Thomas Cassini

12PUBLICATIONS
49CO-AUTHORS
Medical biochemistry - carbohydratesMedical mycologyMedical biochemistry - lipidsMetabolic medicineGene expression (incl. microarray and other genome-wide approaches)
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Publications (12)

|Aug 04, 2026
Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction.

|Jun 29, 2026
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer.

|Apr 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.

|Apr 27, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation.

|Jan 07, 2026
Decoding Genetic Disease Through the Skin: Lessons From the UDN.

Athira Sivadas, Katelyn Moore, Kimberly Ezell

|Sep 05, 2025
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Daniel Greene, Rodrigo Mendez, Jon Lees

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Frequent Collaborators

4 joint publications

Yutaka Furuta

3 joint publications

Kimberly M Ezell

3 joint publications

Rory J Tinker

2 joint publications

Cynthia J Tifft