Genetics in Medicine Open (Jan 2023)
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
- Journal volume & issue
-
Vol. 1,
no. 1
p. 100624