David Mowat

3PUBLICATIONS
17CO-AUTHORS
Neurology and neuromuscular diseasesNeurogeneticsGene mapping
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (3)

Sort by Publication Date:
|Nov 11, 2022
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic

|Jul 01, 2018
Genetics of neuromuscular fetal akinesia in the genomics era.

Sarah Jane Beecroft, Marcus Lombard, David Mowat

|Jul 21, 2016
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

Megan H Brewer, Rabia Chaudhry, Jessica Qi

Pageof 1

Frequent Collaborators

1 joint publications

Manoj P Menezes

1 joint publications

Michelle A Farrar

1 joint publications

Sarah Jane Beecroft

1 joint publications

Andrew Paul Fennell

1 joint publications

Samuel Frank Berkovic

1 joint publications

Carolyn Jane Ellaway

1 joint publications

Caitlin Forwood

1 joint publications

Michael Stephen Hildebrand

1 joint publications

Smitha Kumble

1 joint publications

Gemma Poke

Frequent Collaborators

1 joint publications

Manoj P Menezes

1 joint publications

Michelle A Farrar

1 joint publications

Sarah Jane Beecroft

1 joint publications

Andrew Paul Fennell

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

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
10:06

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Published on : Apr 26, 2017

9.0K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

10.5K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

35.0K
See more related videos

Top Related Videos

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
10:06

Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells

Published on : Apr 26, 2017

9.0K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

10.5K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

35.0K
See more related videos