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Publications by Lindsay C. Burrage
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
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation
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
Early Prediction of Phenotypic Severity in Citrullinemia Type 1
Annals of Clinical and Translational Neurology
Neuroscience
Neurology
Recurrent ACADVL Molecular Findings in Individuals With a Positive Newborn Screen for Very Long Chain Acyl-coA Dehydrogenase (VLCAD) Deficiency in the United States
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
GNA11 Brain Somatic Pathogenic Variant in an Individual With Phacomatosis Pigmentovascularis
Neurology: Genetics
Neurology
Genetics
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma
Journal of Pediatrics
Child Health
Pediatrics
Perinatology
De Novo EIF2AK1 and EIF2AK2 Variants Are Associated With Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
