Mutations References

1. De novo gene disruptions in children on the autistic spectrum.
Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR, Wigler M.
Neuron. 2012 Apr 26;74(2):285-99

2. Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Neale BM, Kou Y, Liu L, Ma’ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Nature. 2012 Apr 4;485(7397):242-5. doi: 10.1038/nature11011.

3. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
O’Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989.

4. Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses.
Gilman SR, Iossifov I, Levy D, Ronemus M, Wigler M, Vitkup D. Neuron. 2011 Jun 9;70(5):898-907.

5. Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M.
Neuron. 2011 Jun 9;70(5):886-97.

6. Solving the autism puzzle a few pieces at a time.
Schaaf CP, Zoghbi HY. Neuron. 2011 Jun 9;70(5):806-8. Erratum in: Neuron. 2011 Jul 14;71(1):195.

7. Identification of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of Autism.
Gau SS, Liao HM, Hong CC, Chien WH, Chen CH.
Am J Med Genet B Neuropsychiatr Genet. 2012 Jul 9. doi: 10.1002/ajmg.b.32074. [Epub ahead of print]

8. Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders.
Luo R, Sanders SJ, Tian Y, Voineagu I, Huang N, Chu SH, Klei L, Cai C, Ou J, Lowe JK, Hurles ME, Devlin B, State MW, Geschwind DH.
Am J Hum Genet. 2012 Jun 21. [Epub ahead of print]

9. DELISHUS: an efficient and exact algorithm for genome-wide detection of deletion polymorphism in autism.
Aguiar D, Halldórsson BV, Morrow EM, Istrail S. Bioinformatics. 2012 Jun 15;28(12):i154-i162.

10. Haploinsufficiency of CMIP in a Girl With Autism Spectrum Disorder and Developmental Delay due to a De Novo Deletion on Chromosome 16q23.2.
Van der Aa N, Vandeweyer G, Reyniers E, Kenis S, Dom L, Mortier G, Rooms L, Kooy RF. Autism Res. 2012 Jun 11. doi: 10.1002/aur.1240. [Epub ahead of print]

11. A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.
Ku CS, Polychronakos C, Tan EK, Naidoo N, Pawitan Y, Roukos DH, Mort M, Cooper DN. Mol Psychiatry. 2012 May 29. doi: 10.1038/mp.2012.58. [Epub ahead of print]

12. De novo gene disruptions in children on the autistic spectrum.
Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR, Wigler M.
Neuron. 2012 Apr 26;74(2):285-99.

13. 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.
Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945

14. Networks of neuronal genes affected by common and rare variants in autism spectrum disorders.
Ben-David E, Shifman S. PLoS Genet. 2012 Mar;8(3):e1002556. Epub 2012 Mar 8.

15. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsäter H, Nygren G, Gillberg IC, Melke J, Toro R, Regnault B, Fauchereau F, Mercati O, Lemière N, Skuse D, Poot M, Holt R, Monaco AP, Järvelä I, Kantojärvi K, Vanhala R, Curran S, Collier DA, Bolton P, Chiocchetti A, Klauck SM, Poustka F, Freitag CM, Waltes R, Kopp M, Duketis E, Bacchelli E, Minopoli F, Ruta L, Battaglia A, Mazzone L, Maestrini E, Sequeira AF, Oliveira B, Vicente A, Oliveira G, Pinto D, Scherer SW, Zelenika D, Delepine M, Lathrop M, Bonneau D, Guinchat V, Devillard F, Assouline B, Mouren MC, Leboyer M, Gillberg C, Boeckers TM, Bourgeron T.
PLoS Genet. 2012 Feb;8(2):e1002521. Epub 2012 Feb 9.

16. Novel mutations in autism highlight the importance of genetic and environmental contexts in studies of humanneurodevelopment.
[No authors listed]
Clin Genet. 2011 Aug 5. doi: 10.1111/j.1399-0004.2011.01760.x. [Epub ahead of print]

17. A strategy to identify de novo mutations in common disorders such as autism and schizophrenia.
Julie G, Hamdan FF, Rouleau GA. J Vis Exp. 2011 Jun 15;(52). pii: 2534. doi: 10.3791/2534.

18. Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M. Neuron. 2011 Jun 9;70(5):886-97.

19. 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. Neuron. 2011 Jun 9;70(5):863-85.

20. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
O’Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. Nat Genet. 2011 Jun;43(6):585-9. Epub 2011 May 15. Erratum in: Nat Genet. 2012 Apr;44(4):471

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