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

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

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

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