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Publications by Caroline Nava
Deleterious Variation in BRSK2 Associates With a Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
American Journal of Human Genetics
Genetics
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
American Journal of Human Genetics
Genetics
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
American Journal of Human Genetics
Genetics
Correction To: The Landscape of Epilepsy-Related GATOR1 Variants
Genetics in Medicine
Medicine
Genetics
Correction: A Homozygous KAT2B Variant Modulates the Clinical Phenotype of ADD3 Deficiency in Humans and Flies
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A
npj Genomic Medicine
Genetics
Molecular Biology
Delineating the GRIN1 Phenotypic Spectrum
Neurology
Neurology
Cover Image, Volume 39, Issue 1
Human Mutation
Genetics
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