P577: Gene panels for skeletal dysplasia and epilepsy: Maximizing clinical utility through careful design, regular review, and clinician-laboratory collaboration

• Ahmad Abou Tayoun,
• Swaroop Aradhya,
• Mitch Bailey,
• Laila Bastaki,
• Sara Dosenovic,
• Fatih Ezgü,
• Emmanuela Izzo,
• Christina Lampe,
• James J. O'Byrne,
• Guillermo Seratti,
• Catherine Snow,
• Christian Staufner,
• Pasquale Striano

Affiliations

Ahmad Abou Tayoun

Al Jalila Children’s Specialty Hospital/Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE

Swaroop Aradhya

Invitae Corporation, San Francisco, CA

Mitch Bailey

BioMarin Pharmaceutical Inc., Novato, CA

Laila Bastaki

Kuwait Medical Genetics Center, Kuwait

Sara Dosenovic

BioMarin Pharmaceutical Inc., Novato, CA

Fatih Ezgü

Gazi University, Ankara, Turkey

Emmanuela Izzo

BioMarin Pharmaceutical Inc., Novato, CA

Christina Lampe

Zentrum für seltene Erkrankungen Gießen, Giessen, Germany

James J. O'Byrne

National Center for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Dublin, Ireland

Guillermo Seratti

BioMarin Pharmaceutical Inc., Novato, CA

Catherine Snow

Genomics England, London, UK

Christian Staufner

Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

Pasquale Striano

IRCCS Istituto Giannina Gaslini, Genoa, Italy