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GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group. Strehlow V, et al. Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. Brain. 2019. PMID: 30544257 Free PMC article.
Central 22q11.2 deletions.
Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM. Rump P, et al. Am J Med Genet A. 2014 Nov;164A(11):2707-23. doi: 10.1002/ajmg.a.36711. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25123976
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
Witteveen JS, Willemsen MH, Dombroski TC, van Bakel NH, Nillesen WM, van Hulten JA, Jansen EJ, Verkaik D, Veenstra-Knol HE, van Ravenswaaij-Arts CM, Wassink-Ruiter JS, Vincent M, David A, Le Caignec C, Schieving J, Gilissen C, Foulds N, Rump P, Strom T, Cremer K, Zink AM, Engels H, de Munnik SA, Visser JE, Brunner HG, Martens GJ, Pfundt R, Kleefstra T, Kolk SM. Witteveen JS, et al. Nat Genet. 2016 Aug;48(8):877-87. doi: 10.1038/ng.3619. Epub 2016 Jul 11. Nat Genet. 2016. PMID: 27399968
Copy number variation in a hospital-based cohort of children with epilepsy.
Vlaskamp DRM, Callenbach PMC, Rump P, Giannini LAA, Dijkhuizen T, Brouwer OF, van Ravenswaaij-Arts CMA. Vlaskamp DRM, et al. Epilepsia Open. 2017 May 8;2(2):244-254. doi: 10.1002/epi4.12057. eCollection 2017 Jun. Epilepsia Open. 2017. PMID: 29588953 Free PMC article.
PRRT2-related phenotypes in patients with a 16p11.2 deletion.
Vlaskamp DRM, Callenbach PMC, Rump P, Giannini LAA, Brilstra EH, Dijkhuizen T, Vos YJ, van der Kevie-Kersemaekers AF, Knijnenburg J, de Leeuw N, van Minkelen R, Ruivenkamp CAL, Stegmann APA, Brouwer OF, van Ravenswaaij-Arts CMA. Vlaskamp DRM, et al. Eur J Med Genet. 2019 Apr;62(4):265-269. doi: 10.1016/j.ejmg.2018.08.002. Epub 2018 Aug 17. Eur J Med Genet. 2019. PMID: 30125676 Free article.
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.
The cardiac phenotype in patients with a CHD7 mutation.
Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L. Corsten-Janssen N, et al. Circ Cardiovasc Genet. 2013 Jun;6(3):248-54. doi: 10.1161/CIRCGENETICS.113.000054. Circ Cardiovasc Genet. 2013. PMID: 23677905
158 results