Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Hallmayer J (2010) A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 19(20):4072–4082. https://doi.org/10.1093/hmg/ddq307

Article  CAS  PubMed  PubMed Central  Google Scholar 

Barfield R, Wang H, Liu Y, Brody JA, Swenson B, Li R, Sofer T (2019) Epigenome-wide association analysis of daytime sleepiness in the Multi-Ethnic Study of Atherosclerosis reveals African-American-specific associations. Sleep. https://doi.org/10.1093/sleep/zsz101

Article  PubMed  PubMed Central  Google Scholar 

Boone PM, Reiter RJ, Glaze DG, Tan D-X, Lupski JR, Potocki L (2011) Abnormal circadian rhythm of melatonin in Smith–Magenis syndrome patients with RAI1 point mutations. Am J Med Genet. https://doi.org/10.1002/ajmg.a.34098

Article  PubMed  Google Scholar 

C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Scherer SW (2017) Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci 20(4):602–611. https://doi.org/10.1038/nn.4524

Article  CAS  PubMed  Google Scholar 

de la Torre-Ubieta L, Won H, Stein JL, Geschwind DH (2016) Advancing the understanding of autism disease mechanisms through genetics. Nat Med 22(4):345–361. https://doi.org/10.1038/nm.4071

Article  CAS  PubMed  PubMed Central  Google Scholar 

Devlin B, Scherer SW (2012) Genetic architecture in autism spectrum disorder. Curr Opin Genet Dev 22(3):229–237. https://doi.org/10.1016/j.gde.2012.03.002

Article  CAS  PubMed  Google Scholar 

Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Elsea SH (2006) Genotype-phenotype correlation in Smith–Magenis syndrome: evidence that multiple genes in 17p112 contribute to the clinical spectrum. Genet Med 8(7):417–427. https://doi.org/10.1097/01.gim.0000228215.32110.89

Article  CAS  PubMed  Google Scholar 

Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Lupski JR (1991) Molecular analysis of the Smith–Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet 49(6):1207–1218

CAS  PubMed  PubMed Central  Google Scholar 

Huang W-H, Wang DC, Allen WE, Klope M, Hu H, Shamloo M, Luo L (2018) Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith–Magenis syndrome. Proc Natl Acad Sci 115(42):10744–10749. https://doi.org/10.1073/pnas.1806796115

Article  CAS  PubMed  PubMed Central  Google Scholar 

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, MacArthur DG (2019) Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes. BioRxiv, 531210. https://doi.org/10.1101/531210

Lahtinen A, Puttonen S, Vanttola P, Viitasalo K, Sulkava S, Pervjakova N, Paunio T (2019) A distinctive DNA methylation pattern in insufficient sleep. Sci Rep 9(1):1193. https://doi.org/10.1038/s41598-018-38009-0

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mainieri G, Montini A, Nicotera A, Di Rosa G, Provini F, Loddo G (2021) The genetics of sleep disorders in children: a narrative review. Brain Sci. https://doi.org/10.3390/brainsci11101259

Article  PubMed  PubMed Central  Google Scholar 

Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, Sham PC (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81(3):559–575. https://doi.org/10.1086/519795

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sakurada K, Konta T, Takahashi S, Murakami N, Sato H, Murakami R, Kayama T (2021) Circadian clock gene polymorphisms and sleep-onset problems in a population-based cohort study: the Yamagata study. Tohoku J Exp Med 255(4):325–331. https://doi.org/10.1620/tjem.255.325

Article  CAS  PubMed  Google Scholar 

Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH (2003) Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet 33(4):466–468. https://doi.org/10.1038/ng1126

Article  CAS  PubMed  Google Scholar 

Smith ACM, Magenis RE, Elsea SH (2005) Overview of Smith–Magenis syndrome. J Assoc Genet Technol 31(4):163–167

PubMed  Google Scholar 

Smith AC, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonona J, Magenis E (1986) Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet 24(3):393–414. https://doi.org/10.1002/ajmg.1320240303

Article  CAS  PubMed  Google Scholar 

Spruyt K, Braam W, Smits M, Curfs LMG (2016) Sleep complaints and the 24-h melatonin level in individuals with Smith–Magenis syndrome: assessment for effective intervention. CNS Neurosci Ther 22(11):928–935. https://doi.org/10.1111/cns.12653

Article  CAS  PubMed  PubMed Central  Google Scholar 

Veatch OJ, Keenan BT, Gehrman PR, Malow BA, Pack AI (2017) Pleiotropic genetic effects influencing sleep and neurological disorders. Lancet Neurol 16(2):158–170. https://doi.org/10.1016/S1474-4422(16)30339-8

Article  PubMed  PubMed Central  Google Scholar 

Wang H, Lane JM, Jones SE, Dashti HS, Ollila HM, Wood AR, Saxena R (2019) Genome-wide association analysis of self-reported daytime sleepiness identifies 42 loci that suggest biological subtypes. Nat Commun 10(1):3503. https://doi.org/10.1038/s41467-019-11456-7

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164–e164. https://doi.org/10.1093/nar/gkq603

Article  CAS  PubMed  PubMed Central  Google Scholar 

Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH (2012) Smith–Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Am J Hum Genet 90(6):941–949. https://doi.org/10.1016/j.ajhg.2012.04.013

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yuen RKC, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, Scherer SW (2015) Whole-genome sequencing of quartet families with autism spectrum disorder. Nat Med 21(2):185–191. https://doi.org/10.1038/nm.3792

Article  CAS  PubMed  Google Scholar