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Page 1
Variants in several genomic regions associated with asperger disorder.
Salyakina D, Ma DQ, Jaworski JM, Konidari I, Whitehead PL, Henson R, Martinez D, Robinson JL, Sacharow S, Wright HH, Abramson RK, Gilbert JR, Cuccaro ML, Pericak-Vance MA. Salyakina D, et al. Autism Res. 2010 Dec;3(6):303-10. doi: 10.1002/aur.158. Autism Res. 2010. PMID: 21182207 Free PMC article.
Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.
Cukier HN, Salyakina D, Blankstein SF, Robinson JL, Sacharow S, Ma D, Wright HH, Abramson RK, Menon R, Williams SM, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA. Cukier HN, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Jun;156B(4):493-501. doi: 10.1002/ajmg.b.31188. Epub 2011 Apr 7. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21480499 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. PLoS One. 2011;6(10):e26049. doi: 10.1371/journal.pone.0026049. Epub 2011 Oct 7. PLoS One. 2011. PMID: 22016809 Free PMC article.
Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci.
Hedges DJ, Hamilton-Nelson KL, Sacharow SJ, Nations L, Beecham GW, Kozhekbaeva ZM, Butler BL, Cukier HN, Whitehead PL, Ma D, Jaworski JM, Nathanson L, Lee JM, Hauser SL, Oksenberg JR, Cuccaro ML, Haines JL, Gilbert JR, Pericak-Vance MA. Hedges DJ, et al. Among authors: sacharow sj. Mol Autism. 2012 Apr 2;3:2. doi: 10.1186/2040-2392-3-2. Mol Autism. 2012. PMID: 22472195 Free PMC article.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HAF, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. Küry S, et al. Among authors: sacharow s. Am J Hum Genet. 2017 Feb 2;100(2):352-363. doi: 10.1016/j.ajhg.2017.01.003. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132691 Free PMC article.
Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion.
de Kock L, Geoffrion D, Rivera B, Wagener R, Sabbaghian N, Bens S, Ellezam B, Bouron-Dal Soglio D, Ordóñez J, Sacharow S, Polo Nieto JF, Guillerman RP, Vujanic GM, Priest JR, Siebert R, Foulkes WD. de Kock L, et al. Genes Chromosomes Cancer. 2018 May;57(5):223-230. doi: 10.1002/gcc.22523. Epub 2018 Feb 10. Genes Chromosomes Cancer. 2018. PMID: 29315962
36 results