Publications by authors named "Thomas A Cassini"

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Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses.
Yutaka Furuta, Kimberly M Ezell, Rizwan Hamid, Joy D Cogan, Thomas A Cassini

Mol Genet Genomic Med· December 2025

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A statistical framework for evaluating the repeatability and reproducibility of large language models.
Cathy Shyr, Boyu Ren, Chih-Yuan Hsu, Rory J Tinker, Thomas A Cassini

medRxiv· November 2025

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Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.
Chenjie Zeng, Sangwoo T Han, Thomas A Cassini, Karen S Raraigh, Tam C Tran

JAMA Intern Med· August 2025

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Accuracy of Large Language Models in Generating Rare Disease Differential Diagnosis Using Key Clinical Features.
Cathy Shyr, Rory J Tinker, Paul A Harris, Alex C Cheng, Kevin W Byram, Thomas A Cassini

Stud Health Technol Inform· August 2025

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First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.
B Lakshitha A Perera, Russell Stewart, Yutaka Furuta, Kimberly M Ezell, Lynette Rives, Thomas A Cassini

Neurogenetics· August 2025

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Large Language Models for Rare Disease Diagnosis at the Undiagnosed Diseases Network.
Cathy Shyr, Thomas A Cassini, Rory J Tinker, Kevin W Byram, Peter J Embí

JAMA Netw Open· August 2025

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Biallelic variants in cause the most prevalent known recessive neurodevelopmental disorder.
Daniel Greene, Rodrigo Mendez, Jon Lees, Mafalda Barbosa, Alessandro Bruselles, Thomas A Cassini

medRxiv· August 2025

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Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing.
Yutaka Furuta, Neena S Agrawal, Angela R Grochowsky, Rory J Tinker, Bret C Mobley, Thomas A Cassini

Neurohospitalist· June 2025

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MYH2-associated myopathy caused by a novel splice-site variant.
Thomas A Cassini, May Christine V Malicdan, Ellen F Macnamara, Tanya Lehky, Iren Horkayne-Szakaly

Neuromuscul Disord· March 2023

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Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by KCNC2 variants.
Souhrid Mukherjee, Thomas A Cassini, Ningning Hu, Tao Yang, Bian Li

HGG Adv· October 2022

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Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Thomas A Cassini, Laura Duncan, Lynette C Rives, John H Newman, John A Phillips

Mol Genet Genomic Med· June 2019

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Phenotypic heterogeneity of ZMPSTE24 deficiency.
Thomas A Cassini, Amy K Robertson, Anna G Bican, Joy D Cogan, Vickie L Hannig

Am J Med Genet A· May 2018

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