Shane McKee

9PUBLICATIONS
72CO-AUTHORS
MechanobiologyGene expression (incl. microarray and other genome-wide approaches)Gene and molecular therapyNeurology and neuromuscular diseasesOptical technology
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Publications (9)

|Apr 13, 2026
Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio

|Apr 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Daniel Greene, Koenraad De Wispelaere, Jon Lees

|Feb 25, 2022
SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.

Chiara Migliore, Anna Vendramin, Shane McKee

|Mar 21, 2020
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Lianne C Krab, Iñigo Marcos-Alcalde, Melissa Assaf

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