Objects
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.. Cell Press; 2022. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline 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. Nature Publishing Group; 2024. Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.