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Girirajan S., Vlangos C. N., Szomju B. B., etal. Genotype-phenotype correlation in Smith–Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum (англ.) // Genet. Med.[англ.] : journal. — 2006. — Vol. 8, no. 7. — P. 417—427. — doi:10.1097/01.gim.0000228215.32110.89. — PMID16845274.
Williams S. R., Zies D., Mullegama S. V., etal. Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity (англ.) // Am. J. Hum. Genet.[англ.] : journal. — 2012. — Vol. 90, no. 6. — P. 941—949. — doi:10.1016/j.ajhg.2012.04.013. — PMID22578325. — PMC3370274.
Lupski, James R.; Potocki, Lorraine; Chen, Ken-Shiung; Park, Sung-Sup; Osterholm, Doreen E.; Withers, Marjorie A.; Kimonis, Virginia; Summers, Anne M.; Meschino, Wendy S.; Anyane-Yeboa, Kwame; Kashork, Catherine D.; Shaffer, Lisa G. Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion (англ.) // Nature Genetics : journal. — 2000. — 1 January (vol. 24, no. 1). — P. 84—87. — doi:10.1038/71743. — PMID10615134.
Bi, W; Yan, J; Stankiewicz, P; Park, SS; Walz, K; Boerkoel, CF; Potocki, L; Shaffer, LG; Devriendt, K; Nowaczyk, MJ; Inoue, K; Lupski, J. R. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (англ.) // Genome Research : journal. — 2002. — May (vol. 12, no. 5). — P. 713—728. — doi:10.1101/gr.73702. — PMID11997338. — PMC186594.
De Leersnyder H., De Blois M. C., Claustrat B., etal. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome (англ.) // J Pediatr[англ.] : journal. — 2001. — Vol. 139, no. 1. — P. 111—116. — doi:10.1067/mpd.2001.115018. — PMID11445803.
Shaw, CJ; Withers, MA; Lupski, J. R. Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. (англ.) // American Journal of Human Genetics[англ.] : journal. — 2004. — July (vol. 75, no. 1). — P. 75—81. — doi:10.1086/422016. — PMID15148657. — PMC1182010.
Girirajan S., Vlangos C. N., Szomju B. B., etal. Genotype-phenotype correlation in Smith–Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum (англ.) // Genet. Med.[англ.] : journal. — 2006. — Vol. 8, no. 7. — P. 417—427. — doi:10.1097/01.gim.0000228215.32110.89. — PMID16845274.
Williams S. R., Zies D., Mullegama S. V., etal. Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity (англ.) // Am. J. Hum. Genet.[англ.] : journal. — 2012. — Vol. 90, no. 6. — P. 941—949. — doi:10.1016/j.ajhg.2012.04.013. — PMID22578325. — PMC3370274.
Lupski, James R.; Potocki, Lorraine; Chen, Ken-Shiung; Park, Sung-Sup; Osterholm, Doreen E.; Withers, Marjorie A.; Kimonis, Virginia; Summers, Anne M.; Meschino, Wendy S.; Anyane-Yeboa, Kwame; Kashork, Catherine D.; Shaffer, Lisa G. Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion (англ.) // Nature Genetics : journal. — 2000. — 1 January (vol. 24, no. 1). — P. 84—87. — doi:10.1038/71743. — PMID10615134.
De Leersnyder H., De Blois M. C., Claustrat B., etal. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome (англ.) // J Pediatr[англ.] : journal. — 2001. — Vol. 139, no. 1. — P. 111—116. — doi:10.1067/mpd.2001.115018. — PMID11445803.
Shaw, CJ; Withers, MA; Lupski, J. R. Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. (англ.) // American Journal of Human Genetics[англ.] : journal. — 2004. — July (vol. 75, no. 1). — P. 75—81. — doi:10.1086/422016. — PMID15148657. — PMC1182010.
Girirajan S., Vlangos C. N., Szomju B. B., etal. Genotype-phenotype correlation in Smith–Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum (англ.) // Genet. Med.[англ.] : journal. — 2006. — Vol. 8, no. 7. — P. 417—427. — doi:10.1097/01.gim.0000228215.32110.89. — PMID16845274.
Williams S. R., Zies D., Mullegama S. V., etal. Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity (англ.) // Am. J. Hum. Genet.[англ.] : journal. — 2012. — Vol. 90, no. 6. — P. 941—949. — doi:10.1016/j.ajhg.2012.04.013. — PMID22578325. — PMC3370274.