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Plos One|October 14, 2017
Novel mutations in Darier disease and association to self-reported disease severityIvone U S Leong, Alexander Stuckey, Tara Ahanian, et al.
ISRN Molecular Biology|June 24, 2016
Expression of a Mutant kcnj2 Gene Transcript in ZebrafishIvone U S Leong, Jonathan R Skinner, Andrew N Shelling, et al.
Diabetology & Metabolic Syndrome|February 12, 2020
Metabolic phenotype in Darier disease: a cross-sectional clinical studyTara Ahanian, Philip Curman, Ivone U S Leong, et al.
Scientific Reports|April 25, 2020
Darier disease is associated with heart failure: a cross-sectional case-control and population based studyEtty Bachar-Wikstrom, Philip Curman, Tara Ahanian, et al.
Medical Sciences (Basel, Switzerland)|November 4, 2017
Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic LaboratoryIvone U S Leong, Alexander Stuckey, Daniele Belluoccio, et al.
Upsala Journal of Medical Sciences|April 4, 2015
Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 geneIvone U S Leong, Jennifer Sucich, Debra O Prosser, et al.
Journal of Clinical Medicine Research|July 21, 2017
Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting PathogenicityIvone U S Leong, Philippa A Dryland, Debra O Prosser, et al.
Microarrays (Basel, Switzerland)|September 8, 2016
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating AtaxiaSarah L Nickerson, Renate Marquis-Nicholson, Karen Claxton, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 31, 2024
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical PracticeIvone U S Leong, Claudia P Cabrera, Valentina Cipriani, et al.
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