Marta Codina-Solà

8PUBLICATIONS
127CO-AUTHORS
Structural properties of condensed matterNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Gene mappingGene expression (incl. microarray and other genome-wide approaches)
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Publications (8)

|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 RNU2-2P 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 PSMC5 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

|Sep 23, 2022
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.

John N Milligan, Laura Blasco-Pérez, Mar Costa-Roger

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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