Baylor Genetics – ACMG 2017
Phoenix, Arizona
March 22-24, 2017

Booth #611

Oral Presentations:

Abstract #13
RAI1 Overexpression Promotes Disruption of Central Circadian Components and Dyssomnia in Potocki-Lupski Syndrome.
Thursday, March 23, 2017 | 8:00am – 8:15am
Michael Fountain, PhD and Dan Duncan

Abstract #4
New Diagnostic Biomarkers for Peroxisomal Biogenesis Disorder Revealed by Untargeted Metabolomics Profiling Include Significant Reduction of Sphingomyelin, Bile Acid Alterations, and Unique Long Chain Fatty Acids Elevations.
Friday, March 24, 2017 | 9:45am – 10:00am
Recipient of the 2017 David L. Rimoin Inspiring Excellence Award
Leroy Hubert, PhD

Poster Presentations:

Abstract #59
Prominent Orotate Elevation in a Child with Atypical Clinical Presentation of Ornithine Transcarbamylase Deficiency.
Thursday, March 23, 2017 | 10:00am – 11:30am
S. Elsea, K. Pappan, P. Magoulas, Q. Sun, and A. Kennedy

Abstract #99
A Targeted Biochemical Assay for The Diagnosis of 4-Aminobutyric Acid Transaminase (ABAT) Deficiency.
Thursday, March 23, 2017 | 10:00am – 11:30am
T. Donti, R. Huang, K. Bradley, L. Emrick, S. Elsea, L. Pollard, and T. Wood

Abstract #759
Clinical Utility of Whole Exome Sequencing in Accelerating Prenatal Diagnosis in Pregnancies Associated with Familial Risk.
Thursday, March 23, 2017 | 10:00am – 11:30am
A. Dharmadhikari, A. Braxton, S. Narayanan, P. Ward, J. Zhang, W. He, F. Vetrini, J. Beuten, X. Ge, M. Tokita, T. Sim, X. Wang, M. Leduc, L. Meng, P. Liu, R. Xiao, W. Bi, F. Xia, I. Van den Veyver, Y. Yang, C. Eng, and M. Walkiewiczt

Abstract #763
Experience Performing Cell-based Noninvasive Prenatal Testing (NIPT) in a Continuing Series of High and Low Risk Pregnancies.
Thursday, March 23, 2017 | 10:00am – 11:30am
L. Vossaert, A. Breman, J. Chow, L. U'Ren, Q. Wang, X. Zhuo, E. Normand, R. Salman, S. Qdaisat, A. Kim, C. Shaw, D. Henke, E. Chang, R. Seubert, J. Stilwell, E. Kaldjian, Y. Yang, I. Van den Veyver, and A. Beaudet

Abstract #86
Untargeted Metabolomic Phenotyping Distinguishes Drug-Associated Metabolite Elevations and Levers Genotyping Data to Guide Diagnosis of AADC Deficiency.
Friday, March 24, 2017 | 10:30am – 12:00pm
Keren Machol, W. Wilson, and S. Elsea

Abstract #210
Strategy for Cost Efficient Parental Studies Based on a Systematic Evaluation of Copy Number Variations Detected by Chromosomal Microarray Analysis.
Friday, March 24, 2017 | 10:30am – 12:00pm
W. Bi, J. Pham, A. Pursley, C. Shaw, P. Stankiewicz, A. Breman, J. Smith, S. Kang, C. Bacino, S. Lalani, A. Patel, and S. Cheung

Abstract #212
Comprehensive Review of 92 Subjects Reveals a Phenotypic Spectrum and Supports HDAC4 as the Primary Genetic Driver of 2q37 Deletion Syndrome.
Friday, March 24, 2017 | 10:30am – 12:00pm
S. Elsea, T. Le, S. Williams, and J. Alaimo

Abstract #652
Refining Variant Predictions Using Topology Mapping to Identify High Risk Alleles in Whole Exome Sequencing Studies.
Friday, March 24, 2017 | 10:30am – 12:00pm
M. Miller, D. Chen, and Y. Yang