Roser Urreizti Frexedas
Investigador
Research group
The researcher Roser Urreizti graduated in Biology in 2000 from the University of Barcelona (UB) and obtained a Doctorate degree in Genetics from the same university in 2007.
During the 2006-2007 academic year she worked as an associate professor at the Faculty of Medicine of the UB.
Since 2008, she is a CIBERER Post-Doc researcher mainly focused on the study of Rare Diseases, specially on rare neurodevelopmental syndromes.
Her main interest are the molecular and cellular consequences of MAGEL2 and TRAF7 syndromes and related conditions. She has strong background in functional studies. She is now working at the Metabolic Diseases Unit lead by Dr. Rafael Artuch, at Institut de Recerca Sant Joan de Déu · SJD Barcelona Children's Hospital and she is focused on WES analysis on ultrarare diseases and undiagnosed children.
Professional network profiles
Last Publications
- Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, MITOSPAIN Working Group, Martín MA, Montoya J and Artuch-Iriberri R The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call. GENES . 12(10): .
- Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Nascimento-Osorio A, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J and Pandey UB Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. NATURE COMMUNICATIONS . 12(1): 2558-2558.
- Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, LUIS GONZÁLEZ GUTIÉRREZ-SOLANA, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch-Iriberri R, Alfons Macaya and Pérez-Dueñas B Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. JOURNAL OF INHERITED METABOLIC DISEASE . 44(2): 401-414.