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Publications by Annapurna Poduri
Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome With Primary Microcephaly
Nature Genetics
Genetics
Ultra-Rare Genetic Variation in Common Epilepsies: A Case-Control Sequencing Study
The Lancet Neurology
Neurology
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
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
Altered Inhibition in Tuberous Sclerosis and Type IIb Cortical Dysplasia
Annals of Neurology
Neurology
Correction To: The Landscape of Epilepsy-Related GATOR1 Variants
Genetics in Medicine
Medicine
Genetics
A Case-Control Collapsing Analysis Identifies Epilepsy Genes Implicated in Trio Sequencing Studies Focused on De Novo Mutations
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Homozygous PLCB1 Deletion Associated With Malignant Migrating Partial Seizures in Infancy
Epilepsia
Neurology
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