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Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.
Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW. Ercan-Sencicek AG, et al. Among authors: sanders sj. Eur J Hum Genet. 2015 Feb;23(2):165-72. doi: 10.1038/ejhg.2014.82. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781755 Free PMC article.
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW. Sanders SJ, et al. Neuron. 2011 Jun 9;70(5):863-85. doi: 10.1016/j.neuron.2011.05.002. Neuron. 2011. PMID: 21658581 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.
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism.
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Fernandez TV, et al. Among authors: sanders sj. Biol Psychiatry. 2012 Mar 1;71(5):392-402. doi: 10.1016/j.biopsych.2011.09.034. Epub 2011 Dec 14. Biol Psychiatry. 2012. PMID: 22169095 Free PMC article.
A balanced t(10;15) translocation in a male patient with developmental language disorder.
Ercan-Sencicek AG, Davis Wright NR, Sanders SJ, Oakman N, Valdes L, Bakkaloglu B, Doyle N, Yrigollen CM, Morgan TM, Grigorenko EL. Ercan-Sencicek AG, et al. Among authors: sanders sj. Eur J Med Genet. 2012 Feb;55(2):128-31. doi: 10.1016/j.ejmg.2011.12.005. Epub 2011 Dec 29. Eur J Med Genet. 2012. PMID: 22266071 Free PMC article.
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. Sanders SJ, et al. Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945. Nature. 2012. PMID: 22495306 Free PMC article.
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Novarino G, et al. Among authors: sanders sj. Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6. Science. 2012. PMID: 22956686 Free PMC article.
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM; NHLBI Exome Sequencing Project; State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ. Lim ET, et al. Among authors: sanders sj. Neuron. 2013 Jan 23;77(2):235-42. doi: 10.1016/j.neuron.2012.12.029. Neuron. 2013. PMID: 23352160 Free PMC article.
176 results