Marta Codina-Solà
8PUBLICATIONS
127CO-AUTHORS
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Publications (8)
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|Jan 14, 2026
Type 0 Spinal Muscular Atrophy Detected by Prenatal Exome Sequencing: Towards a Recognizable Fetal Phenotype.M Codina-Solà, M Costa-Roger, A Abulí
|Oct 10, 2024
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.Neftalí Vazquez, Chanjae Lee, Irene Valenzuela
|Sep 16, 2024
Mutations in the U2 snRNA gene <i>RNU2-2P</i> cause a severe neurodevelopmental disorder with prominent epilepsy.Daniel Greene, Koenraad De Wispelaere, Jon Lees
|Jul 23, 2024
A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction.Lorraine Glennie, Marta Codina Solà, Mar Xunclà
|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies.Sébastien Küry, Janelle E Stanton, Geeske van Woerden
|Jan 05, 2023
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.Anna Abulí, Mar Costa-Roger, Marta Codina-Solà
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Frequent Collaborators
4 joint publications
Eduardo F Tizzano
3 joint publications
Mar Costa-Roger
3 joint publications
Irene Valenzuela
3 joint publications
Ivon Cusco
2 joint publications
Laura Blasco-Pérez
2 joint publications
Elena Garcia-Arumí
1 joint publications
N Maiz
1 joint publications
Neftalí Vazquez
1 joint publications
Janos Demeter
1 joint publications
Diana Valverde
