An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
- Creator: 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.
- Resource Type: journal article
- Date: 2022
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
- Creator: Groeneweg, Stefan , van Geest, Ferdy S. , Brunetti-Pierri, Nicola , Bugiani, Marianna , Cappa, Marco , Cappuccio, Gerarda , Castellotti, Barbara , Castiglioni, Claudia , Chatterjee, Krishna , de Coo, Irenaeus F. M. , Coutant, Régis , Craiu, Dana , Abaci, Ayhan , Crock, Patricia , DeGoede, C , Demir, K , Dica, A , Dimitri, P , Dolcetta-Capuzzo, A , Dremmen, MHG , Dubey, R , Enderli, A , Fairchild, J , Alcantud, Alberto , Gallichan, J , George, B , Gevers, EF , Hackenberg, A , Halász, Z , Heinrich, B , Huynh, T , Klosowska, A , van der Knaap, MS , van der Knoop, MM , Ambegaonkar, Gautem P. , Konrad, D , Koolen, DA , Krude, H , Lawson-Yuen, A , Lebl, J , Linder-Lucht, M , Lorea, CF , Lourenço, CM , Lunsing, RJ , Lyons, G , Armour, Christine M. , Malikova, J , Mancilla, EE , McGowan, A , Mericq, V , Lora, FM , Moran, C , Müller, KE , Oliver-Petit, I , Paone, L , Paul, PG , Bakhtiani, Priyanka , Polak, M , Porta, F , Poswar, FO , Reinauer, C , Rozenkova, K , Menevse, TS , Simm, P , Simon, A , Singh, Y , Spada, M , Barca, Diana , van der Spek, J , Stals, MAM , Stoupa, A , Subramanian, Gopinath M. , Tonduti, D , Turan, S , den Uil, CA , Vanderniet, Joel , van der Walt, A , Wémeau, JL , Bertini, Enrico S. , Wierzba, J , de Wit, MCY , Wolf, NI , Wurm, M , Zibordi, F , Zung, A , Zwaveling-Soonawala, N , Visser, WE , van Beynum, Ingrid M.
- Resource Type: journal article
- Date: 2020