Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Silvia Bonàs-Guarch

10PUBLICATIONS
62CO-AUTHORS
Gene mappingGene expression (incl. microarray and other genome-wide approaches)Medical infection agents (incl. prions)Epigenetics (incl. genome methylation and epigenomics)Other biomedical and clinical sciences not elsewhere classified
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (10)

Sort by Publication Date:
|Mar 26, 2025
Author Correction: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.

Alicia Huerta-Chagoya, Philip Schroeder, Ravi Mandla

|Oct 22, 2024
Publisher Correction: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.

Alicia Huerta-Chagoya, Philip Schroeder, Ravi Mandla

|Oct 17, 2024
Genetic architecture of oral glucose-stimulated insulin release provides biological insights into type 2 diabetes aetiology.

A L Madsen, S Bonàs-Guarch, S Gheibi

|Oct 08, 2024
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.

Alicia Huerta-Chagoya, Philip Schroeder, Ravi Mandla

|Apr 25, 2024
Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function.

Ming Hu, Innah Kim, Ignasi Morán

|Feb 09, 2023
Pancreatic microexons regulate islet function and glucose homeostasis.

Jonàs Juan-Mateu, Simon Bajew, Marta Miret-Cuesta

Pageof 2

Frequent Collaborators

6 joint publications

Josep Maria Mercader

5 joint publications

Jorge Ferrer

4 joint publications

Irene Miguel-Escalada

4 joint publications

Joanne B Cole

4 joint publications

Marta Guindo-Martínez

3 joint publications

Ignasi Moran

3 joint publications

Montserrat Puiggros

3 joint publications

Torben Hansen

3 joint publications

Miriam Udler

3 joint publications

Allan Linneberg

Frequent Collaborators

6 joint publications

Josep Maria Mercader

5 joint publications

Jorge Ferrer

4 joint publications

Irene Miguel-Escalada

4 joint publications

Joanne B Cole

Top Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

10.9K
In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

13.6K
Live Images of GLUT4 Protein Trafficking in Mouse Primary Hypothalamic Neurons Using Deconvolution Microscopy
08:47

Live Images of GLUT4 Protein Trafficking in Mouse Primary Hypothalamic Neurons Using Deconvolution Microscopy

Published on : Dec 07, 2017

9.6K
See more related videos

Top Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

10.9K
In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

13.6K
Live Images of GLUT4 Protein Trafficking in Mouse Primary Hypothalamic Neurons Using Deconvolution Microscopy
08:47

Live Images of GLUT4 Protein Trafficking in Mouse Primary Hypothalamic Neurons Using Deconvolution Microscopy

Published on : Dec 07, 2017

9.6K
See more related videos