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2 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]

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Girirajan S,
Rosenfeld JA,
Cooper GM,
Antonacci F,
Siswara P,
Itsara A,
Vives L,
Walsh T,
McCarthy SE,
Baker C,
Mefford HC,
Kidd JM,
Browning SR,
Browning BL,
Dickel DE,
Levy DL,
Ballif BC,
Platky K,
Farber DM,
Gowans GC,
Wetherbee JJ,
Asamoah A,
Weaver DD,
Mark PR,
Dickerson J,
Garg BP,
Ellingwood SA,
Smith R,
Banks VC,
Smith W,
McDonald MT,
Hoo JJ,
French BN,
Hudson C,
Johnson JP,
Ozmore JR,
Moeschler JB,
Surti U,
Escobar LF,
El-Khechen D,
Gorski JL,
Kussmann J,
Salbert B,
Lacassie Y,
Biser A,
McDonald-McGinn DM,
Zackai EH,
Deardorff MA,
Shaikh TH,
Haan E,
Friend KL,
Fichera M,
Romano C,
Gécz J,
DeLisi LE,
Sebat J,
King MC,
Shaffer LG,
Eichler EE

Nature Genetics
  (0): Feb 14 2010   PMCID: PMC2847896
[Abstract]
[DOI] [Full Text] [PDF]


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