Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

- Meester, Josephina A. N., Hebert, Anne, Blankensteijn, Jan D., Brennan, Paul, Bucks, Stephanie A., Campbell, Ian M., Conrad, Solène, Curtis, Stephanie L., Dasouki, Majed, Dent, Carolyn L., Eden, James, Goel, Himanshu, Bastiaansen, Maaike, Oakley, Stephen P., Houweling, AC, Isidor, B, Jackson, N, Koopman, P, Korpioja, A, Kraatari-Tiri, M, Kuulavainen, L, Lee, K, Low, KJ, Rabaut, Laura, Lu, AC, McManus, ML, Oakley, SP, Oliver, J, Organ, NM, Overwater, E, Revencu, N, Trainer, AH, Trivedi, B, Turner, CLS, Bastianen, Jarl, Whittington, R, Zankl, A, Zentner, D, Van Laer, L, Verstraeten, A, Loeys, BL, Boeckx, Nele, Ashcroft, Kathryn, Atwal, Paldeep S., Benichou, Antoine, Billon, Clarisse

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.