P585: Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome

• Ting Wen,
• Hayley Reynolds,
• Andrew Farrell,
• Barry Moore,
• Steven Boyden,
• Thomas Nicholas,
• Shawn Rynearson,
• Carson Holt,
• Christine Miller,
• Katherine Noble,
• Dawn Bentley,
• Rachel Palmquist,
• Betsy Ostrander,
• Stephanie Manberg,
• Joshua Bonkowsky,
• Brian Shayota,
• Sabrina Malone-Jenkins,
• Pinar Bayrak-Toydemir,
• Rong Mao

Affiliations

Ting Wen

ARUP Laboratories, University of Utah School of Medicine

Hayley Reynolds

University of Utah School of Medicine

Andrew Farrell

Department of Human Genetics, Utah Center for Genetic Discovery

Barry Moore

Department of Human Genetics, Utah Center for Genetic Discovery

Steven Boyden

Department of Human Genetics, Utah Center for Genetic Discovery

Thomas Nicholas

Department of Human Genetics, Utah Center for Genetic Discovery

Shawn Rynearson

Department of Human Genetics, Utah Center for Genetic Discovery

Carson Holt

Department of Human Genetics, Utah Center for Genetic Discovery

Christine Miller

ARUP Laboratories

Katherine Noble

ARUP Laboratories

Dawn Bentley

Division of Neonatology, Department of Pediatrics University of Utah School of Medicine

Rachel Palmquist

Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine

Betsy Ostrander

Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine

Stephanie Manberg

Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine

Joshua Bonkowsky

Division of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine

Brian Shayota

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine

Sabrina Malone-Jenkins

Division of Neonatology, Department of Pediatrics University of Utah School of Medicine

Pinar Bayrak-Toydemir

ARUP Laboratories

Rong Mao

ARUP Laboratories