Gerarda Cappuccio

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.

Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Sphingolipid Metabolism Perturbations in Rett Syndrome.

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.

Mass spectrometry imaging as an emerging tool for studying metabolism in human brain organoids.

Antibody Deficiency in Patients with Biallelic KARS1 Mutations.

Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.

Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome.

De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.

Rigor and reproducibility in human brain organoid research: Where we are and where we need to go.

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.