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ACMG 2019

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
2022 ACMG Meeting Request
Attending the ACMG 2022 in Nashville? Complete the form below to schedule a meeting with one of our sales team members to discuss how Baylor Genetics can meet your genetic testing needs.
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
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