A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

por Bastard, Paul, Hsiao, Kuang-Chih, Zhang, Qian, Choin, Jeremy, Best, Emma, Chen, Jie, Gervais, Adrian, Bizien, Lucy, Materna, Marie, Harmant, Christine, Roux, Maguelonne, Hawley, Nicola L., Weeks, Daniel E., McGarvey, Stephen T., Sandoval, Karla, Barberena-Jonas, Carmina, Quinto-Cortés, Consuelo D., Hagelberg, Erika, Mentzer, Alexander J., Robson, Kathryn, Coulibaly, Boubacar, Seeleuthner, Yoann, Bigio, Benedetta, Li, Zhi, Uzé, Gilles, Pellegrini, Sandra, Lorenzo, Lazaro, Sbihi, Zineb, Latour, Sylvain, Besnard, Marianne, Adam de Beaumais, Tiphaine, Jacqz Aigrain, Evelyne, Béziat, Vivien, Deka, Ranjan, Esera Tulifau, Litara, Viali, Satupa‘itea, Reupena, Muagututi‘a Sefuiva, Naseri, Take, McNaughton, Peter, Sarkozy, Vanessa, Peake, Jane, Blincoe, Annaliesse, Primhak, Sarah, Stables, Simon, Gibson, Kate, Woon, See-Tarn, Drake, Kylie Marie, Hill, Adrian V.S., Chan, Cheng-Yee, King, Richard, Ameratunga, Rohan, Teiti, Iotefa, Aubry, Maite, Cao-Lormeau, Van-Mai, Tangye, Stuart G., Zhang, Shen-Ying, Jouanguy, Emmanuelle, Gray, Paul, Abel, Laurent, Moreno-Estrada, Andrés, Minster, Ryan L., Quintana-Murci, Lluis, Wood, Andrew C., Casanova, Jean-Laurent
Publicado 2022

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

por Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R
Publicado 2014