Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions

por Tang, Rongying, Prosser, Debra O., Love, Donald R.
Publicado 2016

Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines

por Brown, Angela, Zamanpoor, Mansour, Love, Donald R., Prosser, Debra O.
Publicado 2019

Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation

por Brookes, Clare, Prosser, Debra O., Love, Jennifer M., Gardner, R. J. McKinlay, Love, Donald R.
Publicado 2013

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory

por Leong, Ivone U. S., Stuckey, Alexander, Belluoccio, Daniele, Fan, Vicky, Skinner, Jonathan R., Prosser, Debra O., Love, Donald. R.
Publicado 2017

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review

por Glass, Graeme E., Mohammedali, Shiyas, Sivakumar, Bran, Stotland, Mitchell A., Abdulkader, Faisal, Prosser, Debra O., Love, Donald R.
Publicado 2022

Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene

por Leong, Ivone U. S., Sucich, Jennifer, Prosser, Debra O., Skinner, Jonathan R., Crawford, Jackie R., Higgins, Colleen, Love, Donald R.
Publicado 2015

Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity

por 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.
Publicado 2017

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

por 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, McKinlay Gardner, R. J., Love, Donald R.
Publicado 2015