Karlla W. Brigatti
Clinic for Special Children(US)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Genomics and Rare Diseases, Metabolism and Genetic Disorders, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling(2015)330 cited
- → Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes(2020)145 cited
- → Progression of Friedreich ataxia: quantitative characterization over 5 years(2016)135 cited
- → Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder(2021)121 cited
- → A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial(2012)89 cited
- → Frataxin levels in peripheral tissue in Friedreich ataxia(2015)73 cited
- → Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant(2016)60 cited
- → Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions(2017)58 cited
- → Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades(2020)58 cited
- → Genomic diagnostics within a medically underserved population: efficacy and implications(2017)57 cited