| Title | Author (BG) | Type | Date / Time / Location |
|
Defining the Pleiotropic GATA2 Deficiency Phenotype for the Development of ACMG-AMP Variant Curation Rules for GATA2 |
Dr. Xi Luo (co-author) |
Platform Presentation // Cancer Genetics and Therapeutics // O11 |
March 15 //
3:30 – 5:00 pm Ballroom ACBD |
|
A Randomized Controlled Trial of Vosoritide in Infants and Toddlers with Achondroplasia |
Dr. Carlos Bacino | Platform Presentation // Clinical Genetics & Therapeutics // O22 | March 16 //
11:00 am – Noon Meeting Room 250 |
|
Case Series: To VUS or Not to VUS? |
Dr. Liesbeth Vossaert |
Platform Presentation // Prenatal Genetics // Prenatal to the Cradle: The Journey of Genetic Testing During Pregnancy |
March 18 //
8:00 – 9:30 am Ballroom ACBD |
ACMG 2023
ACMG 2023
Conference Location
Calvin L. Rampton Salt Palace Convention Center
100 S W Temple St.
Salt Lake City, UT 84101
Conference Dates
Mar. 14 - Mar. 18
Booth Number1207
Conference WebsiteACMG 2023
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| Title | Author (BG) | Type | Date / Time / Location |
|
Rapid genome provides unexpected, highly actionable answer for critically ill patient |
Dr. Hongzheng Dai | Clinical Genetics & Therapeutics // P170 | Exhibit Hall |
|
Compound heterozygosity for loss-of-function variants in GDF1 provides a molecular diagnosis in a patient with Heterotaxy Syndrome |
Dr. Xi Luo |
Clinical Genetics & Therapeutics // P284 |
Exhibit Hall |
|
Biallelic missense NEXN variants lead to recessive severe neonatal cardiomyopathy |
Dr. Casey Thornton |
Laboratory Genetics and Genomics // P573 |
Exhibit Hall |
|
A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome |
Dr. Matthew Chau |
Clinical Genetics & Therapeutics // P439 |
Exhibit Hall |