A generalizable pre-clinical research approach for orphan disease therapy

by Beaulieu Chandree L, Samuels Mark E, Ekins Sean, McMaster Christopher R, Edwards Aled M, Krainer Adrian R, Hicks Geoffrey G, Frey Brendan J, Boycott Kym M, MacKenzie Alex E
Published 2012-06-01

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (<it>HSD17B4</it>) defines a new subtype of D-bifunctional protein deficiency

by McMillan Hugh J, Worthylake Thea, Schwartzentruber Jeremy, Gottlieb Chloe C, Lawrence Sarah E, MacKenzie Alex, Beaulieu Chandree L, Mooyer Petra A W, Wanders Ronald J A, Majewski Jacek, Bulman Dennis E, Geraghty Michael T, Ferdinandusse Sacha, Boycott Kym M
Published 2012-11-01

In Silico Mining of a System Wide Transcriptional Profiling Database for Clinically Relevant Gene Modulation by FDA Approved or FDA Ready Agents; Validation of a Novel Translationa...

by Witherspoon, Luke
Published 2011

RNAi Screening of the Kinome Identifies PACT as a Novel Genetic Modifier of Foci Integrity in Myotonic Dystrophy type 1

by O'Reilly, Sean W.P.
Published 2014

Repurposing 13-Cis-Retinoic Acid: A Potential Treatment for Aneurysms-Osteoarthritis Syndrome

by Putos, Samantha
Published 2015