Functional and Clinical Studies Reveal Pathophysiological Complexity of CLCN4-Related Neurodevelopmental Condition
- Creator: 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
- Resource Type: journal article
- Date: 2023
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant
- Creator: Forwood, Caitlin , Ashton, Katie , Katf, Hala , Riveros, Carlos , Hsieh, Tzung-Chien , Krawitz, Peter , Robinson, Peter N. , Dudding-Byth, Tracy , Sadikovic, Bekim , Pinner, Jason , Buckley, Michael F. , Roscioli, Tony , Zhu, Ying , Zhang, Futao , Dias, Kerith-Rae , Standen, Krystle , Evans, Carey-Anne , Carey, Louise , Cardamone, Michael , Shalhoub, Carolyn
- Resource Type: journal article
- Date: 2023