Ferran Casals
Overview
Explore the profile of Ferran Casals including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
77
Citations
2384
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Medaglia S, Reig-Palou J, Belles A, Moreno-Ruiz N, Rodriguez J, Armengol X, et al.
Clin Genet
. 2024 Nov;
107(3):323-327.
PMID: 39501598
Functional annotation and interpretation of genetic variants are a critical step in genetic diagnosis, as it may lead to personalized therapeutic options and genetic counseling. While the number of confirmed...
2.
Urbaneja E, Bonet N, Solis-Moruno M, Mensa-Vilaro A, de Landazuri I, Tormo M, et al.
Front Immunol
. 2024 Apr;
15:1381447.
PMID: 38646532
Undiagnosed monogenic diseases represent a challenging group of human conditions highly suspicious to have a genetic origin, but without conclusive evidences about it. We identified two brothers born prematurely from...
3.
Ospina Cardona D, Rodriguez-Pinto I, Iosim S, Bonet N, Mensa-Vilaro A, Wong M, et al.
Rheumatology (Oxford)
. 2024 Mar;
63(10):2897-2902.
PMID: 38552317
Objective: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a complex immune disorder consequence of somatic UBA1 variants. Most reported pathogenic UBA1 variants are missense or splice site mutations...
4.
Vega M, Barrios R, Fraile R, de Castro Cogle K, Castillo D, Anglada R, et al.
Nucleic Acids Res
. 2023 Nov;
51(22):12161-12173.
PMID: 37956308
Chromatin remodeling is essential to allow full development of alternative gene expression programs in response to environmental changes. In fission yeast, oxidative stress triggers massive transcriptional changes including the activation...
5.
Mascaro J, Rodriguez-Pinto I, Poza G, Mensa-Vilaro A, Fernandez-Martin J, Caminal-Montero L, et al.
Ann Rheum Dis
. 2023 Sep;
82(12):1594-1605.
PMID: 37666646
Background: The vacuoles, E1-enzyme, X linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease (AID) due to postzygotic variants. Objectives: To investigate the presence of VEXAS syndrome among...
6.
Aizpurua-Iraola J, Rasal R, Prieto L, Comas D, Bonet N, Casals F, et al.
Forensic Sci Int Genet
. 2023 Jun;
66:102906.
PMID: 37364481
The use of mitochondrial DNA (mtDNA) in the field of forensic genetics is widely spread mainly due to its advantages when identifying highly degraded samples. In this sense, massive parallel...
7.
Calls A, Torres-Espin A, Tormo M, Martinez-Escardo L, Bonet N, Casals F, et al.
Ann Clin Transl Neurol
. 2022 Nov;
9(12):1985-1998.
PMID: 36369764
Objectives: Peripheral neuropathy is a relevant dose-limiting adverse event that can affect up to 90% of oncologic patients with colorectal cancer receiving oxaliplatin treatment. The severity of neurotoxicity often leads...
8.
Solis-Moruno M, Batlle-Maso L, Bonet N, Arostegui J, Casals F
Eur J Hum Genet
. 2022 Oct;
31(1):48-54.
PMID: 36289407
Somatic genetic variants have been studied for several years mostly concerning cancer, where they contribute to its origin and development. It is also clear that the somatic variants load is...
9.
Moreno-Ruiz N, Lao O, Arostegui J, Laayouni H, Casals F
Eur J Hum Genet
. 2022 Oct;
30(12):1439-1443.
PMID: 36192439
An important fraction of patients with rare disorders remains with no clear genetic diagnostic, even after whole-exome or whole-genome sequencing, posing a difficulty in giving adequate treatment and genetic counseling....
10.
Lobon I, Solis-Moruno M, Juan D, Muhaisen A, Abascal F, Esteller-Cucala P, et al.
Front Aging
. 2022 Jul;
3:851039.
PMID: 35821807
The role of somatic mutations in complex diseases, including neurodevelopmental and neurodegenerative disorders, is becoming increasingly clear. However, to date, no study has shown their relation to Parkinson disease's phenotype....