Publicaciones
-
Salvador, L, del Valle, J, Dorca, E, Chong, AS, Chong, AL, Valenzuela, JC, Munté, E, Rioja, C, Marti-Sanchez L, Salinas, M, Darder, E, Fabian, MR, Brunet, J, Salvador-Hernandez H, Lázaro, C and Rivera, B.
DICER1 in pediatric and adult cancer predisposition populations: Prevalence, phenotypes, and mosaicism
GENETICS IN MEDICINE . 27(5): .
-
Vicente-Garces C, Fernandez-Isern G, Esperanza-Cebollada E, Richarte M, Crespo-Carrasco A, Montesdeoca S, Isola I, Sarrate E, Cuatrecasas E, Rives-Solà S, Dapena JL, Camós-Guijosa M and Vega-García N.
RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia
BRITISH JOURNAL OF HAEMATOLOGY . 206(5): 1355-1365.
-
Lange LM, Levine K, Fox SH, Marras C, Ahmed N, Kuznetsov N, Vitale D, Iwaki H, Lohmann K, Marsili L, Espay AJ, Bauer P, Beetz C, Martin J, Factor SA, Higginbotham LA, Chen H, Leonard H, Nalls MA, Mencacci NE, Morris HR, Singleton AB, Klein C, Blauwendraat C and Fang ZH.
The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.
npj Parkinsons Disease . 11(1): 58-58.
-
Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
EUROPEAN JOURNAL OF HUMAN GENETICS . 33(2): 239-247. Nº de citas: 3
-
Hernández-Rodríguez J, Martínez-Valle F, Acebes X, Alerany C, Anton-Lopez J, Calvo G, Corral M, Cruz J, Mangues-Bafalluy MA, Mateo J, Rivera J, Salazar A, Francisco R, Mallol C, Reig-Viader R, Tigri-Santiña A, Ricart A and Palau F.
Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project
ORPHANET JOURNAL OF RARE DISEASES . 20(1): 42-42.
-
Llargués-Sistac G, Bonjoch L, Muñoz J, Domínguez-Rovira X, Ocaña T, Alvarez-Mora MI, Badenas C, Esteve-Codina A, Reyes-Silva C, Jaramillo-Koupermann G, Rodrigo MT, López-Prades S, Cuatrecasas M, Castells A, Balaguer F, Moreira L, Fernandez-Isern G and Castellví-Bel S.
Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador
npj Genomic Medicine . 10(1): 3-3.
-
Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García AP, García-García O, O'Callaghan-Gordo M, Pascual-Alonso A, Armstrong-Moron J, Mds Group and Martinez-Monseny T.
MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables
Diagnostics . 15(1): .
-
Palau F, Cantarero-Abad L, Roldan-Molina M, Rodríguez-Sanz M, Mathison A, Díaz-Osorio Y, Pijuan-Marquilles J, Frías M, Urrutia R and Hoenicka J.
Abnormal Redox Balance at Membrane Contact Sites Causes Axonopathy in Gdap1-related Charcot-marie-tooth Disease.
research square . : .
-
Llach J, Luzko I, Earl J, Barreto E, Rodríguez-Garrote M, Lleixà M, Herrera-Pariente C, Fernandez-Isern G, Munoz J, Bonjoch L, Saurí T, Ausania F, Ocaña T, Moreno L, Grau E, Oriola J, Alvarez-Mora MI, Herreros-Villanueva M, Castellví-Bel S, Balaguer F, Bujanda L and Moreira L.
Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study.
Cancers . 16(22): .
-
Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD.
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72. Nº de citas: 2