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1 . Academic Journal
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
저자
by
Béatrice Bocquet
;
Caroline Borday
;
Nejla Erkilic
;
Daria Mamaeva
;
Alicia Donval
, et al.
소스
JCI Insight, Vol 8, Iss 21 (2023)
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7 . Academic Journal
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
저자
by
Alejandra Damián
;
Gonzalo Núñez-Moreno
;
Claire Jubin
;
Alejandra Tamayo
;
Marta Rodríguez de Alba
, et al.
소스
Human Genomics, Vol 17, Iss 1, Pp 1-12 (2023)
Open Access (BioMed Central)
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7 . Academic Journal
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort
저자
by
Lidia Fernández-Caballero
;
Inmaculada Martín-Merida
;
Fiona Blanco-Kelly
;
Almudena Avila-Fernandez
;
Ester Carreño
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2913 (2024)
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7 . Academic Journal
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
저자
by
Irene Perea-Romero
;
Carlos Solarat
;
Fiona Blanco-Kelly
;
Iker Sanchez-Navarro
;
Brais Bea-Mascato
, et al.
소스
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-7 (2022)
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7 . Academic Journal
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19
저자
by
Rosario López-Rodríguez
;
Marta Del Pozo-Valero
;
Marta Corton
;
Pablo Minguez
;
Javier Ruiz-Hornillos
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
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7 . Academic Journal
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases
저자
by
Raquel Romero
;
Lorena de la Fuente
;
Marta Del Pozo-Valero
;
Rosa Riveiro-Álvarez
;
María José Trujillo-Tiebas
, et al.
소스
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
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7 . Academic Journal
SARS-CoV-2 Point Mutation and Deletion Spectra and Their Association with Different Disease Outcomes
저자
by
Brenda Martínez-González
;
María Eugenia Soria
;
Lucía Vázquez-Sirvent
;
Cristina Ferrer-Orta
;
Rebeca Lobo-Vega
, et al.
소스
Microbiology Spectrum, Vol 10, Iss 2 (2022)
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7 . Academic Journal
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia
저자
by
Alejandra Tamayo
;
Gonzalo Núñez-Moreno
;
Carolina Ruiz
;
Julie Plaisancie
;
Alejandra Damian
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1562 (2023)
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7 . Academic Journal
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks
저자
by
Lorena de la Fuente
;
Marta Del Pozo-Valero
;
Irene Perea-Romero
;
Fiona Blanco-Kelly
;
Lidia Fernández-Caballero
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1661 (2023)
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7 . Academic Journal
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies
저자
by
Ionut-Florin Iancu
;
Almudena Avila-Fernandez
;
Ana Arteche
;
Maria Jose Trujillo-Tiebas
;
Rosa Riveiro-Alvarez
, et al.
소스
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-9 (2021)
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