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A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, Alkan C, Campbell CD, Vives L, Malig M, Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA, Wilson RK, Schwartz DC, Eichler EE. Antonacci F, et al. Among authors: ballif bc. Nat Genet. 2010 Sep;42(9):745-50. doi: 10.1038/ng.643. Epub 2010 Aug 22. Nat Genet. 2010. PMID: 20729854 Free PMC article.
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. Girirajan S, et al. Among authors: ballif bc. Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534. Epub 2010 Feb 14. Nat Genet. 2010. PMID: 20154674 Free PMC article.
A copy number variation morbidity map of developmental delay.
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. Cooper GM, et al. Among authors: ballif bc. Nat Genet. 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. Nat Genet. 2011. PMID: 21841781 Free PMC article.
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM Jr, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG. Ballif BC, et al. Nat Genet. 2007 Sep;39(9):1071-3. doi: 10.1038/ng2107. Epub 2007 Aug 19. Nat Genet. 2007. PMID: 17704777
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD. Bachmann-Gagescu R, et al. Among authors: ballif bc. Genet Med. 2010 Oct;12(10):641-7. doi: 10.1097/GIM.0b013e3181ef4286. Genet Med. 2010. PMID: 20808231 Free article.
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