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Page 1
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Brand H, Collins RL, Hanscom C, Rosenfeld JA, Pillalamarri V, Stone MR, Kelley F, Mason T, Margolin L, Eggert S, Mitchell E, Hodge JC, Gusella JF, Sanders SJ, Talkowski ME. Brand H, et al. Among authors: sanders sj. Am J Hum Genet. 2015 Jul 2;97(1):170-6. doi: 10.1016/j.ajhg.2015.05.012. Epub 2015 Jun 18. Am J Hum Genet. 2015. PMID: 26094575 Free PMC article.
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Moreno-De-Luca D; SGENE Consortium; Mulle JG; Simons Simplex Collection Genetics Consortium; Kaminsky EB, Sanders SJ; GeneSTAR; Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Moreno-De-Luca D, et al. Among authors: sanders sj. Am J Hum Genet. 2010 Nov 12;87(5):618-30. doi: 10.1016/j.ajhg.2010.10.004. Epub 2010 Nov 4. Am J Hum Genet. 2010. PMID: 21055719 Free PMC article.
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH Jr, Stankiewicz P, State MW, Beaudet AL. Celestino-Soper PB, et al. Among authors: sanders sj. Hum Mol Genet. 2011 Nov 15;20(22):4360-70. doi: 10.1093/hmg/ddr363. Epub 2011 Aug 24. Hum Mol Genet. 2011. PMID: 21865298 Free PMC article.
Copy-number disorders are a common cause of congenital kidney malformations.
Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, Carrea A, Somenzi D, Murtas C, Ristoska-Bojkovska N, Izzi C, Bianco B, Zaniew M, Flogelova H, Weng PL, Kacak N, Giberti S, Gigante M, Arapovic A, Drnasin K, Caridi G, Curioni S, Allegri F, Ammenti A, Ferretti S, Goj V, Bernardo L, Jobanputra V, Chung WK, Lifton RP, Sanders S, State M, Clark LN, Saraga M, Padmanabhan S, Dominiczak AF, Foroud T, Gesualdo L, Gucev Z, Allegri L, Latos-Bielenska A, Cusi D, Scolari F, Tasic V, Hakonarson H, Ghiggeri GM, Gharavi AG. Sanna-Cherchi S, et al. Am J Hum Genet. 2012 Dec 7;91(6):987-97. doi: 10.1016/j.ajhg.2012.10.007. Epub 2012 Nov 15. Am J Hum Genet. 2012. PMID: 23159250 Free PMC article.
A framework for the interpretation of de novo mutation in human disease.
Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, DePristo M, Purcell SM, Palotie A, Boerwinkle E, Buxbaum JD, Cook EH Jr, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Neale BM, Daly MJ. Samocha KE, et al. Among authors: sanders sj. Nat Genet. 2014 Sep;46(9):944-50. doi: 10.1038/ng.3050. Epub 2014 Aug 3. Nat Genet. 2014. PMID: 25086666 Free PMC article.
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.
Murdoch JD, Gupta AR, Sanders SJ, Walker MF, Keaney J, Fernandez TV, Murtha MT, Anyanwu S, Ober GT, Raubeson MJ, DiLullo NM, Villa N, Waqar Z, Sullivan C, Gonzalez L, Willsey AJ, Choe SY, Neale BM, Daly MJ, State MW. Murdoch JD, et al. Among authors: sanders sj. PLoS Genet. 2015 Jan 26;11(1):e1004852. doi: 10.1371/journal.pgen.1004852. eCollection 2015 Jan. PLoS Genet. 2015. PMID: 25621974 Free PMC article.
Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.
Maier R, Moser G, Chen GB, Ripke S; Cross-Disorder Working Group of the Psychiatric Genomics Consortium; Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultman CM, Landén M, Levinson DF, Kendler KS, Smoller JW, Wray NR, Lee SH. Maier R, et al. Am J Hum Genet. 2015 Feb 5;96(2):283-94. doi: 10.1016/j.ajhg.2014.12.006. Epub 2015 Jan 29. Am J Hum Genet. 2015. PMID: 25640677 Free PMC article.
Loss of δ-catenin function in severe autism.
Turner TN, Sharma K, Oh EC, Liu YP, Collins RL, Sosa MX, Auer DR, Brand H, Sanders SJ, Moreno-De-Luca D, Pihur V, Plona T, Pike K, Soppet DR, Smith MW, Cheung SW, Martin CL, State MW, Talkowski ME, Cook E, Huganir R, Katsanis N, Chakravarti A. Turner TN, et al. Among authors: sanders sj. Nature. 2015 Apr 2;520(7545):51-6. doi: 10.1038/nature14186. Epub 2015 Mar 25. Nature. 2015. PMID: 25807484 Free PMC article.
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF 3rd, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW; Autism Sequencing Consortium; Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW. Sanders SJ, et al. Neuron. 2015 Sep 23;87(6):1215-1233. doi: 10.1016/j.neuron.2015.09.016. Neuron. 2015. PMID: 26402605 Free PMC article.
177 results