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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
Biochemistry
Immunology
Cell Biology
Hematology
A Novel Mutation in the TM6 Domain of GABBR2 Leads to a Rett-Like Phenotype
Annals of Neurology
Neurology
Sodium-Channel Blocker Challenge in the Familial Screening of Brugada Syndrome: Safety and Predictors of Positivity
Heart Rhythm
Cardiovascular Medicine
Physiology
Cardiology
A Robust Statistical Method for Case-Control Association Testing With Copy Number Variation
Nature Genetics
Genetics
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
Comparative Genomic Hybridization: Microarray Design and Data Interpretation
Methods in Molecular Biology
Genetics
Molecular Biology