Associated Papers
Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome.
Srividhya D et al.
Molecular Syndromology, 2024
Psychiatric and neurological manifestations in adults with Smith-Magenis syndrome: A scoping review.
Korteling D et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2024
Temporal dissection of Rai1 function reveals brain-derived neurotrophic factor as a potential therapeutic target for Smith-Magenis syndrome.
Javed S et al.
Human Molecular Genetics, 2021
A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
Abad C et al.
Biology, 2018
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