Gerarda Cappuccio

Department of Pediatrics -Neurology, Baylor College of Medicine

Affiliated withBaylor College of Medicine Texas Children's Hospital

Research Area

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 1	2024

Other Publications

Article	Year
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Molecular genetics and metabolism reports\| PubMed ID: 27504266	2016
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. JIMD reports\| PubMed ID: 27900673	2017
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. PloS one\| PubMed ID: 28961260	2017
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. Journal of inherited metabolic disease\| PubMed ID: 30684275	2019
Paralog Studies Augment Gene Discovery: DDX and DHX Genes. American journal of human genetics\| PubMed ID: 31256877	2019
Sphingolipid Metabolism Perturbations in Rett Syndrome. Metabolites\| PubMed ID: 31658741	2019
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. Annals of clinical and translational neurology\| PubMed ID: 31814314	2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications\| PubMed ID: 33004838	2020
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nature communications\| PubMed ID: 33087701	2020
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening. Cellular and molecular life sciences : CMLS\| PubMed ID: 37000222	2023
Mass spectrometry imaging as an emerging tool for studying metabolism in human brain organoids. Frontiers in molecular biosciences\| PubMed ID: 37304070	2023
Antibody Deficiency in Patients with Biallelic KARS1 Mutations. Journal of clinical immunology\| PubMed ID: 37770806	2023
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations. Journal of clinical immunology\| PubMed ID: 37921915	2023
Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome. Stem cell research\| PubMed ID: 38154383	2024
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. Cellular and molecular life sciences : CMLS\| PubMed ID: 38538865	2024
Rigor and reproducibility in human brain organoid research: Where we are and where we need to go. Stem cell reports\| PubMed ID: 38759644	2024
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nature communications\| PubMed ID: 39107278	2024