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Publications by Andrea L. Gropman
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
IRF2BPL Is Associated With Neurological Phenotypes
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Cover Image, Volume 38, Issue 10
Human Mutation
Genetics
Early Prediction of Phenotypic Severity in Citrullinemia Type 1
Annals of Clinical and Translational Neurology
Neuroscience
Neurology
Advances in Urea Cycle Neuroimaging: Proceedings From the 4th International Symposium on Urea Cycle Disorders, Barcelona, Spain, September 2013
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis
Pediatric Neurology
Child Health
Developmental Neuroscience
Pediatrics
Perinatology
Neurology
Multimodal Imaging in Urea Cycle-Related Neurological Disease – What Can Imaging After Hyperammonemia Teach Us?
Translational Science of Rare Diseases
Brain Biomarkers of Long-Term Outcome of Neonatal Onset Urea Cycle Disorder
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