Research Publications
Basic Research
Histone 3 Lysine 4 Methyl–Enzymes in their Roles in Synaptic Scaling and Gene Expression
By Takao Tsukahara D.D.S., Ph.D, Drs. Iwase and Sutton Laboratories, University of Michigan
Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith–Magenis syndrome
By Ya-Ting Chang, Max Kowalczyk, P. Michelle Forgerson, Yu-Ju Lee, Minza Haque, Eliza L. Adams, David C. Wang, Laura A. DeNardo, Marc Tessier-Lavigne, John R. Huguenard, and Wei-Hsiang Huan
Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome
By Citrine Elatrash 11 USDA/ARS Children’s Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX, Jenna Shi 22 Rice University, Houston, TX, Theresa Wilson 33 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, Sarah H. Elsea 33 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, and Stephanie Sisley 11 USDA/ARS Children’s Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX
Circadian and behavioral differences with Rai1 haploinsufficiency in the setting of hyperphagia-induced weight gain
By Kenyon Agrons, Gracie Hufft, Sarah Elsea, Christopher Ward, and Kathleen McDowell-Takahashi
Relationships between food-related behaviors, obesity, and medication use in individuals with Smith-Magenis syndrome
By Anusha A. Gandhi aa Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA, Theresa A. Wilson aa Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA, Stephanie Sisley bb Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA cc Children’s Nutrition Research Center, Houston, TX 77030, USA, Sarah H. Elsea aa Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA, and Rebecca H. Foster dd Department of Psychology, St. Louis Children’s Hospital, St. Louis, MO 63110, USA ee Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA
Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2)
By Dr. Andrea Gropman, Dr. Wallace Duncan, and Ann C.M. Smith, MA, DSc (Hon)
Behavior and Sleep Disturbance in Smith-Magenis Syndrome
By Brian J Shayota 11 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 22 Texas Children’s Hospital, Houston, TX, USA and Sarah H Elsea 11 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Clinical Care and Management
Smith-Magenis Syndrome GeneReviews
By Ann CM Smith, MA, DSc (hon), CGC, John Berens, MD, FAAP, FACP, Kerry E Boyd, MD, FRCP(C), Christine Brennan, PhD, CCC-SLP, Andrea Gropman, MD, FAAP, FACMG, FANA, FAAN, FCNS, Barbara Haas-Givler, MEd, BCBA, Christopher Vlangos, PhD, FACMG, Rebecca Foster, PhD, Rachel Franciskovich, MS, CGC, Santhosh Girirajan, MBBS, PhD, Nancy Raitano Lee, PhD, Cora Taylor, PhD, Sinan Omer Turnacioglu, MD, and Sarah H Elsea, PhD, FACMG
Speech, Language, Hearing, and Otopathology Results From the International Smith–Magenis Syndrome Patient Registry
By Christine Brennan, Mara Louise Smith, Rachael R. Baiduc, and Liam O’Connor
Auditory Phenotype of Smith-Magenis Syndrome
By Megan Brendal, Kelly King, Christopher Zalewski, Brenda Finucane, Wendy Introne, Carmen Brewer and Ann C M Smith
A Lifespan Developmental Approach to Assessing and Addressing Neurodevelopmental Disorders: A Comprehensive Guide to Meeting Individual and Caregiver Needs
By Rebecca H. Foster, Elliott W. Simon, Elizabeth B. B. Lee, LaNaya Shackelford, and Sarah H. Elsea
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Additional Resources
Medical Management Guidelines