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Publications by Stanislas Lyonnet

High-Throughput Sequencing of a 4.1 Mb Linkage Interval Reveals FLVCR2 Deletions and Mutations in Lethal Cerebral Vasculopathy

English

Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-Utr Affect Frataxin Expression in Friedreich Ataxia

Multidisciplinary

English

PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome

American Journal of Human Genetics

English

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

American Journal of Human Genetics

English

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

English

GeneRetriever: Software to Extract All Genes and Transcripts in Between Two Genetic Markers to Assist Design of Human Custom Microarrays

Molecular Biology

English