Gene Panels for Skeletal Dysplasia and Epilepsy: Maximizing Clinical Utility through Careful Design, Regular Review, and Clinician-Laboratory Collaboration
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Submitter Only - Barbara Utterback, MS, MBA; Presenting Author - Ahmad Abou Tayoun, PhD, FACMG; Co-Author - Swaroop Aradhya; Co-Author - Mitch Bailey; Co-Author - Laila Bastaki, MD; Co-Author - Sara Dosenovic, MD; Co-Author - Fatih Ezgü, MD; Co-Author - Emmanuela Izzo, PhD; Co-Author - Christina Lampe, MD; Co-Author - James J O'Byrne, PhD; Co-Author - Guillermo Seratti, MD; Co-Author - Catherine Snow, PhD; Co-Author - Christian Staufner, MD; Co-Author - Pasquale Striano, MD, PhD;
Meta Tag
Bone/Joint Abnormalities
Counseling
Genetic Testing
Lysosomal Diseases
Methodology
Musculoskeletal system
Co-Author Swaroop Aradhya
Co-Author Mitch Bailey
Co-Author Laila Bastaki, MD
Co-Author Sara Dosenovic, MD
Co-Author Fatih Ezgü, MD
Co-Author Emmanuela Izzo, PhD
Co-Author Christina Lampe, MD
Co-Author James J O'Byrne, PhD
Co-Author Guillermo Seratti, MD
Co-Author Catherine Snow, PhD
Co-Author Christian Staufner, MD
Co-Author Pasquale Striano, MD, PhD
Presenting Author Ahmad Abou Tayoun, PhD, FACMG
Submitter Only Barbara Utterback, MS, MBA
Keywords
gene panels
epilepsy
skeletal dysplasia
clinical utility
standardization
common genetic conditions
rare genetic conditions
orthogonal confirmatory testing methods
collaboration
knowledge sharing

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