Nutrition and Hydration for High-Altitude Alpinism: A Narrative Review

por Viscor, Ginés, Corominas, Jordi, Carceller, Anna
Publicado 2023

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing

por Alvarez-Mora, Maria Isabel, Corominas, Jordi, Gilissen, Christian, Sanchez, Aurora, Madrigal, Irene, Rodriguez-Revenga, Laia
Publicado 2021

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders

por Álvarez-Mora, María Isabel, Sánchez, Aurora, Rodríguez-Revenga, Laia, Corominas, Jordi, Rabionet, Raquel, Puig, Susana, Madrigal, Irene
Publicado 2022

Clinical exome sequencing—Mistakes and caveats

por Corominas, Jordi, Smeekens, Sanne P., Nelen, Marcel R., Yntema, Helger G., Kamsteeg, Erik‐Jan, Pfundt, Rolph, Gilissen, Christian
Publicado 2022

Survey of SSC12 Regions Affecting Fatty Acid Composition of Intramuscular Fat Using High-Density SNP Data

por Muñoz, María, Alves, Estefânia, Corominas, Jordi, Folch, Josep María, Casellas, Joaquim, Noguera, Jose Luis, Silió, Luis, Fernández, Ana Isabel
Publicado 2012

Polymorphism in the ELOVL6 Gene Is Associated with a Major QTL Effect on Fatty Acid Composition in Pigs

por Corominas, Jordi, Ramayo-Caldas, Yuliaxis, Puig-Oliveras, Anna, Pérez-Montarelo, Dafne, Noguera, Jose L., Folch, Josep M., Ballester, Maria
Publicado 2013

Epigenetic regulation of the ELOVL6 gene is associated with a major QTL effect on fatty acid composition in pigs

por Corominas, Jordi, Marchesi, Jorge AP, Puig-Oliveras, Anna, Revilla, Manuel, Estellé, Jordi, Alves, Estefânia, Folch, Josep M, Ballester, Maria
Publicado 2015

Integration of liver gene co-expression networks and eGWAs analyses highlighted candidate regulators implicated in lipid metabolism in pigs

por Ballester, Maria, Ramayo-Caldas, Yuliaxis, Revilla, Manuel, Corominas, Jordi, Castelló, Anna, Estellé, Jordi, Fernández, Ana I., Folch, Josep M.
Publicado 2017

A Co-Association Network Analysis of the Genetic Determination of Pig Conformation, Growth and Fatness

por Puig-Oliveras, Anna, Ballester, Maria, Corominas, Jordi, Revilla, Manuel, Estellé, Jordi, Fernández, Ana I., Ramayo-Caldas, Yuliaxis, Folch, Josep M.
Publicado 2014

Analysis of porcine adipose tissue transcriptome reveals differences in de novo fatty acid synthesis in pigs with divergent muscle fatty acid composition

por Corominas, Jordi, Ramayo-Caldas, Yuliaxis, Puig-Oliveras, Anna, Estellé, Jordi, Castelló, Anna, Alves, Estefania, Pena, Ramona N, Ballester, Maria, Folch, Josep M
Publicado 2013

New insight into the SSC8 genetic determination of fatty acid composition in pigs

por Revilla, Manuel, Ramayo-Caldas, Yuliaxis, Castelló, Anna, Corominas, Jordi, Puig-Oliveras, Anna, Ibáñez-Escriche, Noelia, Muñoz, María, Ballester, Maria, Folch, Josep M
Publicado 2014

Differences in Muscle Transcriptome among Pigs Phenotypically Extreme for Fatty Acid Composition

por Puig-Oliveras, Anna, Ramayo-Caldas, Yuliaxis, Corominas, Jordi, Estellé, Jordi, Pérez-Montarelo, Dafne, Hudson, Nicholas J., Casellas, Joaquim, Folch, Josep M., Ballester, Maria
Publicado 2014

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

por Sumathipala, Dulika, Strømme, Petter, Gilissen, Christian, Einarsen, Ingunn Holm, Bjørndalen, Hilde J., Server, Andrés, Corominas, Jordi, Hassel, Bjørnar, Fannemel, Madeleine, Misceo, Doriana, Frengen, Eirik
Publicado 2020

Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients

por Basharat, Rabia, Rodenburg, Kim, Rodríguez-Hidalgo, María, Jarral, Afeefa, Ullah, Ehsan, Corominas, Jordi, Gilissen, Christian, Zehra, Syeda Tatheer, Hameed, Usman, Ansar, Muhammad, de Bruijn, Suzanne E.
Publicado 2023

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age‐related macular degeneration

por Kersten, Eveline, Geerlings, Maartje J., Pauper, Marc, Corominas, Jordi, Bakker, Bjorn, Altay, Lebriz, Fauser, Sascha, de Jong, Eiko K., Hoyng, Carel B., den Hollander, Anneke I.
Publicado 2018

Liver transcriptome profile in pigs with extreme phenotypes of intramuscular fatty acid composition

por Ramayo-Caldas, Yuliaxis, Mach, Nuria, Esteve-Codina, Anna, Corominas, Jordi, Castelló, Anna, Ballester, Maria, Estellé, Jordi, Ibáñez-Escriche, Noelia, Fernández, Ana I, Pérez-Enciso, Miguel, Folch, Josep M
Publicado 2012

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

por Rodríguez-Hidalgo, María, de Bruijn, Suzanne E., Corradi, Zelia, Rodenburg, Kim, Lara-López, Araceli, Valverde-Megías, Alicia, Ávila-Fernández, Almudena, Fernandez-Caballero, Lidia, Del Pozo-Valero, Marta, Corominas, Jordi, Gilissen, Christian, Irigoyen, Cristina, Cremers, Frans P. M., Ayuso, Carmen, Ruiz-Ederra, Javier, Roosing, Susanne
Publicado 2023

Family-based exome sequencing identifies rare coding variants in age-related macular degeneration

por Ratnapriya, Rinki, Acar, İlhan E, Geerlings, Maartje J, Branham, Kari, Kwong, Alan, Saksens, Nicole T M, Pauper, Marc, Corominas, Jordi, Kwicklis, Madeline, Zipprer, David, Starostik, Margaret R, Othman, Mohammad, Yashar, Beverly, Abecasis, Goncalo R, Chew, Emily Y, Ferrington, Deborah A, Hoyng, Carel B, Swaroop, Anand, den Hollander, Anneke I
Publicado 2020

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

por Fadaie, Zeinab, Whelan, Laura, Ben-Yosef, Tamar, Dockery, Adrian, Corradi, Zelia, Gilissen, Christian, Haer-Wigman, Lonneke, Corominas, Jordi, Astuti, Galuh D. N., de Rooij, Laura, van den Born, L. Ingeborgh, Klaver, Caroline C. W., Hoyng, Carel B., Wynne, Niamh, Duignan, Emma S., Kenna, Paul F., Cremers, Frans P. M., Farrar, G. Jane, Roosing, Susanne
Publicado 2021