Casie Genetti

10PUBLICATIONS
140CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesPredictive and prognostic markersDevelopmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)
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Publications (10)

|Jul 30, 2026
LLM-Assisted Reanalysis of Unsolved Rare Disease Genomes Increases Diagnostic Yield.

|Jun 26, 2026
Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic Diseases.

|Nov 26, 2025
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.

Yong-Han Hank Cheng, Adriana E Sedeño-Cortés, Jane E Ranchalis

|Jul 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Jul 15, 2025
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.

Clara Hildebrandt, Casie A Genetti, Tanya Logvinenko

|Jun 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.

Justyne E Ross, May Flowers, Shannon McNulty

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Frequent Collaborators

8 joint publications

Alan H Beggs

4 joint publications

Catherine A Brownstein

4 joint publications

Monica Wojcik

2 joint publications

Katarina Pelin