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

Merlene Peter

2PUBLICATIONS
9CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurogenetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (2)

Sort by Publication Date:
|Dec 04, 2025
Long-Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy.

Andy Drackley, Merlene Peter, Heba H Akbari

|Apr 04, 2024
Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.

Andy Drackley, Merlene Peter, Pamela Rathbun

Pageof 1

Frequent Collaborators

2 joint publications

Andy Drackley

2 joint publications

Alexander Ing

2 joint publications

Kai Lee Yap

1 joint publications

Pamela Rathbun

1 joint publications

Carlos E Prada

1 joint publications

Heba H Akbari

1 joint publications

Jelena Ivanisevic

1 joint publications

Kelly Regan-Fendt

1 joint publications

Patrick McMullen

Frequent Collaborators

2 joint publications

Andy Drackley

2 joint publications

Alexander Ing

2 joint publications

Kai Lee Yap

1 joint publications

Pamela Rathbun

Top Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

9.0K
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

33.7K
See more related videos

Top Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

9.0K
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

33.7K
See more related videos