idUS - Browsing by Author "Dopazo, Joaquín"

Article

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

Dopazo, Joaquín; Amadoz, Alicia; Bleda, Marta; Garcia Alonso, Luz; Daub, Josephine T.; Antiñolo Gil, Guillermo; Bhattacharya, Shomi S. (Oxford University Press, 2016)

Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical ...

Article

A map of human microRNA variation uncovers unexpectedly high levels of variability

Carbonell, Jose; Alloza, Eva; Arce, P.; Borrego, Salud; Santoyo, Javier; Ruiz Ferrer, Macarena; Antiñolo Gil, Guillermo; Dopazo, Joaquín (BMC, 2012-08-24)

Background: MicroRNAs (miRNAs) are key components of the gene regulatory network in many species. During the past few ...

Article

CSVS, a crowdsourcing database of the Spanish population genetic variability

Peña-Chilet, María; Roldán, Gema; Perez-Florido, Javier; Ortuño, Francisco M.; Carmona, Rosario; Antiñolo Gil, Guillermo; Dopazo, Joaquín (OXFORD UNIV PRESS, 2021)

The knowledge of the genetic variability of the local population is of utmost importance in personalized medicine and has ...

Article

Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

González del Pozo, María; Méndez-Vidal, Cristina; Bravo-Gil, Nereida; Vela-Boza, Alicia; Dopazo, Joaquín; Borrego, Salud; Antiñolo Gil, Guillermo (Public Library of Science, 2014)

This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of ...

Article

Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development

Villalba-Benito, Leticia; López-López, Daniel; Torroglosa, Ana; Casimiro-Soriguer, Carlos S.; Luzón-Toro, Berta; Fernández, Raquel María; Moya-Jiménez, María José; Antiñolo Gil, Guillermo; Dopazo, Joaquín; Borrego, Salud (BMC, 2021)

Background: Hirschsprung disease (HSCR, OMIM 142623) is a rare congenital disorder that results from a failure to fully ...

Article

Implementing personalized medicine in covid-19 in andalusia: an opportunity to transform the healthcare system

Dopazo, Joaquín; Maya Miles, Douglas; García, Federico; Lorusso, Nicola; Calleja, Miguel Ángel; Pareja, María Jesús; López Miranda, José; Rodríguez-Baño, Jesús; Padillo Ruiz, Francisco Javier; Romero Gómez, Manuel (MDPI, 2021-05-26)

The COVID-19 pandemic represents an unprecedented opportunity to exploit the advantages of personalized medicine for the ...

Article

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel

Bravo Gil, Nereida Inés; Méndez Vidal, Cristina; Romero Pérez, Laura; González del Pozo, María; Rodríguez de la Rúa Franch, Enrique; Dopazo, Joaquín; Antiñolo Gil, Guillermo (Springer Nature, 2016)

Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis of Inherited Retinal ...

Article

Integrating pathway knowledge with deep neural networks to reduce the dimensionality in single-cell RNA-seq data

Gundogdu, Pelin; Loucera, Carlos; Alamo Álvarez, Inmaculada; Dopazo, Joaquín; Nepomuceno Chamorro, Isabel de los Ángeles (BMC, 2022)

Background: Single-cell RNA sequencing (scRNA-seq) data provide valuable insights into cellular heterogeneity which is ...

Article

Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

Borrego López, Salud; Santoyo, Javier; Barragán Mallofret, María Isabel; Pieras Martín, Juan Ignacio; Dopazo, Joaquín; Antiñolo Gil, Guillermo; Matamala Zamarro, Nerea; Naranjo Río-Miranda, Belén; González del Pozo, María (2011)

Article

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

Méndez-Vidal, Cristina; Bravo-Gil, Nereida; González del Pozo, María; Vela-Boza, Alicia; Dopazo, Joaquín; Borrego, Salud; Antiñolo Gil, Guillermo (BioMed Central Ltd., 2014-12-14)

Background: Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive ...

Article

Real world evidence of calcifediol or vitamin D prescription and mortality rate of COVID-19 in a retrospective cohort of hospitalized Andalusian patients

Peña-Chilet, María; Esteban-Medina, Marina; Muñoyerro Muñiz, Dolores; Loucera, Carlos; Villegas, Román; López Miranda, José; Rodríguez-Baño, Jesús; Túnez, Isaac; Bouillon, Roger; Dopazo, Joaquín; Quesada Gómez, José Manuel (Nature Research, 2021-12-03)

COVID-19 is a major worldwide health problem because of acute respiratory distress syndrome, and mortality. Several lines ...

Browsing by Author "Dopazo, Joaquín"

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation ﻿

A map of human microRNA variation uncovers unexpectedly high levels of variability ﻿

CSVS, a crowdsourcing database of the Spanish population genetic variability ﻿

Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies ﻿

Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development ﻿

Implementing personalized medicine in covid-19 in andalusia: an opportunity to transform the healthcare system ﻿

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel ﻿

Integrating pathway knowledge with deep neural networks to reduce the dimensionality in single-cell RNA-seq data ﻿

Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing ﻿

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree ﻿

Real world evidence of calcifediol or vitamin D prescription and mortality rate of COVID-19 in a retrospective cohort of hospitalized Andalusian patients ﻿

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

A map of human microRNA variation uncovers unexpectedly high levels of variability

CSVS, a crowdsourcing database of the Spanish population genetic variability

Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development

Implementing personalized medicine in covid-19 in andalusia: an opportunity to transform the healthcare system

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel

Integrating pathway knowledge with deep neural networks to reduce the dimensionality in single-cell RNA-seq data

Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

Real world evidence of calcifediol or vitamin D prescription and mortality rate of COVID-19 in a retrospective cohort of hospitalized Andalusian patients