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Publications by Camilo Toro
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
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial M-Aaa Proteases
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Neurologic Involvement in Patients With Atypical Chediak-Higashi Disease
Neurology
Neurology
Cover Image, Volume 38, Issue 10
Human Mutation
Genetics
Late Diagnosis and Atypical Brain Imaging of Aicardi-Goutières Syndrome: Are We Failing to Diagnose Aicardi-Goutières Syndrome-2?
Developmental Medicine and Child Neurology
Child Health
Developmental Neuroscience
Pediatrics
Perinatology
Neurology
