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
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
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
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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