An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

- Choufani, Sanaa, McNiven, Vanda, Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, Cytrynbaum, Cheryl, Dudding-Byth, Tracy, Piard, J, Brischoux-Boucher, E, Vitobello, A, Faivre, L, Bournez, M, Tran-Mau, F, Maystadt, I, Fernandez-Jaen, A, Alvarez, S, Jangjoo, Maryam, Garcia-Prieto, ID, Alkuraya, FS, Alsaif, HS, Rahbeeni, Z, El-Akouri, K, Al-Mureikhi, M, Spillmann, RC, Shashi, V, Sanchez-Lara, PA, Graham, JM, Adam, Margaret P., Roberts, A, Chorin, O, Evrony, GD, Kraatari-Tiri, M, Dudding-Byth, T, Richardson, A, Hunt, D, Hamilton, L, Dyack, S, Mendelsohn, BA, Bjornsson, Hans T., Rodriguez, N, Sanchez-Martinez, R, Tenorio-Castano, J, Nevado, J, Lapunzina, P, Tirado, P, Rodrigues, M-TCA, Quteineh, L, Innes, AM, Kline, AD, Harris, Jacqueline, Au, PYB, Weksberg, R, Dyment, David A., Graham, Gail E., Nezarati, Marjan M.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

- Crow, Yanick J., Marshall, Heather, Bolduc, Francois, Boddaert, Natalie, Buckard, Johannes, Burnett, Heather, Calvert, Sophie, Caumes, Roseline, Ng, Andy Cheuk-Him, Chiang, Diana, Clifford, David B., Cordelli, Duccio M., Rice, Gillian I., Goel, Himanshu, Demic, N, Desguerre, I, De Waele, L, Di Fonzo, A, Dunham, SR, Dyack, S, Elmslie, F, Ferrand, M, Fisher, G, Seabra, Luis, Karimiani, EG, Ghoumid, J, Gibbon, F, Goel, H, Hilmarsen, HT, Hughes, I, Jacob, A, Jones, EA, Kumar, R, Leventer, RJ, Jenkinson, Emma M., MacDonald, S, Maroofian, R, Mehta, SG, Metz, I, Monfrini, E, Neumann, D, Noetzel, M, O'Driscoll, M, Õunap, K, Panzer, A, Baranano, Kristin, Parikh, S, Prabhakar, P, Ramond, F, Sandford, R, Saneto, R, Soh, C, Stutterd, CA, Subramanian, GM, Talbot, K, Thomas, RH, Battini, Roberta, Toro, C, Touraine, R, Wakeling, E, Wassmer, E, Whitney, A, Livingston, JH, O'Keefe, RT, Badrock, AP, Berger, Andrea, Blair, Edward, Blauwblomme, Thomas