Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martínez-Gil N, Valverde D, Solarat C, Bruel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner TP, Toriyama M, Marcotte EM, Drew K, Roberson EC, Jackson PK, Reiter JF, Tizzano EF, Wallingford JB
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture
Nat Commun. 2025 Jul 1;16(1):5701
DOI: 10.1038/s41467-025-61005-8
IF: 15.7
RESEARCH GROUPS
Genetics Medicine
41
Number of publications
65.85
%
% Q1
39.02
%
% D1
41.46
%
% Leadership
29.41
%
% Female Leadership
1.86
CROWN (2021-2025)
22.35
%
HCP10% (2021-2025)
73.17
%
% Open access
53.66
%
% International Collaboration
8
Highly cited papers / HCP 1% (2021-2025)
1
Publications in high-IF journals with high Altmetric scores
2
Number of Ongoing Projectes (total)
0
International ongoing projects
0
Number of New projects (total)
0
International new projects
0
Number of Active clinical Trials
0
Number of New Clinical Trials
1
Number of Theses
The Genetic Medicine group at VHIR is combines clinical activities at HUVH and very active clinical research. There have been during 2025, 54 peer reviewed publications in many different areas of clinical genetics and cancer genetics. We have highlighted below 5 publications in which members of the group are first or senior authors. These studies have been performed in local cohorts of clinic patients In addition multiple members of the group have been part in high impact collaborative publications (PMID 40977504, 41298377, 40608414, 40210679). Of note, the group is at the forefront of gene discovery and new mechanisms of disease including the novel RENU syndrome, caused small nuclear RNA variants. The group has multiple co-investigators in innovative research projects. Seven members of the group are PHDs and another 7 are in process, 4 will read their thesis in 2026, hoping to expand the number of PIs. The group is involved in the community and supports multiple patient associations.
CORE/MISSIONS
PROGRAMS
TEAM
Group Leader
Miguel del Campo Casanelles
Principal Investigator (PI)
Miguel del Campo Casanelles
Researchers
Anna Maria Cueto Gonzalez, Amaia Lasa Aranzasti, Berta Campos Estela, Lidia Carreno Gago, Marta Codina Solà, Mar Costa Roger, Joanna Domenech Vivo, Jordi Leno Colorado, Emma Lorente Ruiz, Alejandro Moles Fernandez, Nuria Martinez Gil, Marina Viñas Jornet, Hector San Nicolas Fernandez
PhD Students
Laura Trujillano Lidon, Irene Valenzuela Palafoll, Cristina Cea Arestin, Paula Fernandez Alvarez, Mar Xuncla Lloret
SELECTED PUBLICATIONS
Codina-Solà M, Costa-Roger M, Abulí A, Blasco-Pérez L, Martínez-Cruz D, Leno-Colorado J, Sánchez-Duran MA, Arévalo S, Maiz N, Gómez-Andres D, Vázquez E, Rodó C, Tizzano EF
Type 0 Spinal Muscular Atrophy Detected by Prenatal Exome Sequencing: Towards a Recognizable Fetal Phenotype
Prenat Diagn. 2026 Feb;46(2):290-294
DOI: 10.1002/pd.70041
IF: 2.7
Valenzuela I, Codina-Solà M, Vazquez E, Cueto-González A, Leno-Colorado J, Lasa-Aranzasti A, Trujillano L, Masotto B, Masas M, Escobar M, García-Arumí E, Tizzano EF
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome
Genet Med. 2026 Jan;28(1):101633
DOI: 10.1016/j.gim.2025.101633
IF: 6.2
Trujillano L, Valenzuela I, Costa-Roger M, Cuscó I, Fernandez-Alvarez P, Cueto-González A, Lasa-Aranzasti A, Masotto B, Abulí A, Codina-Solà M, Del Campo M, Ruiz Moreno JA, Pardo Domínguez C, Palma Milla C, Pérez de la Fuente R, Quesada-Espinosa JF, Núñez-Enamorado N, Gener B, Ballesta-Martínez MJ, Brea-Fernández AJ, Fernández-Prieto M, Trujillo-Quintero JP, Ruiz A, Santos-Simarro F, Rosello M, Orellana C, Martinez F, Martinez-Monseny AF, Casas-Alba D, Serrano M, Palomares-Bralo M, Rikeros-Orozco E, Gómez-Cano MÁ, Tirado-Requero P, Pié Juste J, Ramos FJ, García-Arumí E, Tizzano EF
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome
Clin Genet. 2025 Jun;107(6):646-662
DOI: 10.1111/cge.14701
IF: 2.3
Barbero AIS, Valenzuela I, Fernández-Alvarez P, Vazquez É, Cueto-Gonzalez AM, Lasa-Aranzasti A, Trujillano L, Masotto B, Arumí EG, Tizzano EF
New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients
Am J Med Genet A. 2025 Mar;197(3):e63905
DOI: 10.1002/ajmg.a.63905
IF: 1.7
SELECTED PROJECTS
Trio Study in Fetuses with Central Nervous System Malformations
Principal Investigator: Carlota Rodó
Agency: Fundació La Marató de TV3
Funding: 197,000 €
Period: 20/02/2025 - 19/02/2028
Paving the Way for Personalized Medicine in neonatal and pediatric Intensive Care Units
Principal Investigator: Fernando Santos Simarro and Maria Palomares Bralo
Agency: ISCIII
Funding: 147,620 €
Period: 2022-2025 (until 2027)
Whole genome sequencing as the first test to improve the genetic diagnosis of hereditary breast/ovarian cancer
Principal Investigator: Sara Gutiérrez-Enríquez
Agency: Carlos III Health Institute
Funding: 220,220 €
Period: 2023-2025
PRISMA-II: Risk stratification of breast/ovarian cancer using the polygenic risk score. Validation in carriers, prospective cohort, and feasibility of genome sequencing
Principal Investigator: Judith Balmaña
Agency: Carlos III Health Institute
Funding: 190,000 €
Period: 2024 - 2026
PATENTS
DISSEMINATION ACTIVITIES
