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Page 1
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P. Bowne SJ, et al. Among authors: konidari i. Eur J Hum Genet. 2011 Oct;19(10):1074-81. doi: 10.1038/ejhg.2011.86. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654732 Free PMC article.
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk.
International Multiple Sclerosis Genetics Consortium. Electronic address: chris.cotsapas@yale.edu; International Multiple Sclerosis Genetics Consortium. International Multiple Sclerosis Genetics Consortium. Electronic address: chris.cotsapas@yale.edu, et al. Cell. 2019 Jun 27;178(1):262. doi: 10.1016/j.cell.2019.06.016. Cell. 2019. PMID: 31251915 Free PMC article. No abstract available.
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, Andersen AN, Hoffman JD, Slifer SH, Hedges DJ, Cukier HN, Griswold AJ, McCauley JL, Beecham GW, Wright HH, Abramson RK, Martin ER, Hussman JP, Gilbert JR, Cuccaro ML, Haines JL, Pericak-Vance MA. Ma D, et al. Among authors: konidari i. Ann Hum Genet. 2009 May;73(Pt 3):263-73. doi: 10.1111/j.1469-1809.2009.00523.x. Ann Hum Genet. 2009. PMID: 19456320 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. Among authors: konidari i. 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.
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
Cukier HN, Dueker ND, Slifer SH, Lee JM, Whitehead PL, Lalanne E, Leyva N, Konidari I, Gentry RC, Hulme WF, Booven DV, Mayo V, Hofmann NK, Schmidt MA, Martin ER, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA. Cukier HN, et al. Among authors: konidari i. Mol Autism. 2014 Jan 10;5(1):1. doi: 10.1186/2040-2392-5-1. Mol Autism. 2014. PMID: 24410847 Free PMC article.
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.
Griswold AJ, Dueker ND, Van Booven D, Rantus JA, Jaworski JM, Slifer SH, Schmidt MA, Hulme W, Konidari I, Whitehead PL, Cuccaro ML, Martin ER, Haines JL, Gilbert JR, Hussman JP, Pericak-Vance MA. Griswold AJ, et al. Among authors: konidari i. Mol Autism. 2015 Jul 7;6:43. doi: 10.1186/s13229-015-0034-z. eCollection 2015. Mol Autism. 2015. PMID: 26185613 Free PMC article.
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang L, Züchner S, Konidari I, Wang G, Singer C, Nahab F, Scott B, Stajich JM, Pericak-Vance M, Haines J, Vance JM, Martin ER. Edwards TL, et al. Among authors: konidari i. Ann Hum Genet. 2010 Mar;74(2):97-109. doi: 10.1111/j.1469-1809.2009.00560.x. Epub 2010 Jan 8. Ann Hum Genet. 2010. PMID: 20070850 Free PMC article.
Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
Cummings AC, Jiang L, Velez Edwards DR, McCauley JL, Laux R, McFarland LL, Fuzzell D, Knebusch C, Caywood L, Reinhart-Mercer L, Nations L, Gilbert JR, Konidari I, Tramontana M, Cuccaro ML, Scott WK, Pericak-Vance MA, Haines JL. Cummings AC, et al. Among authors: konidari i. Ann Hum Genet. 2012 Sep;76(5):342-51. doi: 10.1111/j.1469-1809.2012.00721.x. Ann Hum Genet. 2012. PMID: 22881374 Free PMC article.
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Griswold AJ, Ma D, Cukier HN, Nations LD, Schmidt MA, Chung RH, Jaworski JM, Salyakina D, Konidari I, Whitehead PL, Wright HH, Abramson RK, Williams SM, Menon R, Martin ER, Haines JL, Gilbert JR, Cuccaro ML, Pericak-Vance MA. Griswold AJ, et al. Among authors: konidari i. Hum Mol Genet. 2012 Aug 1;21(15):3513-23. doi: 10.1093/hmg/dds164. Epub 2012 Apr 27. Hum Mol Genet. 2012. PMID: 22543975 Free PMC article.
32 results