2020 ACMG Annual Clinical Genetics Meeting Digital Edition Poster Gallery
The 2020 ACMG Annual Clinical Genetics Meeting Poster Gallery is available online. Visit this link to view posters and abstracts. Posters by UDN investigators are listed below.
De Novo Mutations In TOMM70, An Outer Mitochondrial Membrane Translocase Subunit, Causes Developmental Delay And Neurological Phenotypes (L. Briere)
Engaging Patients In Research Through The Participant Engagement And Empowerment Resource (PEER) For The Undiagnosed Diseases Network (E. Kelley)
Genotypic and Phenotypic Diversity in PPP3CA-Associated Neurodevelopmental Disorder (S. Panneerselvam)
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses (K. Schoch)
Appropriate Tissue Type for NGS-Based Sequencing is Crucial for Finding a Diagnosis (R. Spillmann)