Last Updated: 09/26/2026
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Found 19 publications
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference.
Journal: Human genetics
Published: December 13, 2024
Endolymphatic Sac Tumors Associated With von Hippel-Lindau: A Case Report Highlighting Opportunity for Novel Orphan Drug Therapy.
Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Published: August 21, 2024
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy.
Journal: Journal of the peripheral nervous system : JPNS
Published: June 26, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Journal: Human genetics
Published: April 22, 2024
SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.
Journal: Frontiers in neurology
Published: February 04, 2021
Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.
Journal: Genetic testing and molecular biomarkers
Published: July 30, 2020
Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.
Journal: Molecular genetics & genomic medicine
Published: May 15, 2020
Assuring Clonality on the Beacon Digital Cell Line Development Platform.
Journal: Biotechnology journal
Published: June 01, 2019
A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy.
Journal: Molecular genetics & genomic medicine
Published: May 24, 2019
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.
Journal: Neurology. Genetics
Published: May 23, 2019
Nanoscale integration of single cell biologics discovery processes using optofluidic manipulation and monitoring.
Journal: Biotechnology and bioengineering
Published: January 31, 2019
Last Updated: 09/26/2026