Jennifer Brault

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke et al. · Genetics in Medicine · 2020 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Frédéric Ebstein, Sébastien Küry, Victoria Most et al. · Science Translational Medicine · 2023 · 36 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Whole genome sequencing reveals novel <i>IGHMBP2</i> variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

Thomas Cassini, Laura Duncan, Lynette Rives et al. · Molecular Genetics & Genomic Medicine · 2019 · 28 citations · Full text

Life Sciences, Genetics, Neurology +17

Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies

Stephanie Keller, Eric J. Mallack, Jennifer Rubin et al. · Journal of Child Neurology · 2020 · 24 citations · Full text

Medicine, Neurology, Pediatrics +16

A novel, likely pathogenic variant in <i>UBTF</i>‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype

Rory J. Tinker, Tiffany Guess, David C. Rinker et al. · Molecular Genetics & Genomic Medicine · 2022 · 15 citations · Full text

Life Sciences, Genetics, Neuroscience +17