The Medicine Genetics Group of the VHIR belongs to the Clinical and Molecular Genetic Area of Hospital Vall d\\’Hebron and combines genetic diagnosis and translational research in hereditary diseases and the study of pathologies and malformations during human development. The group actively works in different consortiums and networks for rare disorders including ERN Ithaca, Cranio, Bond and NMD; SMA Europe; XUEC malalties cognitiu conductuals edat pediàtrica, CIBERER.

Group Leader
Eduardo Fidel Tizzano Ferrari

Principal Investigator (PI)
Alberto, Plaja Rustein, María Antolin Mate; Anna M Cueto González, Anna Abuli Vidal, Marta Codina Sola, Neus Castells Sarret, Berta Campos Estela

Researchers
Mar Costa Roger, Nuria Martínez Gil, Jordi Leno Colorado, Eulalia Rovira Moreno, Patricia Muñoz Cabello

PhD Students
Paula Barranco Bartolomé, Laura Blasco Pérez, Paula Fernandez Alvarez, Georg Lindner, Laura Trujillano Lidon, Irene Valenzuela Palafol, Amaia Lasa Aranzasti

32

PUBLICATIONS

59.4%

%Q1

287

IMPACT FACTOR

8.96

AVERAGE IMPACT FACTOR

SELECTED ARTICLES

Blasco-Pérez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I, Tizzano EF
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Int J Mol Sci. 2022 Jul 27;23(15):8289
DOI: doi: 10.3390/ijms23158289
IF: 6.208

Tizzano EF, Christie-Brown V, Baranello G, Germanenko O, Gray A, Krstic M, Lilien C, Patel H, Servais L, Scoto M
Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative
J Neuromuscul Dis. 2022;9(6):809-820
DOI: doi: 10.3233/JND-221538
IF: 4.693

Codina-Solà M, Trujillano L, Abulí A, Rovira-Moreno E, Muñoz-Cabello P, Campos B, Fernández-Álvarez P, Palau D, Carrasco E, Valenzuela I, Cueto-González AM, Lasa-Aranzasti A, Limeres J, Leno-Colorado J, Costa-Roger M, Moles-Fernández A, Balmaña J, Díez O, Cuscó I, Garcia-Arumí E, Tizzano EF
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
Eur J Hum Genet. 2022 Nov 29
DOI: doi: 10.1038/s41431-022-01240-5
IF: 5.351

Nadal M, Anton R, Dorca-Arévalo J, Estébanez-Perpiñá E, Tizzano EF, Fuentes-Prior P
Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts
Protein Sci. 2022 Dec 22:e4553
DOI: doi: 10.1002/pro.4553
IF: 6.725

Abulí A, Costa-Roger M, Codina-Solà M, Valenzuela I, Leno-Colorado J, Rovira-Moreno E, Cueto-González A, Fernández-Álvarez P, García-Arumí E, Cuscó I, Tizzano EF
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
J Med Genet. 2022 Dec 8:jmedgenet-2022-108607
DOI: doi: 10.1136/jmg-2022-108607
IF: 6.318

Aproximación genómica en atrofia muscular espinal (AME): estudio de casos especiales de pacientes con AME-5q y caracterización de pacientes con AME-no-5q
Principal Investigator: Eduardo Tizzano
Agency: ERDF funds
Funding: 159,720 €
Period: 2019-2023

Spinal Muscular Atrophy (SMA) beyond motoneuron degeneration: multi-system aspects ‘SMABEYOND’
Principal Investigator: Eduardo Tizzano
Agency: European Comission
Funding: 250,904.88 €
Period: 2020-2024

Detección de factores genéticos estructurales modificadores del fenotipo en una población con defectos congénitos
Principal Investigator: PI: Alberto Plaja Rubstein Co-PI: Anna Mª Cueto-González
Agency: ERDF funds
Funding: 123,420 €
Period: 2020-2022

Estudio de los receptores adenosinérgicos para el desarrollo de terapias en Fibrosis Quística
Principal Investigator: Eduardo Tizzano, Elena García Arumí
Agency: Doctorado industrial AGAUR
Funding: 38,000€/year
Period: 2020-2022

Investigación de marcadores de Metiloma en pacientes con sospecha de enfermedades raras
Principal Investigator: Eduardo Tizzano
Agency: ISCIII
Funding: 1,518,500 €
Period: 2022-2024

eCOREs