Christine G. Spaeth
Children's Hospital of New Orleans(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, BRCA gene mutations in cancer, Lysosomal Storage Disorders Research, Prenatal Screening and Diagnostics, Fetal and Pediatric Neurological Disorders
Most-Cited Works
- → Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment(2019)125 cited
- → De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy(2015)122 cited
- → Posterior fossa anomalies diagnosed with fetal MRI: Associated anomalies and neurodevelopmental outcomes(2012)52 cited
- → GNAO1‐associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype(2017)43 cited
- → Risk factors associated with long-term prognosis of patients with Staphylococcus aureus bacteremia(2010)36 cited
- → Epilepsy prevalence and severity predictors in MRI-identified focal cortical dysplasia(2017)35 cited
- → Pediatric Epilepsy Surgery(2017)29 cited
- → Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis(2016)16 cited
- → A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy(2015)14 cited
- → Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder(2022)11 cited