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Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Campbell IM, et al. Among authors: robberecht c. Am J Hum Genet. 2014 Aug 7;95(2):173-82. doi: 10.1016/j.ajhg.2014.07.003. Epub 2014 Jul 31. Am J Hum Genet. 2014. PMID: 25087610 Free PMC article.
Somatic genomic variations in early human prenatal development.
Robberecht C, Vanneste E, Pexsters A, D'Hooghe T, Voet T, Vermeesch JR. Robberecht C, et al. Curr Genomics. 2010 Sep;11(6):397-401. doi: 10.2174/138920210793175967. Curr Genomics. 2010. PMID: 21358983 Free PMC article.
Genome-Wide Copy Number Variation Scan Identifies Complement Component C4 as Novel Susceptibility Gene for Crohn's Disease.
Cleynen I, Konings P, Robberecht C, Laukens D, Amininejad L, Théâtre E, Machiels K, Arijs I, Rutgeerts P, Louis E, Franchimont D, De Vos M, Van Steen K, Georges M, Moreau Y, Vermeesch J, Vermeire S. Cleynen I, et al. Among authors: robberecht c. Inflamm Bowel Dis. 2016 Mar;22(3):505-15. doi: 10.1097/MIB.0000000000000623. Inflamm Bowel Dis. 2016. PMID: 26595553
Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations.
Bettens K, Vermeulen S, Van Cauwenberghe C, Heeman B, Asselbergh B, Robberecht C, Engelborghs S, Vandenbulcke M, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, Sleegers K. Bettens K, et al. Among authors: robberecht c. Mol Neurodegener. 2015 Jul 16;10:30. doi: 10.1186/s13024-015-0024-9. Mol Neurodegener. 2015. PMID: 26179372 Free PMC article.
17 results