Karlla W. Brigatti

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10

Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes

Kevin A. Strauss, Vincent J. Carson, Kyle Soltys et al. · Molecular Genetics and Metabolism · 2020 · 140 citations · Full text

Metabolic Disorder, Pathology, Metabolic Syndrome +19

Progression of Friedreich ataxia: quantitative characterization over 5 years

Maya Patel, Charles J. Isaacs, Lauren Seyer et al. · Annals of Clinical and Translational Neurology · 2016 · 134 citations · Full text

Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder

Job O. de Jong, Ceyda Llapashtica, Matthieu Genestine et al. · Nature Communications · 2021 · 120 citations · Full text

A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial

David R. Lynch, Steven M. Willi, Robert B. Wilson et al. · Movement Disorders · 2012 · 89 citations