Marta Codina Solà (Marta Codina-Solà)

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 8

Top Topics

Intellectual Disability

Top Venues

medRxiv : the preprint server for health sciences

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Daniel Greene, Koenraad De Wispelaere, Jon Lees, Andrea Katrinecz, Sonia Pascoal, Emma Hales, Marta Codina Solà, Maria Irene Valenzuela Palafoll, Eduardo F Tizzano, Giles Atton, Deirdre Donnelly, Nicola Foulds, Joanna Jarvis, Shane McKee, Michael O'Donoghue, Mohnish Suri, Pradeep Vasudevan, Kathy Stirrups, Natasha P Morgan, Kathleen Freson, Andrew D Mumford, Ernest Turro
Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy. medRxiv : the preprint server for health sciences (2024)
Lorraine Glennie, Marta Codina Solà, Mar Xunclà, Gloria Aparicio Español, Elena Garcia-Arumí, Eduardo Fidel Tizzano, Nicola T Wood, Thomas J Macartney, Amaia Lasa-Aranzasti, Gopal P Sapkota
A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction. Open biology 14 (7) (2024)
Lorraine Glennie, Marta Codina Solà, Mar Xunclà, Gloria Aparicio Español, Elena Garcia-Arumí, Eduardo Fidel Tizzano, Nicola T Wood, Thomas J Macartney, Amaia Lasa-Aranzasti, Gopal P Sapkota
A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction. Open biology 14 (7) (2024)
Lorraine Glennie, Marta Codina Solà, Mar Xunclà, Gloria Aparicio Español, Elena Garcia-Arumí, Eduardo Fidel Tizzano, Nicola T Wood, Thomas J Macartney, Amaia Lasa-Aranzasti, Gopal P Sapkota
A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction. Open biology 14 (7) (2024)
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Tzung-Chien Hsieh, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas Johannes Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel, Sophie Möller, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Ingrid Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill Anne Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, C M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V Fabie, Raphael A Bernier, Tychele N Turner, Siddharth Srivastava, Kira A Dies, Lindsay Swanson, Carrie Costin, Rebekah K Jobling, John G Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B Beck, May Christine V Malicdan, David R Adams, Lynne Wolfe, Rebecca D Ganetzky, Colleen Muraresku, Davit Babikyan, Zdenek Sedlacek, Miroslava Hancarova, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Genevieve, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Hussain Sabir, Derek Lim, Mark Hamilton, Lisa Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna Maria Cueto-González, Eduardo Fidel Tizzano, David Gomez Andres, Marta Codina Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah Jurgensmeyer, Anne M McRae, Mathieu Kent Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Amélie Bosc-Rosati, Julien Marcoux, Marie-Pierre Bousquet, Jeremie Poschmann, Frederic Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Arnaud Droit, Ype Elgersma, Andreas Martin Grabrucker, Francois V Bolduc, Stephane Bezieau, Frédéric Ebstein, Elke Krüger
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv : the preprint server for health sciences (2024)
Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José María Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cusco, Eduardo F Tizzano
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 . International journal of molecular sciences 23 (15) (2022)
John N Milligan, Laura Blasco-Pérez, Mar Costa-Roger, Marta Codina Solà, Eduardo F Tizzano
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows. Genes 13 (9) (2022)
Anna Abulí, Mar Costa-Roger, Marta Codina Solà, Maria Irene Valenzuela Palafoll, Jordi Leno-Colorado, Eulàlia Rovira-Moreno, Anna Maria Cueto-González, Paula Fernandez-Alvarez, Elena Garcia-Arumí, Ivon Cusco, Eduardo F Tizzano
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples. Journal of medical genetics (2022)