Miguel Barroso-Gil

4PUBLICATIONS
42CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Medical genetics (excl. cancer genetics)Cancer genetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (4)

Sort by Publication Date:
|Apr 12, 2023
Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.

Sarah Orr, Eric Olinger, Sotia Iosifidou

|Oct 23, 2022
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.

Laura A Devlin, Janice Coles, Claire L Jackson

|Jan 24, 2021
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.

Miguel Barroso-Gil, Eric Olinger, Simon A Ramsbottom

Pageof 1

Frequent Collaborators

4 joint publications

Eric Olinger

4 joint publications

John Andrew Sayer

2 joint publications

Simon A Rock

2 joint publications

Ruxandra Neatu

2 joint publications

Sarah Orr

1 joint publications

Elisa Molinari

1 joint publications

Laura A Devlin

1 joint publications

N Simon Thomas

1 joint publications

James Thompson

1 joint publications

Heather J Cordell

Frequent Collaborators

4 joint publications

Eric Olinger

4 joint publications

John Andrew Sayer

2 joint publications

Simon A Rock

2 joint publications

Ruxandra Neatu

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
Jove
Visualize
Contact Us

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

11.0K
Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on : Feb 03, 2012

38.5K
Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
07:07

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Published on : Feb 21, 2016

10.6K
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

11.0K
Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on : Feb 03, 2012

38.5K
Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
07:07

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Published on : Feb 21, 2016

10.6K
See more related videos