2018
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.
Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26.
PMID: 30057031
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.
van den Ameele J, Jedlickova I, Pristoupilova A, Sieben A, Van Mossevelde S, Ceuterick-de Groote C, Hůlková H, Matej R, Meurs A, Van Broeckhoven C, Berkovic SF, Santens P, Kmoch S, Dermaut B.
Neurology. 2018 Feb 20;90(8):e658-e663. doi: 10.1212/WNL.0000000000004999. Epub 2018 Jan 19.
PMID: 29352102
Future perspectives of genome-scale sequencing.
Steyaert W, Callens S, Coucke P, Dermaut B, Hemelsoet D, Terryn W, Poppe B.
Acta Clin Belg. 2018 Feb;73(1):7-10. doi: 10.1080/17843286.2017.1413809.
PMID: 29384039
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.
Verheijen J, van der Zee J, Gijselinck I, Van den Bossche T, Dillen L, Heeman B, Gómez-Tortosa E, Lladó A, Sanchez-Valle R, Graff C, Pastor P, Pastor MA, Benussi L, Ghidoni R, Binetti G, Clarimon J, de Mendonça A, Gelpi E, Tsolaki M, Diehl-Schmid J, Nacmias B, Almeida MR, Borroni B, Matej R, Ruiz A, Engelborghs S, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K; BELNEU Consortium; EU EOD Consortium.
Neurobiol Aging. 2018 Feb;62:245.e1-245.e7. doi: 10.1016/j.neurobiolaging.2017.10.012. Epub 2017 Oct 25.
PMID: 29146049