Clinical Genetics

Friday, May 3, 2019: 5:30 PM-7:00 PM
Room: 710 (Palais des congres de Montreal)
5:30 PM
39 Bridging the Gap: Access to Genetic Testing in a Community Sample of Individuals with Autism Spectrum Disorder
A. Rouhandeh C. Honsberger M. Mulhern N. Shanok N. Huda E. Brooker Lozott M. Sotelo J. Buxbaum A. Kolevzon S. De Rubeis J. Foss-Feig P. M. Siper
5:30 PM
40 Clinical Phenotype of De Novo Mutations in CHD2
E. Kurtz-Nelson S. Trinh A. S. Wallace E. E. Eichler R. Bernier
5:30 PM
41 Comparative Analysis of ASD Gene Prioritization Strategies
E. Larsen S. Spring-Pearson S. Banerjee-Basu
5:30 PM
42 Contactin-5 Copy-Number Variant Is an Inherited Risk Factor for Autism Spectrum Disorder
Z. Schmilovich G. Huguet Q. He E. A. Douard S. Jacquemont P. A. Dion L. Xiong G. A. Rouleau B. Chaumette
5:30 PM
43 Contribution of Multiple Inherited and Shared Rare Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings
Y. Qiao K. Calli S. Martell S. Race C. Chijiwa A. Glodjo S. Jones S. W. Scherer E. Rajcan-Separovic M. S. Lewis
5:30 PM
45 Diagnostic Whole Exome Sequencing in an Autism Research Population
M. Mulhern S. De Rubeis L. Tang M. P. Trelles A. Kolevzon J. Buxbaum
5:30 PM
46 Diagnostic Yield of Chromosomal Microarray Analysis in Autism Spectrum Disorder
F. Cucinotta A. Ricciardello L. Turriziani M. Briguglio M. Boncoddo F. Bellomo M. Baccarin C. Picinelli P. Castronovo P. Tomaiuolo C. Lintas R. Sacco S. Gabriele M. Canali A. M. Persico
5:30 PM
47 Differences in the Genetic Background Contribute to Risk and Resilience to Autism
T. Rolland T. Bourgeron F. Cliquet A. Mathieu C. Leblond F. Amsellem R. Delorme
5:30 PM
49 Examining the Broader Autism Phenotype in the Context of Genetic Etiology
C. M. Hudac J. Gerdts T. Turner E. E. Eichler R. Bernier
5:30 PM
Habituation to Social Information Is Associated with Repetitive Behavior in 16p11.2 Deletion and Duplication (Withdrawn)
J. S. Beighley C. M. Hudac A. S. Wallace R. Bernier
5:30 PM
51 Identification of Multiple Candidate Variants in a Family with Autism Spectrum Disorder through Whole Genome Sequencing Analysis
M. S. Lewis K. Calli Y. Qiao R. K. Yuen R. M. Stowe S. Martell C. Chijiwa E. Rajcan-Separovic S. W. Scherer
5:30 PM
53 Phenotypic Effects of Loss of Function CNTNAP2 Variants
C. M. Taylor M. Mitchel M. Kinney B. Haas-Givler K. Brigatti M. Young K. Strauss
5:30 PM
57 The Differential Effect of Gene Dosage on Autism Risk and General Intelligence
E. A. Douard C. Schramm A. Zeribi S. Nowak M. P. Poulin-Lord M. Jean Louis M. Auger T. Bourgeron T. Paus Z. Pausova A. Labbe C. Greenwood G. Huguet S. Jacquemont
5:30 PM
58 The Prevalence of Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) in Tuberous Sclerosis Complex (TSC). a Comparison of Prevalence in Patients with TSC1 and TSC2 Mutations.
W. Y. Cheung Y. Shen C. Tye F. S. McEwen L. Underwood E. L. Woodhouse F. Sheerin N. Higgins H. L. Liang E. Shephard J. Yates P. Bolton J. W. Steenbruggen E. Barker
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