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American Journal of Medical Genetics. Part A|March 5, 2019
Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencingKendell German, Gail H Deutsch, Amanda S Freed, et al.Journal of Genetic Counseling|April 10, 2019
Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challengesSarah V Clowes Candadai, Megan C Sikes, Jenny M Thies, et al.American Journal of Medical Genetics. Part A|December 9, 2020
CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrumAmanda S Freed, Anisha C Schwarz, Brianna K Brei, et al.Plos One|May 1, 2009
A vault nanoparticle vaccine induces protective mucosal immunityCheryl I Champion, Valerie A Kickhoefer, Guangchao Liu, et al.Patient Education and Counseling|November 16, 2020
A decision aid for additional findings in genomic sequencing: Development and pilot testingAmanda S Freed, Inga Gruß, Carmit K McMullen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2022
ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trialElizabeth G Liles, Michael C Leo, Amanda S Freed, et al.The Journal of Pediatrics|June 20, 2020
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill ChildrenAmanda S Freed, Sarah V Clowes Candadai, Megan C Sikes, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 28, 2022
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescentsJessica Ezzell Hunter, Charisma L Jenkins, Joanna E Bulkley, et al.Brain : a Journal of Neurology|August 30, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisArthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al.American Journal of Human Genetics|January 15, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayJustyna A Karolak, Marie Vincent, Gail Deutsch, et al.Pageof 1