Research Publications

• 2022 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 Huang
• 2021 Temporal dissection of Rai1 function reveals brain-derived neurotrophic factor as a potential therapeutic target for Smith–Magenis syndrome by Sehrish Javed, Yu-Ju Lee1, Jin Xu and Wei-Hsiang Huang
• 2017 Smith-Magenis Syndrome patients often display Antibody Deficiency, but not other immune pathologies by Tiffany Perkins, Jacob Rosenberg, Carole Le Coz, Joseph Alaimo, Melissa Trofa, Sureni Mullegama, Richard Antaya, Soma Jyonouchi, Sarah Elsea, Paul Utz, Eric Meffre and Neil Romberg
• 2016 Molecular and Nuclear functions of RAI1, the causal gene for Smith-Magenis Syndrome by Wei-Hsiang Huang, Casey Guenthner, Jin Xu, Tiffany Nguyen, Lindsay Schwarz, Alex Wilkinson, Or Gozani, Howard Chang, Mehrdad Shamloo and Liqun Luo
• 2013 A Phylogenetic Study of SPBP and RAI1: Evolutionary Conservation of Chromatin Binding Modules by Sagar Darvekar, Cecilie Rekdal, Terje Johansen, Eva Sjøttem
• 2013 Rapid and Inexpensive Screening of Genomic Copy Number Variations Using a Novel Quantitative Fluorescent PCR Method by Martin Stofanko, Joan C. Han, Sarah H. Elsea, Heloísa B. Pena, Higgor Gonçalves-Dornelas, and Sérgio Danilo Junho Pena
• 2012 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
• 2012 Analysis of the Sensory Profile in Children with SMS by Hanna Hildenbrand and Ann C.M. Smith
• 2011 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
• 2010 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
• 2009 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
• 2006 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)

• 2017 Auditory Phenotype of Smith-Magenis Syndrome by Megan Brendal, Kelly King, Christopher Zalewski, Brenda Finucane, Wendy Introne, Carmen Brewer and Ann C M Smith – Clinical Care and Management
• 2015 Smith-Magenis Syndrome and its cirdacian influence on development, behavior, and obesity – own experience by Li Chen, Sureni Mullegama, Joseph Alaimo, and Sarah Elsea
• 2015 Behavioral disturbances and treatment strategies in Smith-Magenis Syndrome by Alice Poisson, Alain Nicolas, Pierre Cochat, Damien Sanlaville, Caroline Rigard, Helene de Leersnyder, Patricia Franco, Vincent Des Portes, Patrick Edery, and Caroline Demily
• 2015 Individuals with Smith-Magenis Syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome by Joseph Alaimo, Laura Barton, Rachel Wills, Sureni Mullegama, Rebecca Foster and Sarah Elsea
• 2013 The Nature of Social Preference and Interactions in Smith–Magenis Syndrome by Lucy Wilde, Daniel Silva, Chris Oliver
• 2013 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
• 2011 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
• 2010 Pharmacological Treatment of Disruptive Behavior in Smith–Magenis Syndrome by Gonzalo Laje, Rebecca Bernert, Rebecca Morse, Maryland Pao, and Ann C.M. Smith by Gonzalo Laje, Rebecca Bernert, Rebecca Morse, Maryland Pao, and Ann C.M. Smith
• 2010 Autism Spectrum Features in Smith–Magenis Syndrome by Gonzalo Laje, Rebecca Morse, William Richter, Jonathan Ball, Maryland Pao, and Ann C.M. Smith
• 2009 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)
• 2009 Smith-Magenis Syndrome by Sarah Elsea, PhD, and Brenda Finucane, MS
• 2008 Practical Genetics: Smith-Magenis Syndrome by Sarah Elsea, PhD, and Santhosh Girirajan, PhD, of VCU
• 2006 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
• 2006 Inverted Rhythm of Melatonin Secretion in Smith–Magenis Syndrome: From Symptoms to Treatment by Helene De Leersnyder
• 2006 Adaptive and Maladaptive Behavior in Children with Smith-Magenis Syndrome by Staci C. Martin, Pamela L. Wolters, and Ann C.M. Smith