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The Neurohospitalist|June 9, 2025
Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic TestingYutaka Furuta, Neena S Agrawal, Angela R Grochowsky, et al.
JAMA Internal Medicine|June 16, 2025
Diseases Common in Persons With Cystic Fibrosis Among CFTR HeterozygotesChenjie Zeng, Sangwoo T Han, Thomas A Cassini, et al.
American Journal of Medical Genetics. Part A|January 18, 2018
Phenotypic heterogeneity of ZMPSTE24 deficiencyThomas A Cassini, Amy K Robertson, Anna G Bican, et al.
Molecular Genetics & Genomic Medicine|April 26, 2019
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptomsThomas A Cassini, Laura Duncan, Lynette C Rives, et al.
Studies in Health Technology and Informatics|August 8, 2025
Accuracy of Large Language Models in Generating Rare Disease Differential Diagnosis Using Key Clinical FeaturesCathy Shyr, Rory J Tinker, Paul A Harris, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-AnalysisMinh-Ha Nguyen, Chih-Ting Yang, Thomas A Cassini, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
A statistical framework for evaluating the repeatability and reproducibility of large language modelsCathy Shyr, Boyu Ren, Chih-Yuan Hsu, et al.
American Journal of Medical Genetics. Part A|April 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic VariantsYutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.
Neuromuscular Disorders : NMD|February 12, 2023
MYH2-associated myopathy caused by a novel splice-site variantThomas A Cassini, May Christine V Malicdan, Ellen F Macnamara, et al.
Neurogenetics|August 11, 2025
First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 geneB Lakshitha A Perera, Russell Stewart, Yutaka Furuta, et al.
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