[1] Poduri A, Evrony GD, Cai X, Walsh CA. Somatic mutation, genomic variation, and neurological disease. Science , 2013, 341(6141): 1237758.
[2] Rondelli T, Berardi M, Peruzzi B, Boni L, Caporale R, Dolara P, Notaro R, Luzzatto L. The frequency of granulocytes with spontaneous somatic mutations: a wide distribution in a normal human population. PLoS One , 2013, 8(1): e54046.
[3] Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir A, Jonasdottir A, Wong WSW, Sigurdsson G, Walters GB, Steinberg S, Helgason H, Thorleifsson G, Gudbjartsson DF, Helgason A, Magnusson OT, Thorsteinsdottir U, Stefansson K. Rate of de novo mutations and the importance of father's age to disease risk. Nature , 2012, 488(7412): 471-475.
[4] Li R, Montpetit A, Rousseau M, Wu SYM, Greenwood CMT, Spector TD, Pollak M, Polychronakos C, Richards JB. Somatic point mutations occurring early in development: a monozygotic twin study. J Med Genet , 2014, 51(1): 28-34.
[5] Frank SA. Somatic evolutionary genomics: mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration. Proc Natl Acad Sci USA , 2010, 107(Suppl. 1): 1725-1730.
[6] Dollé MET, Giese H, Hopkins CL, Martus HJ, Hausdorff JM, Vijg J. Rapid accumulation of genome rearrangements in liver but not in brain of old mice. Nat Genet , 1997, 17(4): 431-434.
[7] Dollé MET, Snyder WK, Gossen JA, Lohman PHM, Vijg J. Distinct spectra of somatic mutations accumulated with age in mouse heart and small intestine. Proc Natl Acad Sci USA , 2000, 97(15): 8403-8408.
[8] Vijg J. Somatic mutations and aging: a re-evaluation. Mutat Res/Fund Mol M , 2000, 447(1): 117-135.
[9] Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med , 1991, 325(24): 1688-1695.
[10] Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ . N Engl J Med , 2013, 368(21): 1971-1979.
[11] Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med , 2011, 365(7): 611-619.
[12] Poduri A, Evrony GD, Cai XY, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BFD, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron , 2012, 74(1): 41-48.
[13] Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM, Jr., Boycott KM, Dobyns WB. De novo germline and postzygotic mutations in AKT3 , PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet , 2012, 44(8): 934-940.
[14] Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, Bafna V, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG. De novo somatic mutations in components of the PI3K-AKT3- mTOR pathway cause hemimegalencephaly. Nat Genet , 2012, 44(8): 941-945.
[15] Garcia-Linares C, Fernández-Rodríguez J, Terribas E, Mercadé J, Pros E, Benito L, Benavente Y, Capellà G, Ravella A, Blanco I, Kehrer-Sawatzki H, Lázaro C, Serra E. Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH. Hum Mutat , 2011, 32(1): 78-90.
[16] Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, Veltman JA, Hoischen A, Vissers LELM, Gilissen C. Post-zygotic point mutations are an underrecognized source of de novo genomic variation. Am J Hum Genet , 2015, 97(1): 67-74.
[17] Park CK, Lee SH, Kim JY, Kim JE, Kim TM, Lee ST, Choi SH, Park SH, Kim IH. Expression level of hTERT is regulated by somatic mutation and common single nucleotide polymorphism at promoter region in glioblastoma. Oncotarget , 2014, 5(10): 3399-3407.
[18] Chen XY, Lu F, Wang YM, Yang Y, Wei GQ, Wu D, Wang LF, Wu YM. PTEN inactivation by germline/somatic c.950_ 953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes. Clin Genet , 2014, 86(4): 349-354.
[19] Wiest V, Eisenbarth I, Schmegner C, Krone W, Assum G. Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers. Hum Mutat , 2003, 22(6): 423-427.
[20] Wei JS, Johansson P, Chen L, Song YK, Tolman C, Li S, Hurd L, Patidar R, Wen XY, Badgett TC, Cheuk AT, Marshall JC, Steeg PS, Vaqué Díez JP, Yu YL, Gutkind JS, Khan J. Massively parallel sequencing reveals an accumulation of de novo mutations and an activating mutation of LPAR1 in a patient with metastatic neuroblastoma. PLoS One , 2013, 8(10): e77731.
[21] Zhang LW, Chen LH, Wan H, Yang R, Wang ZH, Feng J, Yang SH, Jones S, Wang SZ, Zhou WX, Zhu HS, Killela PJ, Zhang JT, Wu Z, Li GL, Hao SY, Wang Y, Webb JB, Friedman HS, Friedman AH, McLendon RE, He YP, Reitman ZJ, Bigner DD, Yan H. Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas. Nat Genet , 2014, 46(7): 726-730.
[22] Insel TR. Brain somatic mutations: the dark matter of psychiatric genetics? Mol Psychiatry , 2014, 19(2): 156-158.
[23] Chen XL, Wang JM, Xie H, Zhou WJ, Wu Y, Wang J, Qin J, Guo J, Gu Q, Zhang XZ, Ji TY, Zhang Y, Xiong ZM, Wang LW, Wu XR, Latham GJ, Jiang YW. Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder. BMC Pediatr , 2015, 15: 77.
[24] Luo SY, Huang W, Xia QP, Xia Y, Du Q, Wu LQ, Duan RH. Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report. BMC Med Genet , 2014, 15: 125.
[25] Peprah E. Fragile X syndrome: the FMR1 CGG repeat distribution among world populations. Ann Hum Genet , 2012, 76(2): 178-191.
[26] Jamuar SS, Lam ATN, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang XC, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen YP, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic mutations in cerebral cortical malformations. N Engl J Med , 2014, 371(8): 733-743.
[27] Lim JS, Kim WI, Kang HC, Kim SH, Park AH, Park EK, Cho YW, Kim S, Kim HM, Kim JA, Kim J, Rhee H, Kang SG, Kim HD, Kim D, Kim DS, Lee JH. Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. Nat Med , 2015, 21(4): 395-400.
[28] Pieras JI, Muñoz-Cabello B, Borrego S, Marcos I, Sanchez J, Madruga M, Antiñolo G. Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male. Brain Dev , 2011, 33(7): 608-611.
[29] Huisman SA, Redeker EJW, Maas SM, Mannens MM, Hennekam RCM. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet , 2013, 50(5): 339-344.
[30] Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet , 2013, 14(4): 295-300.
[31] Pagnamenta AT, Lise S, Harrison V, Stewart H, Jayawant S, Quaghebeur G, Deng AT, Murphy VE, Akha ES, Rimmer A, Mathieson I, Knight SJ, Kini U, Taylor JC, Keays DA. Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. J Hum Genet , 2012, 57(1): 70-72.
[32] Rohlin A, Wernersson J, Engwall Y, Wiklund L, Björk J, Nordling M. Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum Mutat , 2009, 30(6): 1012-1020.
[33] Cohen ASA, Wilson SL, Trinh J, Ye XC. Detecting somatic mosaicism: considerations and clinical implications. Clin Genet , 2015, 87(6): 554-562.
[34] Gutmann DH, McLellan MD, Hussain I, Wallis JW, Fulton LL, Fulton RS, Magrini V, Demeter R, Wylie T, Kandoth C, Leonard JR, Guha A, Miller CA, Ding L, Mardis ER. Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma. Genome Res , 2013, 23(3): 431-439.
[35] Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RLD, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van Ijcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet , 2015, 23(9): 1142-1150.
[36] Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med , 2015, 17(5): 405-423.
[37] Evrony GD, Cai XY, Lee E, Bunjung Hills L, Elhosary PC, Lehmann HS, Parker JJ, Atabay KD, Gilmore EC, Poduri A, Park PJ, Walsh CA. Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell , 2012, 151(3): 483-496.
[38] Goode DL, Hunter SM, Doyle MA, Ma T, Rowley SM, Choong D, Ryland GL, Campbell IG. A simple consensus approach improves somatic mutation prediction accuracy. Genome Med , 2013, 5(9): 90.
[39] Koboldt DC, Larson DE, Wilson RK. Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection. Curr Protoc Bioinformatics , 2013, 44: 15.4.1-15.4.17.
[40] Xu HL, DiCarlo J, Satya RV, Peng Q, Wang YX. Comparison of somatic mutation calling methods in amplicon and whole exome sequence data. BMC Genomics , 2014, 15: 244.
[41] Daber R, Sukhadia S, Morrissette JJD. Understanding the limitations of next generation sequencing informatics, an approach to clinical pipeline validation using artificial data sets. Cancer Genet , 2013, 206(12): 441-448. |