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Publications by Stéphanie Baulac
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
Correction To: The Landscape of Epilepsy-Related GATOR1 Variants
Genetics in Medicine
Medicine
Genetics
Involvement of GATOR Complex Genes in Familial Focal Epilepsies and Focal Cortical Dysplasia
Epilepsia
Neurology
Mild Malformations of Cortical Development in Sleep-Related Hypermotor Epilepsy Due to KCNT1 Mutations
Annals of Clinical and Translational Neurology
Neuroscience
Neurology
NovelGABRG2mutations Cause Familial Febrile Seizures
Neurology: Genetics
Neurology
Genetics
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Preexposure Prophylaxis for Prevention of HIV Acquisition Among Adolescents: Clinical Considerations, 2020
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Sequencing Studies in Human Genetics: Design and Interpretation
Nature Reviews Genetics
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Evolution of Genetic and Genomic Features Unique to the Human Lineage
Nature Reviews Genetics
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Recent Human Adaptation: Genomic Approaches, Interpretation and Insights
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ChIP–seq and Beyond: New and Improved Methodologies to Detect and Characterize Protein–DNA Interactions
Nature Reviews Genetics
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Sex and the Singular DM Domain: Insights Into Sexual Regulation, Evolution and Plasticity
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Putting Gene Essentiality Into Context
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Promoter-Proximal Pausing of RNA Polymerase II: Emerging Roles in Metazoans
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Stress and the Epigenetic Landscape: A Link to the Pathobiology of Human Diseases?
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