Roser Urreizti (Roser Urreitzi)

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 19

Top Venues

European journal of human genetics : EJHG

Nature communications

Journal of medical genetics

American journal of medical genetics. Part A

Universitat de Barcelona

Univeritat de Barcelona (PHD)

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

Affiliation History

Universitat de Barcelona Jun 01 2019

Spain

Collaborator :: Genetics

Hospital Sant Joan de Deu Jun 01 2019

Spain

Researcher :: Department of Clinical Biochemistry, Genetics and Pediatric Neurology

CIBERER Feb 01 2008

Spain

PostDoc Researcher :: Enfermedades Raras

Universitat de Barcelona Mar 05 2020 - Sep 30 2020

Spain

Adjunct professor :: Genetics

Universitat de Barcelona Feb 01 2008 - May 31 2019

Spain

PostDoc Investigator :: Genetics

Centre de Regulació Genòmica Apr 01 2007 - Sep 30 2007

Spain

Tecnico Doctor

Education History

Univeritat de Barcelona Feb 11 2000 - Mar 22 2007

Spain

PHD :: Genetics

Publications

Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson, Aina Prat-Planas, Juan Diego Gutiérrez-Ávila, Daniel Grinberg, Roser Urreizti, Raquel Rabionet Janssen, Susanna Balcells
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome. Journal of medical genetics 61 (8) (2024)
Xinyu Cao, Madryn Lake, Gerd Van der Hoeven, Zander Claes, Javier Del Pino García, Sarah Lemaire, Elora C Greiner, Spyridoula Karamanou, Aleyde Van Eynde, Arminja N Kettenbach, Daniel Natera-de Benito, Laura Carrera-García, Cristina Hernando Davalillo, Carlos Ortez, Andres Nascimento, Roser Urreizti, Mathieu Bollen
SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1. Nature communications 15 (1) (2024)
Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson, Aina Prat-Planas, Juan Diego Gutiérrez-Ávila, Daniel Grinberg, Roser Urreizti, Raquel Rabionet Janssen, Susanna Balcells
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome. Journal of medical genetics (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG (2024)
Xinyu Cao, Madryn Lake, Gerd Van der Hoeven, Zander Claes, Javier Del Pino García, Sarah Lemaire, Elora C Greiner, Spyridoula Karamanou, Aleyde Van Eynde, Arminja N Kettenbach, Daniel Natera-de Benito, Laura Carrera-García, Cristina Hernando Davalillo, Carlos Ortez, Andres Nascimento, Roser Urreizti, Mathieu Bollen
SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1. Nature communications 15 (1) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Xinyu Cao, Madryn Lake, Gerd Van der Hoeven, Zander Claes, Javier Del Pino García, Sarah Lemaire, Elora C Greiner, Spyridoula Karamanou, Aleyde Van Eynde, Arminja N Kettenbach, Daniel Natera-de Benito, Laura Carrera-García, Cristina Hernando Davalillo, Carlos Ortez, Andres Nascimento, Roser Urreizti, Mathieu Bollen
SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1. Nature communications 15 (1) (2024)
Xinyu Cao, Madryn Lake, Gerd Van der Hoeven, Zander Claes, Javier Del Pino García, Sarah Lemaire, Elora C Greiner, Spyridoula Karamanou, Aleyde Van Eynde, Arminja N Kettenbach, Daniel Natera-de Benito, Laura Carrera-García, Cristina Hernando Davalillo, Carlos Ortez, Andres Nascimento, Roser Urreizti, Mathieu Bollen
SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1. Nature communications 15 (1) (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG (2024)
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria Del Mar O Callaghan, Abraham J Paredes-Fuentes, Pedro Juan Moreno Lozano, Jordi Muchart, Andres Nascimento, Carlos I Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R Fortuna, Deepa S Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment. European journal of human genetics : EJHG 32 (4) (2024)
Abraham J Paredes-Fuentes, Clara Oliva, Roser Urreizti, Delia Yubero, Rafael Artuch
Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up. Critical reviews in clinical laboratory sciences (2023)
Monica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype. International journal of molecular sciences 24 (18) (2023)
Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A G Ranea, Pedro Seoane, Clara Oliva, Abraham J Paredes-Fuentes, Gemma Marfany, Rafael Artuch, Daniel Grinberg, Raquel Rabionet Janssen, Susanna Balcells, Roser Urreizti
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. Journal of medical genetics (2022)
Sukhleen Kour, Deepa S Rajan, Tyler R Fortuna, Eric N Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S Stolerman, Sarah S Barnett, Margot A Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H Nemeth, Dhivyaa Rajasundaram, A Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R McCurry, John E Landers, Sameer Agnihotri, E Corina Andriescu, Shade B Moody, Chanika Phornphutkul, Maria J Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G Bönnemann, Matias Wagner, Mahmoud Y Issa, Hasnaa M Elbendary, Valentina Stanley, Reza Maroofian, Joseph G Gleeson, Maha Saad Zaki, Jan Senderek, Udai Bhan Pandey
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature communications 12 (1) (2021)
Charlotte von der Lippe, Kristian Tveten, Trine E Prescott, Øystein L Holla, Øyvind L Busk, Katherine B Burke, Francis H Sansbury, Júlia Baptista, Andrew E Fry, Derek Lim, Stephen R A Jolles, Jennifer Evans, Deborah Osio, Carol Macmillan, Irene Bruno, Flavio Faltera, Salvador Climent, Roser Urreizti, Janet Hoenicka, Francesc Palau, Ana S A Cohen, Kendra Engleman, Dihong Zhou, Shivarajan M Amudhavalli, Médéric Jeanne, Frédérique Bonnet-Brilhault, Jonathan Lévy, Séverine Drunat, Nicolas Derive, Marte G Haug, Wenche Moe Thorstensen
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. American journal of medical genetics. Part A (2021)
Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O'Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. Orphanet journal of rare diseases 15 (1) (2020)
Roser Urreizti, Semra Gürsoy, Laura Castilla-Vallmanya, Guillem Cunill, Raquel Rabionet, Derya Erçal, Daniel Grinberg, Susana Balcells
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. Clinical case reports 6 (8) (2018)

Roser Urreizti.css-eqlu8i{font-size:small;padding-left:4px;} (Roser Urreitzi)

Publication Activity (10 Years)

Top Topics

Top Venues

Roser Urreizti (Roser Urreitzi)