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

Kara Pappas

2PUBLICATIONS
2CO-AUTHORS
GenomicsInfant and child health
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:
|Aug 07, 2023
Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.

Emily Farrow, Allison Jay, John Means

|Jan 03, 2022
Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening.

Kara B Pappas, Marissa Younan, Robert Conway

Pageof 1

Frequent Collaborators

1 joint publications

Allison Jay

1 joint publications

Isabelle Thiffault

Frequent Collaborators

1 joint publications

Allison Jay

1 joint publications

Isabelle Thiffault

Top Related Videos

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on : Mar 15, 2019

22.9K
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on : Jun 25, 2010

13.3K
See more related videos

Top Related Videos

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
10:34

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on : Mar 15, 2019

22.9K
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on : Jun 25, 2010

13.3K
See more related videos