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Page 1
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. Among authors: goh gs. Neuron. 2011 Jun 9;70(5):863-85. doi: 10.1016/j.neuron.2011.05.002. Neuron. 2011. PMID: 21658581 Free PMC article.
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.
Juhlin CC, Goh G, Healy JM, Fonseca AL, Scholl UI, Stenman A, Kunstman JW, Brown TC, Overton JD, Mane SM, Nelson-Williams C, Bäckdahl M, Suttorp AC, Haase M, Choi M, Schlessinger J, Rimm DL, Höög A, Prasad ML, Korah R, Larsson C, Lifton RP, Carling T. Juhlin CC, et al. J Clin Endocrinol Metab. 2015 Mar;100(3):E493-502. doi: 10.1210/jc.2014-3282. Epub 2014 Dec 9. J Clin Endocrinol Metab. 2015. PMID: 25490274 Free PMC article.
Absence of KMT2D/MLL2 mutations in abdominal paraganglioma.
Stenman A, Juhlin CC, Haglund F, Brown TC, Clark VE, Svahn F, Bilguvar K, Goh G, Korah R, Lifton RP, Carling T. Stenman A, et al. Clin Endocrinol (Oxf). 2016 Apr;84(4):632-4. doi: 10.1111/cen.12884. Epub 2015 Sep 22. Clin Endocrinol (Oxf). 2016. PMID: 26303934 No abstract available.
Association and mutation analyses of 16p11.2 autism candidate genes.
Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL. Kumar RA, et al. PLoS One. 2009;4(2):e4582. doi: 10.1371/journal.pone.0004582. Epub 2009 Feb 26. PLoS One. 2009. PMID: 19242545 Free PMC article.
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
Goh G, Scholl UI, Healy JM, Choi M, Prasad ML, Nelson-Williams C, Kunstman JW, Korah R, Suttorp AC, Dietrich D, Haase M, Willenberg HS, Stålberg P, Hellman P, Akerström G, Björklund P, Carling T, Lifton RP. Goh G, et al. Nat Genet. 2014 Jun;46(6):613-7. doi: 10.1038/ng.2956. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747643 Free PMC article.
Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.
Juhlin CC, Stenman A, Haglund F, Clark VE, Brown TC, Baranoski J, Bilguvar K, Goh G, Welander J, Svahn F, Rubinstein JC, Caramuta S, Yasuno K, Günel M, Bäckdahl M, Gimm O, Söderkvist P, Prasad ML, Korah R, Lifton RP, Carling T. Juhlin CC, et al. Genes Chromosomes Cancer. 2015 Sep;54(9):542-54. doi: 10.1002/gcc.22267. Epub 2015 May 29. Genes Chromosomes Cancer. 2015. PMID: 26032282 Free PMC article.
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.
Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, Bosenberg M, Sznol M, Kluger HM, Brash DE, Stern DF, Materin MA, Lo RS, Mane S, Ma S, Kidd KK, Hayward NK, Lifton RP, Schlessinger J, Boggon TJ, Halaban R. Krauthammer M, et al. Nat Genet. 2012 Sep;44(9):1006-14. doi: 10.1038/ng.2359. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842228 Free PMC article.
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Åkerström G, Björklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP. Scholl UI, et al. Nat Genet. 2013 Sep;45(9):1050-4. doi: 10.1038/ng.2695. Epub 2013 Aug 4. Nat Genet. 2013. PMID: 23913001 Free PMC article.
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.
Kunstman JW, Juhlin CC, Goh G, Brown TC, Stenman A, Healy JM, Rubinstein JC, Choi M, Kiss N, Nelson-Williams C, Mane S, Rimm DL, Prasad ML, Höög A, Zedenius J, Larsson C, Korah R, Lifton RP, Carling T. Kunstman JW, et al. Hum Mol Genet. 2015 Apr 15;24(8):2318-29. doi: 10.1093/hmg/ddu749. Epub 2015 Jan 9. Hum Mol Genet. 2015. PMID: 25576899 Free PMC article.
215 results