro ML, Pericak-Vance MA, Gilbert JR. Cukier HN, et al. Among authors: young ji. Autism Res. 2012 Dec;5(6):385-97. doi: 10.1002/aur.1251. Epub 2012 Oct 10. Autism Res. 2012. PMID: 23055267 Free PMC article.
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.
Züchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, Edwards YJ, Cai G, Peter I, Seo D, Buxbaum JD, Haines JL, Blanton S, Young J, Alfonso E, Vance JM, Lam BL, Peričak-Vance MA. Züchner S, et al. Am J Hum Genet. 2011 Feb 11;88(2):201-6. doi: 10.1016/j.ajhg.2011.01.001. Epub 2011 Feb 3. Am J Hum Genet. 2011. PMID: 21295283 Free PMC article.
C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.
Nuytemans K, Bademci G, Kohli MM, Beecham GW, Wang L, Young JI, Nahab F, Martin ER, Gilbert JR, Benatar M, Haines JL, Scott WK, Züchner S, Pericak-Vance MA, Vance JM. Nuytemans K, et al. Among authors: young ji. Ann Hum Genet. 2013 Sep;77(5):351-63. doi: 10.1111/ahg.12033. Epub 2013 Jul 12. Ann Hum Genet. 2013. PMID: 23845100 Free PMC article.
Use of local genetic ancestry to assess TOMM40-523' and risk for Alzheimer disease.
Bussies PL, Rajabli F, Griswold A, Dorfsman DA, Whitehead P, Adams LD, Mena PR, Cuccaro M, Haines JL, Byrd GS, Beecham GW, Pericak-Vance MA, Young JI, Vance JM. Bussies PL, et al. Among authors: young ji. Neurol Genet. 2020 Mar 3;6(2):e404. doi: 10.1212/NXG.0000000000000404. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32337333 Free PMC article.
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons.
Seabra CM, Aneichyk T, Erdin S, Tai DJC, De Esch CEF, Razaz P, An Y, Manavalan P, Ragavendran A, Stortchevoi A, Abad C, Young JI, Maciel P, Talkowski ME, Gusella JF. Seabra CM, et al. Among authors: young ji. Mol Autism. 2020 Jun 5;11(1):45. doi: 10.1186/s13229-020-00354-1. Mol Autism. 2020. PMID: 32503625 Free PMC article.
Increased APOE ε4 expression is associated with the difference in Alzheimer's disease risk from diverse ancestral backgrounds.
Griswold AJ, Celis K, Bussies PL, Rajabli F, Whitehead PL, Hamilton-Nelson KL, Beecham GW, Dykxhoorn DM, Nuytemans K, Wang L, Gardner OK, Dorfsman DA, Bigio EH, Mesulam MM, Weintraub S, Geula C, Gearing M, McGrath-Martinez E, Dalgard CL, Scott WK, Haines JL, Pericak-Vance MA, Young JI, Vance JM. Griswold AJ, et al. Among authors: young ji. Alzheimers Dement. 2021 Jul;17(7):1179-1188. doi: 10.1002/alz.12287. Epub 2021 Feb 1. Alzheimers Dement. 2021. PMID: 33522086 Free PMC article.
Identifying differential regulatory control of APOE ɛ4 on African versus European haplotypes as potential therapeutic targets.
Nuytemans K, Lipkin Vasquez M, Wang L, Van Booven D, Griswold AJ, Rajabli F, Celis K, Oron O, Hofmann N, Rolati S, Garcia-Serje C, Zhang S, Jin F, Argenziano M, Grant SFA, Chesi A, Brown CD, Young JI, Dykxhoorn DM, Pericak-Vance MA, Vance JM. Nuytemans K, et al. Among authors: young ji. Alzheimers Dement. 2022 Oct;18(10):1930-1942. doi: 10.1002/alz.12534. Epub 2022 Jan 3. Alzheimers Dement. 2022. PMID: 34978147 Free PMC article.
197 results