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.

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

- Groeneweg, Stefan, van Geest, Ferdy S., Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castellotti, Barbara, Castiglioni, Claudia, Chatterjee, Krishna, de Coo, Irenaeus F. M., Coutant, Régis, Craiu, Dana, Abaci, Ayhan, Crock, Patricia, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Alcantud, Alberto, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halász, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Ambegaonkar, Gautem P., Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenço, CM, Lunsing, RJ, Lyons, G, Armour, Christine M., Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Müller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Bakhtiani, Priyanka, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, Barca, Diana, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, Gopinath M., Tonduti, D, Turan, S, den Uil, CA, Vanderniet, Joel, van der Walt, A, Wémeau, JL, Bertini, Enrico S., Wierzba, J, de Wit, MCY, Wolf, NI, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, Visser, WE, van Beynum, Ingrid M.