P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2

• Barry Moore,
• Thomas Nicholas,
• Rong Mao,
• Brian Shayota,
• Steven Boyden,
• Chelsea Solorzano,
• Rachel Palmquist,
• Pinar Bayrak-Toydemir,
• Katherine Noble,
• Andrew Farrell,
• Edgar Hernandez,
• Shawn Rynearson,
• Carson Holt,
• Alistair Ward,
• Eric Fredrickson,
• Kelsey Nicholson,
• David Pattison,
• Jian Zhao,
• Makenzie Fulmer,
• Lucilla Pizzo,
• Ting Wen,
• John O'Shea,
• Robert Lewis,
• Hayley Reynolds,
• Betsy Ostrander,
• Hunter Best,
• Luca Brunelli,
• Mark Yandell,
• Gabor Marth,
• Aaron Quinlan,
• John Carey,
• Martin Tristani-Firouzi,
• Joshua Bonkowsky,
• Sabrina Malone-Jenkins

Affiliations

Barry Moore

Department of Human Genetics, University of Utah, Salt Lake City, UT

Thomas Nicholas

Department of Human Genetics, University of Utah, Salt Lake City, UT

Rong Mao

ARUP Laboratories, Salt Lake City, UT

Brian Shayota

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Steven Boyden

Department of Human Genetics, University of Utah, Salt Lake City, UT

Chelsea Solorzano

Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Rachel Palmquist

Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Pinar Bayrak-Toydemir

ARUP Laboratories, Salt Lake City, UT

Katherine Noble

ARUP Laboratories, Salt Lake City, UT

Andrew Farrell

Department of Human Genetics, University of Utah, Salt Lake City, UT

Edgar Hernandez

Department of Human Genetics, University of Utah, Salt Lake City, UT

Shawn Rynearson

Department of Human Genetics, University of Utah, Salt Lake City, UT

Carson Holt

Department of Human Genetics, University of Utah, Salt Lake City, UT

Alistair Ward

Frameshift Labs, Cambridge, MA

Eric Fredrickson

ARUP Laboratories, Salt Lake City, UT

Kelsey Nicholson

ARUP Laboratories, Salt Lake City, UT

David Pattison

ARUP Laboratories, Salt Lake City, UT

Jian Zhao

ARUP Laboratories, Salt Lake City, UT

Makenzie Fulmer

ARUP Laboratories, Salt Lake City, UT

Lucilla Pizzo

ARUP Laboratories, Salt Lake City, UT

Ting Wen

ARUP Laboratories, Salt Lake City, UT

John O'Shea

ARUP Laboratories, Salt Lake City, UT

Robert Lewis

ARUP Laboratories, Salt Lake City, UT

Hayley Reynolds

University of Utah School of Medicine, Salt Lake City, UT

Betsy Ostrander

Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Hunter Best

ARUP Laboratories, Salt Lake City, UT

Luca Brunelli

Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Mark Yandell

Department of Human Genetics, University of Utah, Salt Lake City, UT

Gabor Marth

Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, UT

Aaron Quinlan

Department of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, UT

John Carey

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Martin Tristani-Firouzi

Division of Pediatric Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Joshua Bonkowsky

Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Sabrina Malone-Jenkins

Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT