Thomas A. Cassini

Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-Analysis

This paper evaluates the diagnostic accuracy of large language models for rare diseases through a systematic review and meta-analysis, finding substantial variation in performance across benchmarks and high risk of bias in all studies.

A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide

This study identifies deep intronic IGHMBP2 variants causing SMARD1 and CMT2S, showing they activate a shared cryptic splice donor, enabling correction with a single antisense oligonucleotide in patient-derived motor neurons.

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

The paper identifies biallelic variants in RNU2-2 as a common cause of recessive neurodevelopmental disorders, showing higher prevalence than the dominant form in England.

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models

The paper identifies a hypomorphic SLC6A1 variant causing variable expressivity in neurodevelopmental disorders using clinical phenotyping and Drosophila models.

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

The paper uses personalized structural biology to analyze de novo KCNC2 variants in a DEE patient, revealing distinct functional effects of two nearby variants.