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Publications by Lynette G Sadleir

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

Nature Genetics

English

Ultra-Rare Genetic Variation in Common Epilepsies: A Case-Control Sequencing Study

The Lancet Neurology

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

English

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

English

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

English

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

English

Toward Understanding De Novo Germline Mutations in Mammals

Genes and Genetic Systems

Molecular Biology

English