PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
Martin, Antonio Rueda, Williams, Eleanor, Foulger, Rebecca E, Leigh, Sarah, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone U S, Smith, Katherine R, Gerasimenko, Oleg, Haraldsdottir, Eik, Thomas, Ellen, Scott, Richard H, Baple, Emma, Tucci, Arianna, Brittain, Helen, de Burca, Anna, Ibañez, Kristina, Kasperaviciute, Dalia, Smedley, Damian, Caulfield, Mark, Rendon, Augusto, McDonagh, Ellen M
Published in Nature genetics (01.11.2019)
Published in Nature genetics (01.11.2019)
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Journal Article
Novel mutations in Darier disease and association to self-reported disease severity
Leong, Ivone U S, Stuckey, Alexander, Ahanian, Tara, Cederlöf, Martin, Wikstrom, Jakob D
Published in PloS one (13.10.2017)
Published in PloS one (13.10.2017)
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Journal Article
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations
Leong, Ivone U S, Stuckey, Alexander, Lai, Daniel, Skinner, Jonathan R, Love, Donald R
Published in BMC medical genetics (13.05.2015)
Published in BMC medical genetics (13.05.2015)
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Journal Article
Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory
Leong, Ivone U S, Stuckey, Alexander, Belluoccio, Daniele, Fan, Vicky, Skinner, Jonathan R, Prosser, Debra O, Love, Donald R
Published in Medical sciences (Basel) (10.10.2017)
Published in Medical sciences (Basel) (10.10.2017)
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Journal Article
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
Stark, Zornitza, Foulger, Rebecca E., Williams, Eleanor, Thompson, Bryony A., Patel, Chirag, Lunke, Sebastian, Snow, Catherine, Leong, Ivone U.S., Puzriakova, Arina, Daugherty, Louise C., Leigh, Sarah, Boustred, Christopher, Niblock, Olivia, Rueda-Martin, Antonio, Gerasimenko, Oleg, Savage, Kevin, Bellamy, William, Lin, Victor San Kho, Valls, Roman, Gordon, Lavinia, Brittain, Helen K., Thomas, Ellen R.A., Taylor Tavares, Ana Lisa, McEntagart, Meriel, White, Susan M., Tan, Tiong Y., Yeung, Alison, Downie, Lilian, Macciocca, Ivan, Savva, Elena, Lee, Crystle, Roesley, Ain, De Fazio, Paul, Deller, Jane, Deans, Zandra C., Hill, Sue L., Caulfield, Mark J., North, Kathryn N., Scott, Richard H., Rendon, Augusto, Hofmann, Oliver, McDonagh, Ellen M.
Published in American journal of human genetics (02.09.2021)
Published in American journal of human genetics (02.09.2021)
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Journal Article
Darier disease is associated with type 1 diabetes: Findings from a population-based cohort study
Cederlöf, Martin, Curman, Philip, Ahanian, Tara, Leong, Ivone U.S., Brismar, Kerstin, Bachar-Wikstrom, Etty, Wikstrom, Jakob D.
Published in Journal of the American Academy of Dermatology (01.12.2019)
Published in Journal of the American Academy of Dermatology (01.12.2019)
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Journal Article
Darier disease is associated with heart failure: a cross-sectional case-control and population based study
Bachar-Wikstrom, Etty, Curman, Philip, Ahanian, Tara, Leong, Ivone U S, Larsson, Henrik, Cederlöf, Martin, Wikstrom, Jakob D
Published in Scientific reports (23.04.2020)
Published in Scientific reports (23.04.2020)
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Journal Article
Expression of a Mutant kcnj2 Gene Transcript in Zebrafish
Leong, Ivone U. S., Skinner, Jonathan R., Shelling, Andrew N., Love, Donald R.
Published in ISRN molecular biology (01.01.2014)
Published in ISRN molecular biology (01.01.2014)
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Journal Article
Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene
Leong, Ivone U. S., Sucich, Jennifer, Prosser, Debra O., Skinner, Jonathan R., Crawford, Jackie R., Higgins, Colleen, Love, Donald R.
Published in Upsala journal of medical sciences (01.08.2015)
Published in Upsala journal of medical sciences (01.08.2015)
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Journal Article
Expression of a Mutant kcnj2 Gene Transcript in Zebrafish
Leong, Ivone U S, Skinner, Jonathan R, Shelling, Andrew N, Love, Donald R
Published in ISRN molecular biology (2013)
Published in ISRN molecular biology (2013)
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Journal Article
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia
Nickerson, Sarah L, Marquis-Nicholson, Renate, Claxton, Karen, Ashton, Fern, Leong, Ivone U S, Prosser, Debra O, Love, Jennifer M, George, Alice M, Taylor, Graham, Wilson, Callum, Gardner, R J McKinlay, Love, Donald R
Published in Microarrays (Basel, Switzerland) (23.10.2015)
Published in Microarrays (Basel, Switzerland) (23.10.2015)
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Journal Article
Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity
Leong, Ivone U S, Dryland, Philippa A, Prosser, Debra O, Lai, Stella W-S, Graham, Mandy, Stiles, Martin, Crawford, Jackie, Skinner, Jonathan R, Love, Donald R
Published in Journal of clinical medicine research (01.08.2017)
Published in Journal of clinical medicine research (01.08.2017)
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Journal Article
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia
Nickerson, Sarah L, Marquis-Nicholson, Renate, Claxton, Karen, Ashton, Fern, Leong, Ivone U S, Prosser, Debra O, Love, Jennifer M, George, Alice M, Taylor, Graham, Wilson, Callum, Gardner, R J McKinlay, Love, Donald R
Published in Microarrays (Basel, Switzerland) (23.10.2015)
Published in Microarrays (Basel, Switzerland) (23.10.2015)
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