Publications

Elsea SH, Williams SR. Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways. Expert Rev Mol Med. 2011;13:e14. PMID: 21545756.

Shayota BJ, Elsea SH. Behavior and sleep disturbance in Smith-Magenis syndrome.Curr Opin Psychiatry. 2019;32(2):73-78. PMID: 30557269.

Falco M et al. RAI1 gene mutations: mechanisms of Smith-Magenis syndrome. Appl Clin Genet. 2017;10:85-94. PMID: 29138588.

Poisson A et al. Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder. Int J Mol Sci. 2019;20(14):3533. PMID: 31330985.

Kaplan K et al. Management of Sleep Disturbances Associated with Smith-Magenis Syndrome.CNS Drugs. 2020;34(7):723-730. PMID: 32495322.

Onesimo R et al. Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.Am J Med Genet A. 2021;185(7):2003-2011. PMID: 33811726.

Rive N et al. Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort. Clin Genet. 2021;99(4):519-528. PMID: 33368193.

Agar G et al. Caregivers' experience of sleep management in Smith-Magenis syndrome: a mixed-methods study. Orphanet J Rare Dis. 2022;17(1):35. PMID: 35120534.

Rinaldi B et al. Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.Genes (Basel). 2022;13(2):335. PMID: 35205380.

Smith A et al. Smith-Magenis Syndrome.GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301487.

Parents & Researchers Interested in Smith-Magenis Syndrome.PRISMS. (2023, June 21). http://www.PRISMS.org/

Supporting families who have children and adults with Smith-Magenis syndrome.Smith-Magenis Syndrome Foundation UK. (2023, June 19). https://smith-magenis.org/