James Liu

2PUBLICATIONS
12CO-AUTHORS
Gene mappingNeurology and neuromuscular diseases
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:
|Jun 22, 2026
Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss.

|Sep 21, 2023
<i>PNPLA6</i> disorders: what's in a name?

James Liu, Robert B Hufnagel

Pageof 1

Frequent Collaborators

1 joint publications

Sebastian Vishnopolska

1 joint publications

Maria Andrea Camilletti

1 joint publications

Julian Martinez Mayer

1 joint publications

Lucia Iglesias Garcia

1 joint publications

Michelle Brinkmeier

1 joint publications

Elisa Vaiani

1 joint publications

Sofia Hebe Vidal

1 joint publications

Marta Ciaccio

1 joint publications

Alicia Belgorosky

1 joint publications

Marcelo Marti

Frequent Collaborators

1 joint publications

Sebastian Vishnopolska

1 joint publications

Maria Andrea Camilletti

1 joint publications

Julian Martinez Mayer

1 joint publications

Lucia Iglesias Garcia

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