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Publications by Simone C Yendle

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

Nature Genetics

English

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

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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

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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

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