Research & Literature

Dermatologic features of Smith-Magenis syndrome.

Guérin-Moreau M, Colin E, Nguyen S, et al.

Pediatric dermatology 2015; (32(3)):337-41 doi:10.1111/pde.12517.

Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature.

Li Z, Shen J, Liang J, Sheng L

Medicine 2015; (94(17)):e705 doi:10.1097/MD.0000000000000705.

[Smith-Magenis syndrome is an association of behavioral and sleep/wake circadian rhythm disorders].

Poisson A, Nicolas A, Sanlaville D, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2015; (22(6)):638-45.

Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.

Alaimo JT, Barton LV, Mullegama SV, et al.

Research in developmental disabilities 2015; (47()):27-38.

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.

Poisson A, Nicolas A, Cochat P, et al.

Orphanet journal of rare diseases 2015; (10()):111 doi:10.1186/s13023-015-0330-x.

Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.

Chen L, Mullegama SV, Alaimo JT, Elsea SH

Developmental period medicine 2015; (19(2)):149-56.

Smith-Magenis Syndrome: Face Speaks.

Gupta R, Gupta N, Nampoothiri S, et al.

Indian journal of pediatrics 2016; (83(6)):589-93 doi:10.1007/s12098-015-1940-y.

First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview.

Nijim Y, Adawi A, Bisharat B, Bowirrat A

Medicine 2016; (95(3)):e2362 doi:10.1097/MD.0000000000002362.

Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome.

Wilde L, Mitchell A, Oliver C

Journal of autism and developmental disorders 2016; (46(6)):2148-2159 doi:10.1007/s10803-016-2743-3.

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

Yeetong P, Vilboux T, Ciccone C, et al.

American journal of medical genetics. Part A 2016; (170(9)):2383-8 doi:10.1002/ajmg.a.37602.

Smith-Magenis Syndrome and Social Security Administration's Compassionate Allowances Initiative: An Evaluative Review of the Literature.

Burke SL, Maramaldi P

Intellectual and developmental disabilities 2016; (54(4)):273-84 doi:10.1352/1934-9556-54.4.273.

Non-invasive ventilation for sleep-disordered breathing in Smith-Magenis syndrome.

Connor V, Zhao S, Angus R

BMJ case reports 2016; (2016()).

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes.

Neira-Fresneda J, Potocki L

Journal of pediatric genetics 2015; (4(3)):159-67 doi:10.1055/s-0035-1564443.

Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene.

Dardour L, Verleyen P, Lesage K, et al.

European journal of medical genetics 2016; (59(10)):499-501.

Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome.

Huang WH, Guenthner CJ, Xu J, et al.

Neuron 2016; (92(2)):392-406 doi:10.1016/j.neuron.2016.09.019.

Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects.

Lei TY, Li R, Fu F, et al.

Taiwanese journal of obstetrics & gynecology 2016; (55(6)):886-890 doi:10.1016/j.tjog.2015.07.007.

Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.

Perkins T, Rosenberg JM, Le Coz C, et al.

The journal of allergy and clinical immunology. In practice 2017; (5(5)):1344-1350.e3 doi:10.1016/j.jaip.2017.01.028.

Auditory Phenotype of Smith-Magenis Syndrome.

Brendal MA, King KA, Zalewski CK, et al.

Journal of speech, language, and hearing research : JSLHR 2017; (60(4)):1076-1087 doi:10.1044/2016_JSLHR-H-16-0024.

RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome.

Mullegama SV, Alaimo JT, Fountain MD, et al.

Journal of pediatric genetics 2017; (6(3)):155-164 doi:10.1055/s-0037-1599147.

RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

Falco M, Amabile S, Acquaviva F

The application of clinical genetics 2017; (10()):85-94 doi:10.2147/TACG.S128455.

Functional analysis and treatment of problem behavior related to mands for rearrangement.

Torres-Viso M, Strohmeier CW, Zarcone JR

Journal of applied behavior analysis 2018; (51(1)):158-165 doi:10.1002/jaba.437.

A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex.

Trickett J, Heald M, Oliver C, Richards C

Journal of neurodevelopmental disorders 2018; (10(1)):9 doi:10.1186/s11689-018-9226-0.

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome.

Altieri F, Turco EM, Vinci E, et al.

Stem cell research 2018; (28()):153-156 doi:10.1016/j.scr.2018.02.016.

Using a Functional Analysis Followed by Differential Reinforcement and Extinction to Reduce Challenging Behaviors in Children With Smith-Magenis Syndrome.

Hodnett J, Scheithauer M, Call NA, et al.

American journal on intellectual and developmental disabilities 2018; (123(6)):558-573 doi:10.1352/1944-7558-123.6.558.

Behavior and sleep disturbance in Smith-Magenis syndrome.

Shayota BJ, Elsea SH

Current opinion in psychiatry 2019; (32(2)):73-78 doi:10.1097/YCO.0000000000000474.

Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorder.

Smith ACM, Morse RS, Introne W, Duncan WC

American journal of medical genetics. Part A 2019; (179(2)):224-236 doi:10.1002/ajmg.a.61003.

Parental experiences with behavioural problems in Smith-Magenis syndrome: The need for syndrome-specific competence.

Nag HE, Hoxmark LB, Nærland T

Journal of intellectual disabilities : JOID 2019; (23(3)):359-372 doi:10.1177/1744629519847375.

Sleep in children with Smith-Magenis syndrome: a case-control actigraphy study.

Trickett J, Oliver C, Heald M, et al.

Sleep 2020; (43(4)) doi:10.1093/sleep/zsz260.

Management of Sleep Disturbances Associated with Smith-Magenis Syndrome.

Kaplan KA, Elsea SH, Potocki L

CNS drugs 2020; (34(7)):723-730 doi:10.1007/s40263-020-00733-5.

Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith-Magenis syndrome and external genital defects.

Zhang P, Sun Y, Tian H, et al.

Journal of genetics 2020; (99()).

Adrenocorticotropic Hormone Therapy Improved Spasms and Sleep Disturbance in Smith-Magenis Syndrome: A Case Report.

Momosaki K, Kido J, Matsumoto S, et al.

Pediatric reports 2020; (12(3)):72-76 doi:10.3390/pediatric12030018.

First-trimester cystic hygroma and neurodevelopmental disorders: The association to remember.

Pan M, Liu YN, Xu LL, Li DZ

Taiwanese journal of obstetrics & gynecology 2020; (59(6)):960-962 doi:10.1016/j.tjog.2020.09.029.

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.

Rive Le Gouard N, Jacquinet A, Ruaud L, et al.

Clinical genetics 2021; (99(4)):519-528 doi:10.1111/cge.13906.

Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile.

Agar G, Brown C, Sutherland D, et al.

Molecular autism 2021; (12(1)):18 doi:10.1186/s13229-021-00426-w.

Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.

Onesimo R, Versacci P, Delogu AB, et al.

American journal of medical genetics. Part A 2021; (185(7)):2003-2011 doi:10.1002/ajmg.a.62196.

Tasimelteon safely and effectively improves sleep in Smith-Magenis syndrome: a double-blind randomized trial followed by an open-label extension.

Polymeropoulos CM, Brooks J, Czeisler EL, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(12)):2426-2432 doi:10.1038/s41436-021-01282-y.

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith-Magenis and Potocki-Lupski Syndromes in Fetuses.

Cai M, Fu X, Xu L, et al.

Frontiers in genetics 2021; (12()):779237 doi:10.3389/fgene.2021.779237.

Caregivers' experience of sleep management in Smith-Magenis syndrome: a mixed-methods study.

Agar G, Bissell S, Wilde L, et al.

Orphanet journal of rare diseases 2022; (17(1)):35 doi:10.1186/s13023-021-02159-8.

Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.

Rinaldi B, Villa R, Sironi A, et al.

Genes 2022; (13(2)) doi:10.3390/genes13020335.

Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.

Onesimo R, Delogu AB, Blandino R, et al.

American journal of medical genetics. Part A 2022; (188(7)):2184-2186 doi:10.1002/ajmg.a.62740.

Sleep disturbances and behavior in Smith-Magenis syndrome.

Garayzábal E, Hidalgo I, Miranda de Souza ALD, et al.

Research in developmental disabilities 2022; (128()):104286 doi:10.1016/j.ridd.2022.104286.

A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.

Vocke CD, Fleming LR, Piskorski AM, et al.

American journal of medical genetics. Part A 2023; (191(2)):490-497 doi:10.1002/ajmg.a.63049.

Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support.

Jenner L, Richards C, Howard R, Moss J

Current developmental disorders reports 2023; (10(2)):132-146 doi:10.1007/s40474-023-00276-6.

Psychiatric and neurological manifestations in adults with Smith-Magenis syndrome: A scoping review.

Korteling D, Musch JLI, Zinkstok JR, Boot E

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2024; (195(2)):e32956 doi:10.1002/ajmg.b.32956.

Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.

Linders CC, van Eeghen AM, Zinkstok JR, et al.

Genes 2023; (14(8)) doi:10.3390/genes14081514.

[Expert consensus on the diagnosis and management of Birt-Hogg-Dubé syndrome].

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Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases 2023; (46(9)):897-908 doi:10.3760/cma.j.cn112147-20230705-00362.

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.

Cipolla C, Sessa L, Rotunno G, et al.

Children (Basel, Switzerland) 2023; (10(9)) doi:10.3390/children10091451.

The developmental trajectory of sleep in children with Smith-Magenis syndrome compared to typically developing peers: a 3-year follow-up study.

Agar G, Oliver C, Spiller J, Richards C

Sleep advances : a journal of the Sleep Research Society 2023; (4(1)):zpad034 doi:10.1093/sleepadvances/zpad034.

Smith-Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling.

Javed S, Chang YT, Cho Y, et al.

eLife 2023; (12()).

Speech, Language, Hearing, and Otopathology Results From the International Smith-Magenis Syndrome Patient Registry.

Brennan C, Smith ML, Baiduc RR, O'Connor L

Journal of speech, language, and hearing research : JSLHR 2024; (67(3)):917-938 doi:10.1044/2023_JSLHR-23-00179.

Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome.

Elatrash C, Shi J, Wilson T, et al.

Genetics in medicine open 2024; (2()) doi:10.1016/j.gimo.2024.101857.

Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome.

Proli F, Sforza E, Faragalli A, et al.

European journal of pediatrics 2024; (183(10)):4563-4571 doi:10.1007/s00431-024-05715-z.

Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region.

Giovenale AMG, Turco EM, Mazzoni M, et al.

Stem cell research 2024; (81()):103544 doi:10.1016/j.scr.2024.103544.

Chronic Hypercapnic Respiratory Failure in a Patient With Smith-Magenis Syndrome: A Case Report.

Alhaj Ali Q, May I, Chakraborty D, Tey CL

Cureus 2024; (16(11)):e72980 doi:10.7759/cureus.72980.

Smith-Magenis syndrome with Dandy-Walker malformation in a 2-year-old girl: A case report.

Zhu WT, Jiang LX, Ma YM, et al.

The Journal of international medical research 2025; (53(1)):3000605241310844 doi:10.1177/03000605241310844.

Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation.

Giovenale AMG, Turco EM, Ferrone I, et al.

Stem cell research 2025; (86()):103726 doi:10.1016/j.scr.2025.103726.

Deletion of RAI1 noncoding exons 1-2 causes Smith-Magenis syndrome.

Hamiel U, Kurolap A, Gadot CC, et al.

Journal of genetics 2025; (104()).

Retinoic Acid Induced 1 and Smith-Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies.

Covarelli J, Vinciarelli E, Mirarchi A, et al.

International journal of molecular sciences 2025; (26(14)) doi:10.3390/ijms26146667.

Clinical, Sleep, and Chronobiological Characteristics of Children with Smith-Magenis Syndrome Under Treatment for Sleep Disorders.

Comajuan M, Guyon A, Raverot V, et al.

Children (Basel, Switzerland) 2025; (12(11)) doi:10.3390/children12111471.

Empowering through structured boundaries: an integral model for fostering balanced eating and nutritional well-being.

Elatrash C, Macke C, Shi J, et al.

Journal of rare diseases (Berlin, Germany) 2026; (5(1)):2 doi:10.1007/s44162-025-00145-3.

A Clinical Practice Example of Smith-Magenis Syndrome in the Neuropediatric Clinic: Etiology, Clinical Presentation, Diagnostics and Therapeutic Approaches-A Case Report.

Shevchenko O

Children (Basel, Switzerland) 2026; (13(2)) doi:10.3390/children13020179.

FLCN-Mutated Tumors in Smith-Magenis Syndrome: A Case Report of FLCN-Associated Pathogenesis.

Pichette É, Shahini A, Kailasam S, et al.

International journal of surgical pathology 2026; (34(5)):1303-1309 doi:10.1177/10668969251415520.

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome.

Braam W, Smith ACM

American journal of medical genetics. Part A 2026; (200(10)):2260-2272 doi:10.1002/ajmg.a.70167.

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith-Magenis Syndrome.

Blanc A, Nemos C, Bonnet C, et al.

American journal of medical genetics. Part A 2026; (200(10)):2320-2330 doi:10.1002/ajmg.a.70205.

The prevalence of neurodevelopmental disorders in Smith-Magenis Syndrome: a PRISMA compliant systematic review.

Boiroux P, Babinet MN, Chesnoy G, et al.

Journal of neurodevelopmental disorders 2026; (18(1)).

From Behavioral and Sleep Disturbances to Genetic Diagnosis: Smith-Magenis Syndrome and the Importance of the Diagnostic Pathway.

Kılıçaslan F, Çetin ARO, Öz Ö, et al.

Developmental neurobiology 2026; (86(3)):e70051 doi:10.1002/dneu.70051.