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

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

- Sy, Mary R., Chauhan, Jaynee, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo-Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Veronique, Vieville, Gaelle, Donaldson, Alan, Prescott, Katrina, Beneteau, C, Ghoumid, J, Van den Bogaert, K, Boogaerts, A, Boudry, E, Vanlerberghe, C, Petit, F, Bernardini, L, Torres, B, Mattina, T, Imam, Aliza, Carli, D, Mandrile, G, Pinelli, M, Brunetti-Pierri, N, Neas, K, Beddow, R, Torring, PM, Faletra, F, Spedicati, B, Gasparini, P, Kraus, Alison, Mussa, A, Ferrero, GB, Lampe, A, Lam, W, Bi, W, Bacino, CA, Kuwahara, A, Bush, JO, Zhao, X, Luna, PN, Beleza, Ana, Shaw, CA, Rosenfeld, JA, Scott, DA, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep