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Publications by Laurence Faivre
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3
Cell Stem Cell
Molecular Medicine
Genetics
Cell Biology
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
American Journal of Human Genetics
Genetics
HNRNPR Variants That Impair Homeobox Gene Expression Drive Developmental Disorders in Humans
American Journal of Human Genetics
Genetics
Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
American Journal of Human Genetics
Genetics
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
American Journal of Human Genetics
Genetics
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
Correction To: The Landscape of Epilepsy-Related GATOR1 Variants
Genetics in Medicine
Medicine
Genetics
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