J. Corominas

发表

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

J. Estellé, M. Pérez-Enciso, J. Folch, 2012, BMC Genomics.

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

J. Estellé, J. Folch, Y. Ramayo-Caldas, 2014, PloS one.

Exome chip analyses in adult attention deficit hyperactivity disorder

S. Cichon, L. Kiemeney, B. Franke, 2016, Translational psychiatry.

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

L. Vissers, C. Gilissen, E. Kamsteeg, 2020, medRxiv.

Analysis of the porcine APOA2 gene expression in liver, polymorphism identification and association with fatty acid composition traits.

J. Folch, A. Fernández, A. Castelló, 2016, Animal genetics.

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

J. Estellé, J. Folch, Y. Ramayo-Caldas, 2017, Scientific Reports.

Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing

S. Cichon, L. Kiemeney, B. Franke, 2018, Molecular Psychiatry.

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

J. Estellé, R. Pena, J. Folch, 2013, BMC Genomics.

Clinical exome sequencing—Mistakes and caveats

R. Pfundt, S. Smeekens, M. Nelen, 2022, Human mutation.

TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery.

D. Misceo, C. Gilissen, P. Strømme, 2019, Pediatric neurology.

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

J. Estellé, J. Folch, E. Alves, 2015, Genetics Selection Evolution.

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

J. Folch, Y. Ramayo-Caldas, A. Castelló, 2014, Genetics Selection Evolution.

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

L. Vissers, A. Hoischen, I. Fajardy, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

R. Rabionet, L. Rodriguez-Revenga, I. Madrigal, 2022, Orphanet Journal of Rare Diseases.

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

S. Mundlos, S. Mead, M. Mhlanga, 2020, American journal of human genetics.

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

J. Noguera, L. Silió, J. Folch, 2012, Front. Gene..

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

J. Noguera, J. Folch, Y. Ramayo-Caldas, 2013, PloS one.

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

J. Estellé, J. Folch, Y. Ramayo-Caldas, 2014, PloS one.

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

J. Estellé, R. Pena, J. Folch, 2013, BMC Genomics.

Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch’s Membrane

A. Hofman, C. Klaver, A. D. den Hollander, 2018, Ophthalmology.

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

F. Cremers, C. Gilissen, C. Hoyng, 2021, npj Genomic Medicine.

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

F. Cremers, C. Gilissen, C. Hoyng, 2021, Journal of Medical Genetics.

Evaluation of the porcine ACSL4 gene as a candidate gene for meat quality traits in pigs.

J. Folch, Y. Ramayo-Caldas, A. Castelló, 2012, Animal genetics.

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

C. Gilissen, L. Rodriguez-Revenga, I. Madrigal, 2021, Genes.

Association of Genetic Variants With Response to Anti–Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration

I. Chowers, P. Mitchell, I. Heid, 2018, JAMA ophthalmology.

Association of Genetic VariantsWith Response to Anti – Vascular Endothelial Growth Factor Therapy in Age-RelatedMacular Degeneration

P. Mitchell, I. Heid, R. Guymer, 2018 .

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

Alan M. Kwong, G. Abecasis, E. Chew, 2020, Human molecular genetics.

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

A. D. den Hollander, C. Hoyng, S. Fauser, 2018, Clinical genetics.

Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.

A. D. den Hollander, C. Hoyng, M. Daha, 2018, Ophthalmology.

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

D. Misceo, C. Gilissen, A. Server, 2020, BMC Medical Genetics.

The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration

A. D. den Hollander, A. Blom, C. Hoyng, 2017, JAMA ophthalmology.

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

C. Gilissen, E. Ullah, J. Corominas, 2023, Genes.

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

J. Estellé, J. Folch, E. Alves, 2015, Genetics Selection Evolution.