Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. (2009). Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet Feb;84(2):148-61.
Blog Archives
Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in Rhesus Macaques (Macaca mulatta)
Degenhardt JD, de Candia P, Chabot A, Schwartz S, Henderson L, Ling B, Hunter M, Jiang Z, Palermo RE, Katze M, Eichler EE, Ventura M, Rogers J, Marx P, Gilad Y, Bustamante CD. (2009). Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in Rhesus Macaques (Macaca mulatta). PLoS Genet Jan;5(1):e1000346.
Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart HH, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR. (2009). Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet Apr;46(4):223-32. Epub 2008 Jun 11.
Duplication within the SEPT9 gene associated with a founder effect in North American families with Hereditary Neuralgic Amyotrophy
Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, Eichler EE, Petty EM, Peterson EA, Knutzen DM, Barnett K, Farlow MR, Caress J, Parry GJ, Quan D, Gardner KL, Hong M, Simmons Z, Bird TD, Chance PF, Hannibal MC. (2009). Duplication within the SEPT9 gene associated with a founder effect in North American families with Hereditary Neuralgic Amyotrophy. Hum Mol Genet Apr 1;18(7):1200-8.
The genomic architecture of segmental duplications and associated copy number variants in dogs
Nicholas TJ, Cheng Z, Ventura M, Mealey K, Eichler EE, Akey JM. (2009). The genomic architecture of segmental duplications and associated copy number variants in dogs. Genome Res Mar;19(3):491-9.
15q13.3 microdeletions increase risk of idiopathic generalizedepilepsy
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Moller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nurnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T. (2009). 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet Feb;41(2):160-2.
Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites
Girirajan S, Chen L, Graves T, Marques T, Ventura M, Fronick C, Fulton L, Rocchi M, Fulton RS, Wilson RK, Mardis ER, Eichler EE. (2009). Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites. Genome Res Feb;19(2):178-90. Epub 2008 Nov 24.
