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Publications by Molly Weaver

Targeted Resequencing in Epileptic Encephalopathies Identifies De Novo Mutations in CHD2 and SYNGAP1

Nature Genetics

English

Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

English

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Ketogenic Diet in Epileptic Encephalopathies

Epilepsy Research and Treatment

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Neuronal Networks in Epileptic Encephalopathies With CSWS

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Epileptic Encephalopathies – Next Generation Diagnostics

Child Neurology

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De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

American Journal of Human Genetics

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Early-Onset Epileptic Encephalopathy and Severe Developmental Delay in an Association With De Novo Double Mutations in NF1 and MAGEL2

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OC48 Re-Interrogation of Whole Exome Sequencing Data in Developmental Epileptic Encephalopathies

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A Case-Control Collapsing Analysis Identifies Epilepsy Genes Implicated in Trio Sequencing Studies Focused on De Novo Mutations

Molecular Biology

Cancer Research

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A Pedigree-Based Prediction Model Identifies Carriers of Deleterious De Novo Mutations in Families With Li-Fraumeni Syndrome

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Toward Understanding De Novo Germline Mutations in Mammals

Genes and Genetic Systems

Molecular Biology

English