Last Updated: 09/26/2026
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Found 11 publications
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Journal: Brain : a journal of neurology
Published: December 16, 2022
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 07, 2021
ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 05, 2021
CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
Journal: American journal of medical genetics. Part A
Published: June 26, 2020
A decision aid for additional findings in genomic sequencing: Development and pilot testing.
Journal: Patient education and counseling
Published: April 01, 2020
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.
Journal: The Journal of pediatrics
Published: March 02, 2020
Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.
Journal: American journal of medical genetics. Part A
Published: November 26, 2018
CNTNAP1 mutations in an adult with Charcot Marie Tooth disease.
Journal: Muscle & nerve
Published: October 30, 2018
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Journal: American journal of human genetics
Published: October 08, 2018
Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges.
Journal: Journal of genetic counseling
Published: August 31, 2018
Interruption of CXCL13-CXCR5 axis increases upper genital tract pathology and activation of NKT cells following chlamydial genital infection.
Journal: PloS one
Published: May 16, 2012
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Last Updated: 09/26/2026