Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

Autor: Dias, Kerith-Rae, Shrestha, Rupendra, Schofield, Deborah, Evans, Carey-Anne, O’Heir, Emily, Zhu, Ying, Zhang, Futao, Standen, Krystle, Weisburd, Ben, Stenton, Sarah L., Sanchis-Juan, Alba, Brand, Harrison, Talkowski, Michael E., Ma, Alan, Ghedia, Sondy, Wilson, Meredith, Sandaradura, Sarah A., Smith, Janine, Kamien, Benjamin, Turner, Anne, Bakshi, Madhura, Adès, Lesley C., Mowat, David, Regan, Matthew, McGillivray, George, Savarirayan, Ravi, White, Susan M., Tan, Tiong Yang, Stark, Zornitza, Brown, Natasha J., Pérez-Jurado, Luis A., Krzesinski, Emma, Hunter, Matthew F., Akesson, Lauren, Fennell, Andrew Paul, Yeung, Alison, Boughtwood, Tiffany, Ewans, Lisa J., Kerkhof, Jennifer, Lucas, Christopher, Carey, Louise, French, Hugh, Rapadas, Melissa, Stevanovski, Igor, Deveson, Ira W., Cliffe, Corrina, Elakis, George, Kirk, Edwin P., Dudding-Byth, Tracy, Fletcher, Janice, Walsh, Rebecca, Corbett, Mark A., Kroes, Thessa, Gecz, Jozef, Meldrum, Cliff, Cliffe, Simon, Wall, Meg, Lunke, Sebastian, North, Kathryn, Amor, David J., Field, Michael, Sadikovic, Bekim, Buckley, Michael F., O’Donnell-Luria, Anne, Roscioli, Tony

Publikováno v: In Genetics in Medicine May 2024 26(5)

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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Autor: Kayumi, Sayaka, Pérez-Jurado, Luis A., Palomares, María, Rangu, Sneha, Sheppard, Sarah E., Chung, Wendy K., Kruer, Michael C., Kharbanda, Mira, Amor, David J., McGillivray, George, Cohen, Julie S., García-Miñaúr, Sixto, van Eyk, Clare L., Harper, Kelly, Jolly, Lachlan A., Webber, Dani L., Barnett, Christopher P., Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A., Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R., Bhoj, Elizabeth J., Li, Dong, Ortiz-Gonzalez, Xilma R., Keena, Beth, Zackai, Elaine H., Goldberg, Ethan M., Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L., Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E., Stegmann, Alexander P.A., Sinnema, Margje, Stevens, Servi C.J., Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W., Procopio, Rebecca A., Millan, Francisca, Morrow, Michelle M., Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J., Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H., Gecz, Jozef, Corbett, Mark A.

Publikováno v: In Genetics in Medicine November 2022 24(11):2351-2366

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Autor: Schlüter, Agatha, Rodriguez-Palmero, Agustí, Cáceres, Alejandro, Nascimento, Andrés, García-Cazorla, Àngels, Cueto-González, Anna, Marcé-Grau, Anna, Nel.lo, Anna Ruiz, Martínez-Monseny, Antonio, Sànchez, Aurora, García, Belén, Pérez-Dueñas, Belén, Gel, Bernat, Fusté, Berta, Hernández-Ferrer, Carles, Casasnovas, Carlos, Ortez, Carlos, Arjona, César, Hernando-Davalillo, Cristina, de Benito, Daniel Natera, Amador, Daniel Picó, Gómez-Andrés, David, Yubero, Dèlia, Pelegrí-Sisó, Dolors, Verdura, Edgard, García-Arumí, Elena, Castellanos, Elisabeth, Gabau, Elisabeth, Tobías, Ester, López-Grondona, Fermina, Cardellach, Francesc, Garcia-Garcia, Francesc Josep, Munell, Francina, Tort, Frederic, Aznar, Gemma, Olivé-Cirera, Gemma, Tell, Gemma, Muñoz-Pujol, Gerard, Paramonov, Ida, Blanco, Ignacio, Madrigal, Irene, Valenzuela, Irene, Gut, Ivo, Cusco, Ivon, Trotta, Jean-Rémi, Cruz, Jordi, Díaz-Manera, Jordi, Milisenda, José César, a<%2Fce%3Asup>+Grau%2C+Josep%22">M