Functional and Clinical Studies Reveal Pathophysiological Complexity of CLCN4-Related Neurodevelopmental Condition

- Palmer, Elizabeth E., Pusch, Michael, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Picollo, Alessandra, Rajagopalan, Sulekha, Nunn, K, Arpin, S, Raynaud, M, Motter, CS, Ward-Melver, C, Janssens, K, Meuwissen, M, Beysen, D, Dikow, N, Forwood, Caitlin, Grimmel, M, Haack, TB, Clement, E, McTague, A, Hunt, D, Townshend, S, Ward, M, Richards, LJ, Simons, C, Costain, G, Nguyen, Matthew H., Dupuis, L, Mendoza-Londono, R, Dudding-Byth, Tracy, Boyle, J, Saunders, C, Fleming, E, El Chehadeh, S, Spitz, MA, Piton, A, Gerard, B, Suckow, Vanessa, Abi Warde, MT, Rea, G, McKenna, C, Douzgou, S, Banka, S, Akman, C, Bain, JM, Sands, TT, Wilson, GN, Silvertooth, EJ, Gibbons, Jessica, Miller, L, Lederer, D, Sachdev, R, Macintosh, R, Monestier, O, Karadurmus, D, Collins, F, Carter, M, Rohena, L, Willemsen, MH, Hoff, Alva, Ockeloen, CW, Pfundt, R, Kroft, SD, Field, M, Laranjeira, FER, Fortuna, AM, Soares, AR, Michaud, V, Naudion, S, Golla, S, Sigfrid, Lisa, Weaver, DD, Bird, LM, Friedman, J, Clowes, V, Joss, S, Pölsler, L, Campeau, PM, Blazo, M, Bijlsma, EK, Rosenfeld, JA, Megarbane, Andre, Beetz, C, Powis, Z, McWalter, K, Brandt, T, Torti, E, Mathot, M, Mohammad, SS, Armstrong, R, Kalscheuer, VM

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.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

- van der Sluijs, Pleuntje J., Jansen, Sandra, Bijlsma, Emilia K., Eichler, E, Pfundt, R, de Vries, BBA, Clayton-Smith, J, Santen, GWE, Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, Vergano, Samantha A., De Rademaeker, Marjan, Destree, A, Dudding-Byth, Tracy, Earl, R, Elcioglu, N, Elias, ER, Fagerberg, C, Gardham, A, Gener, B, Gerkes, EH, Adachi-Fukuda, Miho, Grasshoff, U, van Haeringen, A, Heitink, KR, Herkert, JC, den Hollander, NS, Horn, D, Hunt, D, Kant, SG, Kato, M, Kayserili, H, Alanay, Yasemin, Kersseboom, R, Kilic, E, Krajewska-Walasek, M, Lammers, K, Laulund, LW, Lederer, D, Lees, M, Lopez-Gonzalez, V, Maas, S, Mancini, GMS, AlKindy, Adila, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M, McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler, JB, Baban, Anwar, Netzer, C, Ockeloen, CW, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, SNM, Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, SP, Bayat, Allan, Roifman, M, Rooryck, C, Ropers, FG, Rosello, M, Ruivenkamp, CAL, Sagiroglu, MS, Sallevelt, SCEH, Sanchis Calvo, A, Simsek-Kiper, PO, Soares, G, Beck-Woedl, Stefanie, Solaeche, L, Sonmez, FM, Splitt, M, Steenbeek, D, Stegmann, APA, Stumpel, CTRM, Tanabe, S, Uctepe, E, Utine, GE, Veenstra-Knol, HE, Berry, Katherine, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, AT, Wheeler, P, Wilson, GN, Wilson, LC, Wollnik, B, Kosho, T, Wieczorek, D