Carmen Ayuso
37PUBLICATIONS
287CO-AUTHORS
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Publications (37)
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|Mar 14, 2026
Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.Lucía López-López, Laura Lapeña-Gil, Yolanda Benítez
|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|May 07, 2025
Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.Cristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez
|Apr 29, 2025
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.Solomon S Merepa, Linda M Reis, Alejandra Damián
|Mar 28, 2025
Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients.Alexandre Serra-Llovich, Natalia Cullell, Olalla Maroñas
|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
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Frequent Collaborators
12 joint publications
Pablo Minguez
9 joint publications
Marta Corton
6 joint publications
Irene Perea-Romero
6 joint publications
Saoud Tahsin-Swafiri
6 joint publications
Berta Almoguera
6 joint publications
Alejandra Damián-Verde
4 joint publications
Susanne Roosing
4 joint publications
José M Millán
3 joint publications
Cristina Rodilla
3 joint publications
Marta Del Pozo-Valero
