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Plos One|August 23, 2011
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletionThierry Vilboux, Carla Ciccone, Jan K Blancato, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 16, 2002
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2)Ann C M Smith, Andrea L Gropman, Joan E Bailey-Wilson, et al.
American Journal of Medical Genetics. Part A|June 17, 2009
Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletionEilis A Boudreau, Kyle P Johnson, Angela R Jackman, et al.
Human Genetics|June 4, 2014
Opposite effects on facial morphology due to gene dosage sensitivityPeter Hammond, Shane McKee, Michael Suttie, et al.
Obesity Research & Clinical Practice|July 10, 2024
Investigation of setmelanotide, an MC4R agonist, for obesity in individuals with Smith-Magenis syndromeJulia Lazareva, Stephanie R Sisley, Sheila M Brady, et al.
American Journal of Medical Genetics. Part A|October 21, 2025
Growth Standards for Children With Smith-Magenis Syndrome (SMS)Julie Hoover-Fong, John McGready, Leah Fleming, et al.
Human Mutation|September 24, 2017
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotypeLi Chen, Philip J Jensik, Joseph T Alaimo, et al.
Genetic Testing|April 1, 2008
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCRHoa T Truong, Sara Solaymani-Kohal, Kevin R Baker, et al.
Human Genetics|February 19, 2017
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variantsSeth I Berger, Carla Ciccone, Karen L Simon, et al.
American Journal of Human Genetics|August 22, 2020
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and EpilepsyJonathan Humbert, Smrithi Salian, Periklis Makrythanasis, et al.
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