Ferran Casals

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 58 publications

Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.

Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.

Journal: Neurobiology of disease

Published: September 15, 2025

Editorial: Rare diseases research and diagnosis in low- and middle-income countries.

Editorial: Rare diseases research and diagnosis in low- and middle-income countries.

Journal: Frontiers in genetics

Published: July 29, 2025

Rare Variant Association Analysis Uncovers Involvement of VNN2 in Stroke Outcome.

Rare Variant Association Analysis Uncovers Involvement of VNN2 in Stroke Outcome.

Journal: Stroke

Published: June 11, 2025

Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement.

Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement.

Journal: NPJ genomic medicine

Published: May 02, 2025

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.

Journal: Journal of clinical immunology

Published: January 19, 2025

The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.

The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.

Journal: Clinical genetics

Published: August 01, 2024

Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist.

Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist.

Journal: Frontiers in immunology

Published: February 03, 2024

Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.

Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.

Journal: Rheumatology (Oxford, England)

Published: December 14, 2023

Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism.

Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism.

Journal: Annals of the rheumatic diseases

Published: June 07, 2023

Population analysis of complete mitogenomes for 334 samples from El Salvador.

Population analysis of complete mitogenomes for 334 samples from El Salvador.

Journal: Forensic science international. Genetics

Published: March 22, 2023

Topoisomerase 1 facilitates nucleosome reassembly at stress genes during recovery.

Topoisomerase 1 facilitates nucleosome reassembly at stress genes during recovery.

Journal: Nucleic acids research

Published: March 15, 2023

A transient inflammatory response contributes to oxaliplatin neurotoxicity in mice.

A transient inflammatory response contributes to oxaliplatin neurotoxicity in mice.

Journal: Annals of clinical and translational neurology

Published: September 16, 2022

Showing 1-12 of 58

Last Updated: 09/26/2026