Carmen Ayuso

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 263 publications

Clinical and molecular features of PRCD-associated retinopathy.

Clinical and molecular features of PRCD-associated retinopathy.

Journal: Acta ophthalmologica

Published: May 07, 2026

Case report: Characterization of a patient with novel biallelic variants in GTF3C3 and comprehensive review of previously reported cases.

Case report: Characterization of a patient with novel biallelic variants in GTF3C3 and comprehensive review of previously reported cases.

Journal: Frontiers in genetics

Published: April 20, 2026

Erratum to 'BCLC strategy for prognosis prediction and treatment recommendations: The 2026 update' [J Hepatol (2026) 631-654].

Erratum to 'BCLC strategy for prognosis prediction and treatment recommendations: The 2026 update' [J Hepatol (2026) 631-654].

Journal: Journal of hepatology

Published: April 05, 2026

Germline pathogenic variants associated with prostate cancer susceptibility in a Spanish cohort: emergence of new key players.

Germline pathogenic variants associated with prostate cancer susceptibility in a Spanish cohort: emergence of new key players.

Journal: Scientific reports

Published: March 04, 2026

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Journal: medRxiv : the preprint server for health sciences

Published: February 06, 2026

Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy.

Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy.

Journal: Prenatal diagnosis

Published: December 04, 2025

BCLC strategy for prognosis prediction and treatment recommendations: The 2025 update.

BCLC strategy for prognosis prediction and treatment recommendations: The 2025 update.

Journal: Journal of hepatology

Published: September 12, 2025

BCLC strategy for prognosis prediction and treatment recommendations: The 2026 update.

BCLC strategy for prognosis prediction and treatment recommendations: The 2026 update.

Journal: Journal of hepatology

Published: September 12, 2025

Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.

Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: July 16, 2025

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).

Journal: bioRxiv : the preprint server for biology

Published: July 15, 2025

RetiGene, a comprehensive gene atlas for inherited retinal diseases.

RetiGene, a comprehensive gene atlas for inherited retinal diseases.

Journal: American journal of human genetics

Published: June 10, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

Showing 1-12 of 263

Last Updated: 09/26/2026