P536: 2q11.2 recurrent CNVs including TMEM127: A collaborative multi-center study to expand knowledge of neurodevelopmental phenotypes and pheochromocytoma/paraganglioma syndrome predisposition
Lucilla Pizzo,
Zoe Lewis,
Lauren Walsh,
Cassandra Runke,
Margit Nõukas,
Katrin Männik,
Neeme Tõnisson,
Erik Thorland,
Christa Martin,
Katie Rudd,
Erica Andersen
Affiliations
Lucilla Pizzo
Department of Pathology, University of Utah School of Medicine. ARUP Laboratories, Salt Lake City, UT
Zoe Lewis
ARUP Laboratories, Salt Lake City, UT
Lauren Walsh
Autism & Developmental Medicine Institute, Geisinger, Danville, PA
Cassandra Runke
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
Margit Nõukas
Estonian Biobank, Institute of Genomic, University of Tartu, Tartu, Estonia
Katrin Männik
Health 2030 Genome Center, Fondation Campus Biotech Geneva, Geneva, Switzerland
Neeme Tõnisson
Estonian Biobank, Institute of Genomic, University of Tartu, Tartu, Estonia
Erik Thorland
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
Christa Martin
Autism & Developmental Medicine Institute, Geisinger, Danville, PA