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PreviewIssue DateTitleAuthor(s)
2020A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsyKolc, K.L.; Sadleir, L.G.; Depienne, C.; Marini, C.; Scheffer, I.E.; Møller, R.S.; Trivisano, M.; Specchio, N.; Pham, D.; Kumar, R.; Roberts, R.; Gecz, J.
2022The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental DisordersJolly, L.A.; Kumar, R.; Penzes, P.; Piper, M.; Gecz, J.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2004Partial androgen insensitivity syndrome and t(X;5): Are there upstream regulatory elements of the androgen receptor gene?Lower, K.; Kumar, R.; Woollatt, E.; Villard, L.; Gecz, J.; Sutherland, G.; Callen, D.
2014Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthHoman, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.
2016A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disabilityKumar, R.; Ha, T.; Pham, D.; Shaw, M.; Mangelsdorf, M.; Friend, K.L.; Hobson, L.; Turner, G.; Boyle, J.; Field, M.; Hackett, A.; Corbett, M.; Gecz, J.
2017Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)Pham, D.; Tan, C.; Homan, C.; Kolc, K.L.; Corbett, M.; McAninch, D.; Fox, A.; Thomas, P.; Kumar, R.; Gecz, J.
2024Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsyde Nys, R.; van Eyk, C.L.; Ritchie, T.; Møller, R.S.; Scheffer, I.E.; Marini, C.; Bhattacharjee, R.; Kumar, R.; Gecz, J.

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