Sign inJoin waitlistJoin the waitlist

JB

Jennifer Brault

Physician · CMS HIH

Credentials: · · ·

History

CMS HIH · ST VINCENT PED SUBSPECIALTIES
Present

Child Neurology
Indiana University School of Medicine
2007–2014
Indiana University School of Medicine
2002–2006

Research

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Genetics in Medicine · 2021 · 41 citations
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Science Translational Medicine · 2023 · 34 citations
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms
Case report · Molecular Genetics & Genomic Medicine · 2019 · 26 citations

David Weaver
2 papers
Rizwan Hamid
2 papers
Amy Waldman
1 paper
Andrea Seeley
1 paper
Anita Beck
1 paper
Arlene Drack
1 paper
Ashley Moeller
1 paper · 1 as a fellow
Boaz Karmazyn
1 paper
Brett Graham
1 paper
BH
Bryan Hall
1 paper
Camille Corre
1 paper
Camilo Toro
1 paper