Title |
Author |
Type / Poster # |
Date / Time / Location |
|
| 1 | Variants unmasked by recurrent deletions improve variant interpretation and genotype-phenotype correlation | Bo Yuan, Ph.D. | POSTER TALK // #741 Laboratory Genetics and Genomics |
Apr. 4 11:15 am – 11:45 am Exhibit Hall // Learning Lounge #1 |
| 2 | Clinical Validation of Whole Genome Sequencing | Pengfei Liu, Ph.D. | EXHIBIT THEATER // #2 Laboratory Genetics and Genomics |
Apr. 5 11:20 am – 11:50 am Exhibit Hall // Theater #2 |
| 3 | Cardinal Signs of HDAC4-Related Disorders | Sarah Elsea, Ph.D., FACMG | SCIENTIFIC SESSION // Cardinal Signs of Common and Uncommon Disorders |
Apr. 5 1:50 pm – 2:10 pm Washington State Convention Center Room 6E |
| 4 | Broad-Scale Untargeted Metabolomic Profiling as an Initial Approach to Clinical Diagnosis of Inborn Errors of Metabolism | Ning Liu, Ph.D. | PLATFORM PRESENTATION // #33 Biochemical and Metabolic Genetics |
Apr. 5 5:15 pm – 5:30 pm Washington State Convention Center Room 6C |
ACMG 2019
Conference Location
Washington State Convention Center
705 Pike St
Seattle, WA 98101
Conference Dates
Apr. 3 - Apr. 5
Booth Number
621
Conference WebsiteACMG 2019
MEETING REQUEST
Title |
Author |
Type / Poster # |
Date / Time / Location |
|
| 1 | Exome reanalysis by leveraging human phenotype ontology terms. | Rajarshi Ghosh, Ph.D. | POSTER // #741 Laboratory Genetics and Genomics |
Apr. 4 10:00 am – 11:30 am Exhibit Hall |
| 2 | Clinical utility of non-invasive prenatal screening for common dominant single gene disorders | Ye Cao, Ph.D. | POSTER // #885 Laboratory Genetics and Genomics |
Apr. 4 11:15 am – 11:45 am Exhibit Hall |
| 3 | Liver Transplant: Promising Therapeutic Approach for Patients with Ethylmalonic Encephalopathy | Noura Aldhaheri, MBBS | POSTER // #163 Biochemical and Metabolic Genetics |
Apr. 4 TBD Exhibit Hall |
| 4 | CLTRN Deletion Mimicking Biochemical Features of Hartnup’s Disease | Nishitha Pillai, M.D. | POSTER // #131 Biochemical and Metabolic Genetics |
Apr. 4 TBD Exhibit Hall |
| 5 | Diagnosis of HSD10 Disease in a Female Patient with Developmental Regression: Role of Clinical Metabolomics | Anjali Aggarwal, M.D. | POSTER // #152 Biochemical and Metabolic Genetics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 6 | Novel Treatment of an Autosomal Recessive Leigh Syndrome Caused by Short-Chain Enoyl-CoA Hydratase Deficiency | Brian Shayota, M.D. | POSTER // #160 Biochemical and Metabolic Genetics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 7 | TOP RATED POSTER De novo missense variants in GARS cause severe early-onset Spinal Muscular Atrophy — Implications for diagnosis and treatment | Rajarshi Ghosh, Ph.D. | POSTER // #258 Clinical Genetics and Therapeutics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 8 | De novo loss-of-function and missense variants in SUZ12 cause two distinct autosomal dominant neurodevelopmental disorders with or without overgrowth | Charul Gijavanekar, Ph.D. | POSTER // #340 Clinical Genetics and Therapeutics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 9 | TOP RATED POSTER Variants unmasked by recurrent deletions improve variant interpretation and genotype-phenotype correlation | Bo Yuan, Ph.D. | POSTER // #660 Laboratory Genetics and Genomics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 10 | Clinical applications of NGS panels and exome on patients with hematologic and primary immune disorders | Linyan Meng, Ph.D. | POSTER // #672 Laboratory Genetics and Genomics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 11 | Experience and Challenges of Variant Classification of the DMD Gene in Reproductive Carrier Testing | Hanyin Cheng, Ph.D. | POSTER // #690 Laboratory Genetics and Genomics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 12 | The incorporation of CYP21A2 to a multi-gene carrier screening panel: analytical comparison of different molecular methodologies | Blake Atwood, Ph.D. | POSTER // #716 Laboratory Genetics and Genomics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 13 | A common pan-ethnic exonic deletion in TBCK gene causes early onset hypotonia and psychomotor retardation identified through clinical exome sequencing | Hongzheng Dai, Ph.D. | POSTER // #800 Laboratory Genetics and Genomics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 14 | Challenges and considerations of variant classification for dominant monogenic Mendelian conditions in the setting of non-invasive prenatal screening test. | Shen Gu, Ph.D. | POSTER // #884 Prenatal Genetics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
| 15 | Full gene sequencing based expanded carrier screening of over 150 disorders at Baylor Genetics | Shu Wen, Ph.D. | POSTER // #916 Prenatal Genetics |
Apr. 5 10:30 am – 12:00 pm Exhibit Hall |
Join our experts at booth #621 for a brief information session followed by an opportunity for Q&A.
Title |
Author |
Date / Time / Location |
|
| 1 | Mitochondrial Disease | Sandra Peacock, MS, CGC | Apr. 4 9:30 am – 10:30 am Exhibit Hall |
| 2 | PreSeekTM, Noninvasive Prenatal Sequencing Screen | Hongzheng Dai, Ph.D. | Apr. 4 10:30 am – 11:30 am Exhibit Hall |
| 4 | Rapid Exome (Critical/Prenatal) | Linyan Meng, Ph.D. | Apr. 4 11:30 am – 12:30 pm Exhibit Hall |
| 3 | GeneAware, Reproductive Carrier Screen | Jennifer Scull, Ph.D. | Apr. 4 12:30 pm – 1:30 pm Exhibit Hall |
| 5 | Whole Genome Sequencing (WGS) | Bo Yuan, Ph.D. | Apr. 4 1:30 pm – 2:30 pm Exhibit Hall |
| 6 | ClariFindTM, Comprehensive Somatic Tumor Testing | Pengfei Liu, Ph.D. | Apr. 4 2:30 pm – 3:30 pm Exhibit Hall |
| 7 | Global MAPSTM, Metabolomic Assisted Pathway Screen | Sarah Elsea, Ph.D. | Apr. 4 3:30 pm – 4:30 pm Exhibit Hall |
| 8 | PreSeekTM, Noninvasive Prenatal Sequencing Screen | Hongzheng Dai, Ph.D. | Apr. 4 4:30 pm – 5:30 pm Exhibit Hall |
| 9 | Consultagene, online platform for educational resources, genetic counseling and genetic services | Pilar Magoulas, MS, CGC | Apr. 5 9:30 am – 10:30 am Exhibit Hall |
| 10 | GeneAware, Reproductive Carrier Screen | Jennifer Scull, Ph.D. | Apr. 5 10:30 am – 11:30 am Exhibit Hall |
| 11 | Rapid Exome (Critical/Prenatal) | Linyan Meng, Ph.D. | Apr. 5 11:30 am – 12:30 pm Exhibit Hall |
| 12 | Whole Genome Sequencing (WGS) | Bo Yuan, Ph.D. | Apr. 5 12:30 pm – 1:30 pm Exhibit Hall |
| 13 | ClariFindTM, Comprehensive Somatic Tumor Testing | Pengfei Liu, Ph.D. | Apr. 5 1:30 pm – 2:30 pm Exhibit Hall |