Associated Papers
Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2022
35833697 (PubMed )
Supplement: supplement_1.pdf
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.
Acquaviva F et al.
American Journal of Medical Genetics. Part A, 2017
RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.
Falco M et al.
The Application of Clinical Genetics, 2017
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Loviglio MN et al.
Genome Medicine, 2016
27799067 (PubMed )
Supplement: 13073_2016_359_MOESM2_ESM.xlsx › Table_S11new
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).
Сhurbanov AY et al.
Plos One, 2016
27082237 (PubMed )
Supplement: pone.0153841.s007.pdf
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.
Thaker VV et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.
Dubourg C et al.
Molecular Syndromology, 2014
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