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2 Article(s) on File
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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]

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford HC,
Sharp AJ,
Baker C,
Itsara A,
Jiang Z,
Buysse K,
Huang S,
Maloney VK,
Crolla JA,
Baralle D,
Collins A,
Mercer C,
Norga K,
de Ravel T,
Devriendt K,
Bongers EM,
de Leeuw N,
Reardon W,
Gimelli S,
Bena F,
Hennekam RC,
Male A,
Gaunt L,
Clayton-Smith J,
Simonic I,
Park SM,
Mehta SG,
Nik-Zainal S,
Woods CG,
Firth HV,
Parkin G,
Fichera M,
Reitano S,
Lo Giudice M,
Li KE,
Casuga I,
Broomer A,
Conrad B,
Schwerzmann M,
Raber L,
Gallati S,
Striano P,
Coppola A,
Tolmie JL,
Tobias ES,
Lilley C,
Armengol L,
Spysschaert Y,
Verloo P,
De Coene A,
Goossens L,
Mortier G,
Speleman F,
van Binsbergen E,
Nelen MR,
Hochstenbach R,
Poot M,
Gallagher L,
Gill M,
McClellan J,
King MC,
Regan R,
Skinner C,
Stevenson RE,
Antonarakis SE,
Chen C,
Estivill X,
Menten B,
Gimelli G,
Gribble S,
Schwartz S,
Sutcliffe JS,
Walsh T,
Knight SJ,
Sebat J,
Romano C,
Schwartz CE,
Veltman JA,
de Vries BB,
Vermeesch JR,
Barber JC,
Willatt L,
Tassabehji M,
Eichler EE

N Engl J Med
  359 (16): 1685-99; Oct 16 2008   PMCID: PMC2703742
[Abstract]
[DOI] [Full Text] [PDF]


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