Last Updated: 09/26/2026
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Found 20 publications
Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: June 23, 2023
NGS-defined measurable residual disease (MRD) after initial chemotherapy as a prognostic biomarker for acute myeloid leukemia.
Journal: Blood cancer journal
Published: December 16, 2022
Rising to the Challenge: Shortages in Laboratory Medicine.
Journal: Clinical chemistry
Published: August 15, 2022
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
Journal: Molecular genetics and metabolism reports
Published: February 17, 2021
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.
Journal: PloS one
Published: November 24, 2020
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Journal: BioMed research international
Published: March 27, 2019
Prenatal cell-free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory.
Journal: Molecular genetics & genomic medicine
Published: July 26, 2018
Effectiveness of Practices to Support Appropriate Laboratory Test Utilization: A Laboratory Medicine Best Practices Systematic Review and Meta-Analysis.
Journal: American journal of clinical pathology
Published: February 23, 2018
Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach.
Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology
Published: April 12, 2017
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
Journal: PLoS genetics
Published: January 11, 2016
Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic.
Journal: Seminars in arthritis and rheumatism
Published: July 02, 2015
Last Updated: 09/26/2026