De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Reijnders, M.R.F.; Miller, K.A.; Alvi, M.; Goos, J.A.C.; Lees, M.M.; Burca, A. de; ... ; Deciphering Dev Disorders Study (2018)

Article / Letter to editor

• All authors: Reijnders, M.R.F.; Miller, K.A.; Alvi, M.; Goos, J.A.C.; Lees, M.M.; Burca, A. de; Henderson, A.; Kraus, A.; Mikat, B.; Vries, B.B.A. de; Isidor, B.; Kerr, B.; Marcelis, C.; Schluth-Bolard, C.; Deshpande, C.; Ruivenkamp, C.A.L.; Wieczorek, D.; Baralle, D.; Blair, E.M.; Engels, H.; Ludecke, H.J.; Eason, J.; Santen, G.W.E.; Clayton-Smith, J.; Chandler, K.; Tatton-Brown, K.; Payne, K.; Helbig, K.; Radtke, K.; Nugent, K.M.; Cremer, K.; Strom, T.M.; Bird, L.M.; Sinnema, M.; Bitner-Glindzicz, M.; Dooren, M.F. van; Alders, M.; Koopmans, M.; Brick, L.; Kozenko, M.; Harline, M.L.; Klaassens, M.; Steinraths, M.; Cooper, N.S.; Edery, P.; Yap, P.; Terhal, P.A.; Spek, P.J. van der; Lakeman, P.; Taylor, R.L.; Littlejohn, R.O.; Pfundt, R.; Mercimek-Andrews, S.; Stegmann, A.P.A.; Kant, S.G.; McLean, S.; Joss, S.; Swagemakers, S.M.A.; Douzgou, S.; Wall, S.A.; Kury, S.; Calpena, E.; Koelling, N.; McGowan, S.J.; Twigg, S.R.F.; Mathijssen, I.M.J.; Nellaker, C.; Brunner, H.G.; Wilkie, A.O.M.; Deciphering Dev Disorders Study
• Date: 2018-06-07
• Journal: American Journal of Human Genetics
• Volume: 102
• Issue: 6
• Pages: 1195 - 1203
• DOI: doi:10.1016/j.ajhg.2018.04.014
• Link: https://www.sciencedirect.com/science/article/pii/S0002929718301617?via=...