Shane McKee

10PUBLICATIONS
78CO-AUTHORS
NeonatologyMechanobiologyGene expression (incl. microarray and other genome-wide approaches)Gene and molecular therapyNeurology and neuromuscular diseases
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Publications (10)

|Aug 14, 2026
Obtaining a Diagnostic Yield via Scan findings prior to the introduction of SEquencing retrospectivelY (ODYSSEY): a cohort study.

|Jun 15, 2026
Systematic discovery of UFM1 receptors reveals a regulatory module in DNA repair directing non-homologous end-joining.

|Jun 12, 2026
A Novel Approach to Interrogating Whole Genome Sequencing Data to Optimise Clinical Utility.

|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

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Frequent Collaborators

2 joint publications

Patrick Rump

2 joint publications

Fionnuala Mone

2 joint publications

Amy Jayne McKnight

1 joint publications

Christine K Schmidt