Mar Costa-Roger

Publication Activity (10 Years)

Years Active: 2021-2022
Publications (10 Years): 5

Top Topics

Mitochondrial Dna

Peritoneal Dialysis

Prognostic Factors

Top Venues

International journal of molecular sciences

European journal of human genetics : EJHG

Journal of medical genetics

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

Publications

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)
Marta Codina-Solà, Laura Trujillano, Anna Abulí, Eulàlia Rovira-Moreno, Patricia Muñoz-Cabello, Berta Campos, Paula Fernández-Álvarez, Dolors Palau, Estela Carrasco, Maria Irene Valenzuela Palafoll, Anna Maria Cueto-González, Amaia Lasa-Aranzasti, Javier Limeres Freire, Jordi Leno-Colorado, Mar Costa-Roger, Alejandro Moles-Fernández, Judith Balmaña, Orland Díez, Ivon Cuscó, Elena Garcia-Arumí, Eduardo Fidel Tizzano
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history. European journal of human genetics : EJHG (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)
Mar Costa-Roger, Laura Blasco-Pérez, Ivon Cuscó, Eduardo F Tizzano
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy. International journal of molecular sciences 22 (16) (2021)