Elena Garcia-Arumí (Elena García-Arumí)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 6

Top Topics

Stem Cell Transplantation

Top Venues

Journal of medical genetics

The Journal of clinical endocrinology and metabolism

International journal of molecular sciences

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

Publications

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)
María Clemente León, Patricia Cobo, Maria Antolin, Ariadna Campos-Martorell, Diego Yeste Fernández, Rosangela Tomasini, María Caimarí, Miriam Masas, Elena Garcia-Arumí, Mónica Fernández-Cancio, Noelia Baz-Redón, Núria Camats-Tarruella
Genetics and natural history of non-pancreatectomised patients with congenital hyperinsulinism due to variants in ABCC8. The Journal of clinical endocrinology and metabolism (2023)
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)
Javier Ramón, Ferran Vila-Julià, David Molina-Granada, Miguel Molina-Berenguer, Maria Jesús Melià, Elena Garcia-Arumí, Javier Torres-Torronteras, Yolanda Cámara, Ramon Ramon
Therapy Prospects for Mitochondrial DNA Maintenance Disorders. International journal of molecular sciences 22 (12) (2021)