Carmen Ayuso

Biochemistry, Genetics and Molecular Biology · Life Sciences

68h-index18.0kcitations597works3.12yr avg
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Research Topics

Retinal Development and Disorders(188), Retinal Diseases and Treatments(84), Ocular Disorders and Treatments(40), Genomics and Rare Diseases(37), RNA regulation and disease(35)

Publications579 total

Genetic patterns related to von Willebrand factor: implications on the need for mechanical ventilation, severity, and death in COVID-19
Frontiers in Medicine·2026Open Access
“Guess Who?”: Forensic genetics and archaeology converge to identify Cristopher Columbus descendants
2025Open Access
RetiGene, a comprehensive gene atlas for inherited retinal diseases
The American Journal of Human Genetics·2025· 11 citedOpen Access
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy
Genetics in Medicine·2025Open Access
Role of elastography and dynamic contrast-enhanced ultrasound in the evaluation of pancreas transplantation rejection
European Radiology·2025
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study
Clinical Genetics·2025Open Access
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)
2025· 1 citedOpen Access
Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy
American Journal of Ophthalmology·2025· 1 citedOpen Access
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations
European Journal of Human Genetics·2025· 4 citedOpen Access
Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB
Scientific Reports·2025· 1 citedOpen Access
Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies
International Journal of Molecular Sciences·2025· 1 citedOpen Access
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
The American Journal of Human Genetics·2025· 2 citedOpen Access
Diagnostic performance of contrast-enhanced US in small liver nodules not conclusively characterized after MRI in cirrhotic patients
European Radiology·2025· 2 cited
Education in Pharmacovigilance, 2024/25 updates of the Pharmacovigilance Classroom in collaboration with the University of Granada
2025
Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients
Biomedicines·2025Open Access
Regulación de los hallazgos secundarios e incidentales derivados del análisis genético: desde el ámbito clínico hasta el Espacio Europeo de Datos de Salud
Revista de Bioética y Derecho·2025Open Access
Liver cancer risk and changes in lifestyle habits after successful hepatitis C virus therapy post-DAA HCV therapy: lifestyle changes and liver cancer risk
BMC Gastroenterology·2025Open Access
Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity
Communications Biology·2025· 1 citedOpen Access
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
2025· 13 citedOpen Access
Patient specific differences in retinitis pigmentosa in vitro model
Acta Ophthalmologica·2025
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Frequent Co-authors

Frans P.M. Cremers(7), José M. Millán(7), Elena Vallespín(5), Isabel Lorda‐Sánchez(5), Elena Aller(4), Marta Cortón(4), Rosa Riveiro-Álvarez(4), Joaquín Diaz-Recasens(4), Almudena Ávila‐Fernández(4), Guillermo Antiñolo(4), Montserrat Baiget(4), María José Trujillo-Tiebas(4), Patrizia Amati‐Bonneau(3), Pascal Reynier(3), Bernd Wissinger(3), Christophe Verny(3), Dominique Bonneau(3), Jordi Rimola(3), Estrella Gómez‐Tortosa(3), Rob W.J. Collin(3)