Roser Urreizti Frexedas

Roser Urreizti Frexedas

Investigador

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

  • Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny T, Casas-Alba D, Grinberg-Vaisman DR, Balcells S, Serrano M, Rabionet-Janssen R, Martin MA and Urreizti R Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review. PEDIATRIC NEUROLOGY . 155: 8-17.
  • Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Pandey UB, Santos-Ocaña C and Artuch-Iriberri R Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment EUROPEAN JOURNAL OF HUMAN GENETICS . : .
  • Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnyte B, Calvo PL, Crushell E, Dalgiç B, Das AM, Dezsofi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaçlioglu CT, Knoppke B, Kohl M, Kölbel H, Kölker S, Konstantopoulou V, Krylova T, Kuloglu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McLean P, McLin V, Mention K, Müller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petkovic Ramadža D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel GF, Wagner M, van der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C and Prokisch H Genetic landscape of pediatric acute liver failure of indeterminate origin. HEPATOLOGY . : .
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Projects

Project name:
Pipeline para el diagnóstico y seguimiento de pacientes con enfermedades mitocondriales basado en un análisis multiómico: Mitoverso
Leader
Rafael Artuch Iriberri
Funding entities:
Artuch Iriberri, Rafael, Instituto de Salud Carlos III (ISCIII)
Code
PI23/00006
Starting - finishing date:
2024 - 2026
Project name:
SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
Leader
Francesc Palau Martínez
Funding entities:
Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
Code
2021 SGR 01610
Starting - finishing date:
2022 - 2025
Project name:
Secuenciación de exoma para el diagnóstico de pacientes con enfermedades mitocondriales: investigación de aspectos fisiopatológicos y terapéuticos de las deficiencias de conezima Q10.
Leader
Rafael Artuch Iriberri
Funding entities:
Instituto de Salud Carlos III (ISCIII)
Code
PI20/00340
Starting - finishing date:
2021 - 2023
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