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4 Article(s) on File
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The contribution of de novo coding mutations to autism spectrum disorder
Iossifov I,
ORoak BJ,
Sanders SJ,
Ronemus M,
Krumm N,
Levy D,
Stessman HA,
Witherspoon KT,
Vives L,
Patterson KE,
Smith JD,
Paeper B,
Nickerson DA,
Dea J,
Dong S,
Gonzalez LE,
Mandell JD,
Mane SM,
Murtha MT,
Sullivan CA,
Walker MF,
Waqar Z,
Wei L,
Willsey AJ,
Yamrom B,
Lee YH,
Grabowska E,
Dalkic E,
Wang Z,
Marks S,
Andrews P,
Leotta A,
Kendall J,
Hakker I,
Rosenbaum J,
Ma B,
Rodgers L,
Troge J,
Narzisi G,
Yoon S,
Schatz MC,
Ye K,
McCombie WR,
Shendure J,
Eichler EE,
State MW,
Wigler M

Nature
  515 (7526): 2160-U136; Nov 13 2014   NLM
[Abstract]
[DOI] [Full Text]

Mutation discovery in mice by whole exome sequencing
Fairfield H,
Gilbert GJ,
Barter M,
Corrigan RR,
Curtain M,
Ding YM,
DAscenzo M,
Gerhardt DJ,
He C,
Huang WH,
Richmond T,
Rowe L,
Probst FJ,
Bergstrom DE,
Murray SA,
Bult C,
Richardson J,
Kile BT,
Gut I,
Hager J,
Sigurdsson S,
Mauceli E,
Di Palma F,
Lindblad-Toh K,
Cunningham ML,
Cox TC,
Justice MJ,
Spector MS,
Lowe SW,
Albert T,
Donahue LR,
Jeddeloh J,
Shendure J,
Reinholdt LG

Genome Biology
  12 (9): 2011  
[Abstract]
[DOI] [Full Text]

Balance of the x restored: evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster
Deng X,
Hiatt JB,
Nguyen DK,
Ercan S,
Sturgill D,
Hillier LW,
Schlesinger F,
Davis CA,
Reinke VJ,
Gingeras TR,
Shendure J,
Waterston RH,
Oliver B,
Lieb JD,
Disteche CM

Nature Genetics
  (0): 2011  
[Abstract]
[DOI] [Full Text]

Targeted enrichment of specific regions in the human genome by array hybridization
Igartua C,
Turner EH,
Ng SB,
Hodges E,
Hannon GJ,
Bhattacharjee A,
Rieder MJ,
Nickerson DA,
Shendure J

Current Protocols in Human Genetics
  66 (0): 18.3.1-18.3.14; Jul 2010   PMCID: PMC2910258
[Abstract]
[DOI] [Full Text] [PDF]


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