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List of works by Caroline Meloche

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia

article

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

scientific article published on 12 April 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

Human copy number variants are enriched in regions of low mappability

Human copy number variants are enriched in regions of low mappability

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

scientific article published on 25 March 2011

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