Thomas Cassini

11PUBLICATIONS

47CO-AUTHORS

Medical mycologyMedical biochemistry - lipidsMetabolic medicineGene expression (incl. microarray and other genome-wide approaches)Neurogenetics

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Publications (11)

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|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 <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorder.

Daniel Greene, Rodrigo Mendez, Jon Lees

|Aug 21, 2025

Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.

Russell Stewart, Kimberly M Ezell, Deanna S Bell

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Frequent Collaborators

Yutaka Furuta

Kimberly M Ezell

Cynthia J Tifft

May Christine V Malicdan

Rory J Tinker

Rodrigo Mendez

Devon E Bonner

Andrew D Mumford

Matthew T Wheeler

Ernest Turro

Frequent Collaborators

Yutaka Furuta

Kimberly M Ezell

Cynthia J Tifft

May Christine V Malicdan