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American Journal of Human Genetics|September 3, 2013
Mutations in IMPG1 cause vitelliform macular dystrophiesGaël Manes, Isabelle Meunier, Almudena Avila-Fernández, et al.
International Journal of Molecular Sciences|March 13, 2024
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish CohortLidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, et al.
Ophthalmology|April 5, 2014
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degenerationKoji M Nishiguchi, Almudena Avila-Fernandez, Ramon A C van Huet, et al.
Human Genetics|February 22, 2018
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomaliesFabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, et al.
Nucleic Acids Research|September 29, 2020
CSVS, a crowdsourcing database of the Spanish population genetic variabilityMaría Peña-Chilet, Gema Roldán, Javier Perez-Florido, et al.
Biomedicines|March 28, 2025
Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 PatientsAlexandre Serra-Llovich, Natalia Cullell, Olalla Maroñas, et al.
Clinical Genetics|February 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patientsBertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
Elife|October 3, 2024
Novel risk loci for COVID-19 hospitalization among admixed American populationsSilvia Diz-de Almeida, Raquel Cruz, Andre D Luchessi, et al.
Human Molecular Genetics|June 16, 2022
Novel genes and sex differences in COVID-19 severityRaquel Cruz, Silvia Diz-de Almeida, Miguel López de Heredia, et al.
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