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Publications by Richard Redon

New Lessons From an Old Gene: Complex Splicing and a Novel Cryptic Exon in VHL Gene Cause Erythrocytosis and VHL Disease

Blood
BiochemistryImmunologyCell BiologyHematology
2018English

A Novel Mutation in the TM6 Domain of GABBR2 Leads to a Rett-Like Phenotype

Annals of Neurology
Neurology
2018English

Sodium-Channel Blocker Challenge in the Familial Screening of Brugada Syndrome: Safety and Predictors of Positivity

Heart Rhythm
Cardiovascular MedicinePhysiologyCardiology
2017English

A Robust Statistical Method for Case-Control Association Testing With Copy Number Variation

Nature Genetics
Genetics
2008English

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated With Autonomic Dysfunction

American Journal of Human Genetics
Genetics
2007English

Comparative Genomic Hybridization: Microarray Design and Data Interpretation

Methods in Molecular Biology
GeneticsMolecular Biology
2009English

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