Research Publications

• Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity by Stephen R. Williams, Deborah Zies, Sureni V. Mullegama, Michael S. Grotewiel, and Sarah H. Elsea
• Educational and Occupational Aspirations Among Mothers Caring for a Child with Smith-Magenis Syndrome by Rebecca H. Foster, Surbhi Kanotra, Marilyn Stern and Sarah H. Elsea
• Smith–Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways by Sarah Elsea, PhD, and Stephen R. Williams, PhD
• Practical Genetics: Smith-Magenis Syndrome by Sarah Elsea, PhD, and Santhosh Girirajan, PhD, of VCU
• Pharmacological Treatment of Disruptive Behavior in Smith–Magenis Syndrome by Gonzalo Laje, Rebecca Bernert, Rebecca Morse, Maryland Pao, and Ann C.M. Smith
• Smith-Magenis Syndrome: 2009 by Sarah Elsea, PhD, and Brenda Finucane, MS
• 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)
• Cognitive and Adaptive Behavior Profiles in Smith-Magenis Syndrome by Niru Madduri, MD, Sarika Peters, PhD, Robert Voigt, MD, Antolin Llorente, PhD, James Lupski, MD, PhD, and Lorraine Potocki, MD
• Diagnostic Utility of Daytime Salivary Melatonin Levels in Smith–Magenis Syndrome by Constance L. Chik, Mark D. Rollag, Wallace C. Duncan, and Ann C.M. Smith
• Inverted Rhythm of Melatonin Secretion in Smith–Magenis Syndrome: From Symptoms to Treatment by Helene De Leersnyder
• Autism Spectrum Features in Smith–Magenis Syndrome by Gonzalo Laje, Rebecca Morse, William Richter, Jonathan Ball, Maryland Pao, and Ann C.M. Smith
• Adaptive and Maladaptive Behavior in Children with Smith-Magenis Syndrome by Staci C. Martin, Pamela L. Wolters, and Ann C.M. Smith
• Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models by Guenola Ricard, Jessica Molina, Jacqueline Chrast, Wenli Gu, Nele Gheldof, Sylvain Pradervand, Frederic Schutz, Juan I. Young, James R. Lupski, Alexandre Reymond, and Katherina Walz
• Neurodevelopment of Children Under 3 Years of Age With Smith-Magenis Syndrome by Pamela L. Wolters, PhD, Andrea L. Gropman, MD, Staci C. Martin, PhD, Michaele R. Smith, PT, MEd, Hanna L. Hildenbrand, MS, Carmen C. Brewer, PhD, and Ann C.M. Smith, MA, DSc (Hon)
• Analysis of the Sensory Profile in Children with SMS by Hanna Hildenbrand and Ann C.M. Smith