Mar Costa-Roger

5PUBLICATIONS
20CO-AUTHORS
Gene mappingOther European languagesGene expression (incl. microarray and other genome-wide approaches)Medical molecular engineering of nucleic acids and proteinsGene and molecular therapy
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (5)

|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

|Nov 29, 2022
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.

Marta Codina-Solà, Laura Trujillano, Anna Abulí

|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

|Aug 12, 2022
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado

|Aug 27, 2021
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.

Mar Costa-Roger, Laura Blasco-Pérez, Ivon Cuscó

Pageof 1

Frequent Collaborators

3 joint publications

Laura Blasco-Pérez

3 joint publications

Marta Codina-Solà

2 joint publications

Jordi Leno-Colorado

2 joint publications

Ivon Cuscó