Genetics in Medicine Open (Jan 2024)
P687: Variant classification discrepancies in the ACADVL gene
- Alexa Dickson,
- May Flowers,
- Marcus Miller,
- Elaine Spector,
- Gregory Enns,
- Heather Baudet,
- Marzia Pasquali,
- Lemuel Racacho,
- Kianoush Sadre-Bazzaz,
- Ting Wen,
- Melissa Fogarty,
- Raquel Fernandez,
- Meredith Weaver,
- Annette Feigenbaum,
- Brett Graham,
- Rong Mao
Affiliations
- Alexa Dickson
- Washington University in St. Louis
- May Flowers
- Invitae Corporation
- Marcus Miller
- Department of Medical and Molecular Genetics, Indiana University School of Medicine
- Elaine Spector
- Department of Pathology, University of Colorado School of Medicine
- Gregory Enns
- Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital
- Heather Baudet
- Department of Genetics, University of North Carolina School of Medicine
- Marzia Pasquali
- Department of Pathology, University of Utah
- Lemuel Racacho
- Department of Medical Genetics, Alberta Children's Hospital
- Kianoush Sadre-Bazzaz
- ARUP Laboratories
- Ting Wen
- ARUP Laboratories
- Melissa Fogarty
- ARUP Laboratories
- Raquel Fernandez
- American College of Medical Genetics and Genomics
- Meredith Weaver
- American College of Medical Genetics and Genomics
- Annette Feigenbaum
- Department of Pediatrics, Division of Genetics, Rady Children's Hospital
- Brett Graham
- Department of Medical and Molecular Genetics, Indiana University School of Medicine
- Rong Mao
- ARUP Laboratories
- Journal volume & issue
-
Vol. 2
p. 101591
