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American College of Medical Genetics and Genomics 2024

All Conferences

Venue

Metro Toronto Convention Center
222 Bremner Blvd, Toronto, ON
M5V 2T6, Canada

Dates

Mar.12 – Mar.16

Booth

1200

Website

American College of Medical Genetics and Genomics 2024

Title Primary Author Type Date / Time / Location
Think Rare: Solving the Undiagnosed Cases Beyond Exome or Genome Sequencing Pengfei Liu Presentation March 13 // 4:00 pm – 5:00 pm (EST) // Meeting Room 701
Preparing for a Genome World | AI and Informatics Automation at the Core. Christine Eng in collaboration with Illumina Presentation March 14 // 11:55 am – 12:25 pm (EST) // Exhibit Theater 2
Title Primary Author Type Date / Time / Location

Detection of Single-Gene Copy Number Variations Through High-Resolution Exon-Targeted Chromosomal Microarray Analysis
 Dr. Matthew Hoi Kin Chau Poster Presentations March 14 // 10:30 am – 12:00 pm (EST) // Exhibit Hall

Novel Presentation of Dextrocardia in TGIF1¬ Holoprosencephaly
 Dr. Casey Thornton Poster Presentations March 14 // 10:30 am – 12:00 pm (EST) // Exhibit Hall

Pathogenic ZIC2 Polyalanine Expansion Detected by Exome Sequencing in a Family with Multi-Generation Holoprosencephaly
 Dr. Nichole Owen Poster Presentations March 14 // 10:30 am – 12:00 pm (EST) // Exhibit Hall

More Than an Extra Chromosome: Unexpected Multiple Diagnoses in Individuals with Down Syndrome
 Dr. Liesbeth Vossaert Poster Presentations March 14 // 10:30 am – 12:00 pm (EST) // Exhibit Hall

PMP22 Single Exon Deletion in a Proband with Hematologic Malignancy and Family History of Charcot-Marie-Tooth Disease
 Dr. Katharina Schulze Poster Presentations March 15 // 10:30 am – 12:00 pm (EST) // Exhibit Hall

Development of a Comprehensive Gene-/Disease-Specific Analysis and Knowledge Base to Enhance the Efficiency and Accuracy of Sequence Variant Interpretation and Clinical Reporting in Baylor Genetics Diagnostic Lab
 Dr. Xi Luo Poster Presentations March 15 // 10:30 am – 12:00 pm (EST) // Exhibit Hall

Phenotype Expansion or Multiple Diagnosis: Experience from Additional Findings in Patients with Common Aneuploidies
 Dr. Xiaonan Zhao Poster Presentations March 15 // 10:30 am – 12:00 pm (EST) // Exhibit Hall

Heterozygous Deletion of Valine at Position 2321 of RYR2 in Two Siblings with Sudden Cardiac Death
 Dr. Eric Kao Poster Presentations March 15 // 10:30 am – 12:00 pm (EST) // Exhibit Hall

Positive Findings in Clinical Mitochondrial Genome Testing by NGS
 Dr. Yue Wang Poster Presentations March 15 // 10:30 am – 12:00 pm (EST) // Exhibit Hall