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Page 1
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S. Velinov M, et al. Among authors: konidari i. PLoS One. 2012;7(1):e29729. doi: 10.1371/journal.pone.0029729. Epub 2012 Jan 3. PLoS One. 2012. PMID: 22235333 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.
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
Naj AC, Beecham GW, Martin ER, Gallins PJ, Powell EH, Konidari I, Whitehead PL, Cai G, Haroutunian V, Scott WK, Vance JM, Slifer MA, Gwirtsman HE, Gilbert JR, Haines JL, Buxbaum JD, Pericak-Vance MA. Naj AC, et al. Among authors: konidari i. PLoS Genet. 2010 Sep 23;6(9):e1001130. doi: 10.1371/journal.pgen.1001130. PLoS Genet. 2010. PMID: 20885792 Free PMC article.
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Salyakina D, Cukier HN, Lee JM, Sacharow S, Nations LD, Ma D, Jaworski JM, Konidari I, Whitehead PL, Wright HH, Abramson RK, Williams SM, Menon R, Haines JL, Gilbert JR, Cuccaro ML, Pericak-Vance MA. Salyakina D, et al. Among authors: konidari i. PLoS One. 2011;6(10):e26049. doi: 10.1371/journal.pone.0026049. Epub 2011 Oct 7. PLoS One. 2011. PMID: 22016809 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.
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.
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.
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.
32 results