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Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos JT, Andrews I, Wallace G, Eichler EE, Berkovic SF, Scheffer IE. (2011). Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol Dec;70(6):974-85.

Karakoc E, Alkan C, O’Roak BJ, Dennis MY, Vives L, Mark K, Rieder MJ, Nickerson DA, Eichler EE. (2011). Detection of structural variants and indels within exome data. Nat Methods
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Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, Eichler EE. (2011). Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes. PLoS Genet Nov;7(11):e1002334.

Muhle H, Mefford HC, Obermeier T, von Spiczak S, Eichler EE, Stephani U, Sander T, Helbig I. (2011). Absence seizures with intellectual disability as a phenotype of the 15q13.3
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Hormozdiari F, Hajirasouliha I, McPherson A, Eichler EE, Sahinalp SC. (2011). Simultaneous structural variation discovery among multiple paired-end sequenced genomes. Genome Res Dec;21(12):2203-12.

Sivakumaran TA, Igo RP Jr, Kidd JM, Itsara A, Kopplin LJ, Chen W, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, Chew EY, Ramprasad VL, Tay WT, Mitchell P, Seielstad M, Stambolian DE, Edwards AO, Lee KE, Leontiev DV, Jun G, Wang Y, Tian L, Qiu F, Henning AK, LaFramboise T, Sen P, Aarthi M, George R, Raman R, Das MK, Vijaya L, Kumaramanickavel G, Wong TY, Swaroop A, Abecasis GR, Klein R, Klein BE, Nickerson DA, Eichler EE, Iyengar SK. (2011). A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. PLoS One 6(10):e25598.

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Girirajan S, Campbell CD, Eichler EE. (2011). Human copy number variation and complex genetic disease. Annu Rev Genet 45:203-26.

Nicholas TJ, Baker C, Eichler EE, Akey JM. (2011). A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog. BMC Genomics Aug 16;12(1):414.

Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE. (2011). A copy number variation morbidity map of developmental delay. Nat Genet Aug 14;43(9):838-46. (CNV calls as submitted to dbVar: Controls)

Gazave E, Darre F, Morcillo-Suarez C, Petit-Marty N, Carreno A, Marigorta UM, Ryder OA, Blancher A, Rocchi M, Bosch E, Baker C, Marques-Bonet T, Eichler EE, Navarro A. (2011). Copy number variation analysis in the great apes reveals species-specific patterns of structural variation. Genome Res Oct;21(10):1626-39.