Rosenfeld JA, Coppinger J, Bejjani BA, Girirajan S, Eichler EE, Shaffer LG, Ballif BC. (2010). Speech delays and behavioral problems are the predominant features in individuals with
developmental delays and 16p11.2 microdeletions and microduplications. Journal of Neurodevelopmental Disorders Mar;2(1):26-38.
Blog Archives
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, Gecz J, Delisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. (2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet Mar;42(3):203-9.
Eyebrow anomalies as a diagnostic sign of genomic disorders
Silengo M, Belligni E, Molinatto C, Baldassare G, Biamino E, Chiesa N, Zuffardi O, Girirajan S, Eichler EE, Ferrero GB. (2010). Eyebrow anomalies as a diagnostic sign of genomic disorders. Clin Genet Jan;77(1):28-31.
SPANX Gene Variation in Fertile and Infertile Males
Hansen S, Eichler EE, Fullerton SM, Carrell D. (2010). SPANX Gene Variation in Fertile and Infertile Males. Syst Biol Reprod Med Feb;55:18-26.
Targeted interrogation of copy number variation using SCIMMkit
Zerr T, Cooper GM, Eichler EE, Nickerson DA. (2010). Targeted interrogation of copy number variation using SCIMMkit. Bioinformatics Jan 1;26(1):120-2.
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathicgeneralized epilepsies
de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, KleefuB-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Kasteleijn-Nolst Trenite D, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Moller RS, Hjalgrim H, De Jonghe P, Suls A, Ruckert IM, Wichmann HE, Franke A, Schreiber S, Nurnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T. (2010). Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain Jan;133(Pt 1):23-32. Epub 2009 Oct 20.
