Showing results (91-100 of 124) with videos related to

Sort By:
Pageof 13
JAMA Network Open|October 25, 2023
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic TestingElaine Chen, Flavia M Facio, Kerry W Aradhya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 12, 2009
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratoriesKaren D Tsuchiya, Lisa G Shaffer, Swaroop Aradhya, et al.
The Journal of Molecular Diagnostics : JMD|August 22, 2025
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic TestsSomak Roy, Martine W Tremblay, Edward Lockhart, et al.
American Journal of Human Genetics|March 18, 2023
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individualsRebecca Truty, Susan Rojahn, Karen Ouyang, et al.
Acta Neuropathologica|November 9, 2010
Loss of SMARCB1/INI1 expression in poorly differentiated chordomasBret C Mobley, Jesse K McKenney, Charles D Bangs, et al.
Leukemia Research|August 19, 2003
Comparison of interphase FISH and metaphase cytogenetics to study myelodysplastic syndrome: an Eastern Cooperative Oncology Group (ECOG) studyAthena M Cherry, Stephanie R Brockman, Sarah F Paternoster, et al.
The Journal of Molecular Diagnostics : JMD|February 11, 2014
Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testingLisa V Kalman, Jack C Tarleton, Alan K Percy, et al.
Human Genetics|July 31, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classificationSamskruthi Reddy Padigepati, David A Stafford, Christopher A Tan, et al.
Epilepsia Open|August 24, 2019
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsyRebecca Truty, Nila Patil, Raman Sankar, et al.
American Journal of Medical Genetics. Part A|December 23, 2011
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delayEric A Muller, Swaroop Aradhya, Joan F Atkin, et al.
Pageof 13