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American Journal of Medical Genetics. Part A|March 24, 2017
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry studyJenifer Lavigne, Christianne Sharr, Ibrahim Elsharkawi, et al.American Journal of Medical Genetics. Part A|September 9, 2016
Detecting celiac disease in patients with Down syndromeChristianne Sharr, Jenifer Lavigne, Ibrahim M A Elsharkawi, et al.American Journal of Medical Genetics. Part A|August 8, 2015
National down syndrome patient database: Insights from the development of a multi-center registry studyJenifer Lavigne, Christianne Sharr, Al Ozonoff, et al.Journal of Clinical Medicine|November 13, 2021
COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society SurveyDavid Emes, Anke Hüls, Nicole Baumer, et al.Biological Psychiatry|February 13, 2004
Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autismMonica Conciatori, Christopher J Stodgell, Susan L Hyman, et al.Science (New York, N.Y.)|March 17, 2007
Strong association of de novo copy number mutations with autismJonathan Sebat, B Lakshmi, Dheeraj Malhotra, et al.Journal of Medical Genetics|October 12, 2012
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disordersFlore Zufferey, Elliott H Sherr, Noam D Beckmann, et al.Translational Science of Rare Diseases|July 16, 2021
Opportunities, barriers, and recommendations in down syndrome researchJames A Hendrix, Angelika Amon, Leonard Abbeduto, et al.JAMA Psychiatry|December 3, 2015
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical ComorbiditiesDebra D'Angelo, Sébastien Lebon, Qixuan Chen, et al.Nature Neuroscience|March 7, 2017
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorderRyan K C Yuen, Daniele Merico, Matt Bookman, et al.Pageof 6