Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review
Glass, Graeme E, Mohammedali, Shiyas, Sivakumar, Bran, Stotland, Mitchell A, Abdulkader, Faisal, Prosser, Debra O, Love, Donald R
Published in BMC pediatrics (30.12.2022)
Published in BMC pediatrics (30.12.2022)
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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
Observations on the Natural History of Camurati‐Engelmann Disease
Hughes, Peter, Hassan, Ibrahim, Que, Lorna, Mead, Patricia, Lee, Jessica Heejong, Love, Donald R, Prosser, Debra O, Cundy, Tim
Published in Journal of bone and mineral research (01.05.2019)
Published in Journal of bone and mineral research (01.05.2019)
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Journal Article
Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome
Earle, Nikki, BSc (Hons), Yeo Han, Dug, PhD, Pilbrow, Anna, PhD, Crawford, Jackie, NZCS, Smith, Warren, FRACP, Shelling, Andrew N., PhD, Cameron, Vicky, PhD, Love, Donald R., PhD, Skinner, Jonathan R., FRACP, MD
Published in Heart rhythm (2014)
Published in Heart rhythm (2014)
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Journal Article
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review
Al-Maraghi, Aljazi, Aamer, Waleed, Ziab, Mubarak, Aliyev, Elbay, Elbashir, Najwa, Hussein, Sura, Palaniswamy, Sasirekha, Anand, Dhullipala, Love, Donald R, Charles, Adrian, A S Akil, Ammira, Fakhro, Khalid A
Published in BMC nephrology (22.04.2024)
Published in BMC nephrology (22.04.2024)
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Journal Article
Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds
Skinner, Jonathan R., MD, Crawford, Jackie, NZCS, Smith, Warren, FRACP, Aitken, Andrew, FRACP, Heaven, David, FRACP, Evans, Cary-Anne, MSc(Med), Hayes, Ian, FRACP, Neas, Katherine R., FRACP, Stables, Simon, FRCPA, Koelmeyer, Timothy, FRCPA, Denmark, Lloyd, FRCP, Vuletic, Jane, FRACP, Maxwell, Fraser, FRACP, White, Kate, FRCPA, Yang, Tao, PhD, Roden, Dan M., MD, Leren, Trond P., MD, Shelling, Andrew, PhD, Love, Donald R., PhD
Published in Heart rhythm (01.03.2011)
Published in Heart rhythm (01.03.2011)
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Journal Article
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder
Jacobsen, Jessie C., Wilson, Callum, Cunningham, Vicki, Glamuzina, Emma, Prosser, Debra O., Love, Donald R., Burgess, Trent, Taylor, Juliet, Swan, Brendan, Hill, Rosamund, Robertson, Stephen P., Snell, Russell G., Lehnert, Klaus
Published in Journal of inherited metabolic disease (01.03.2016)
Published in Journal of inherited metabolic disease (01.03.2016)
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Journal Article
Community detection of long QT syndrome with a clinical registry: An alternative to ECG screening programs?
Earle, Nikki, BSc (Hons), Crawford, Jackie, NZCS, Smith, Warren, FRACP, Hayes, Ian, FRACP, Shelling, Andrew, PhD, Hood, Margaret, FRACP, Stiles, Martin, FRACP, PhD, Maxwell, Fraser, FRACP, Heaven, David, FRACP, Love, Donald R., PhD, Skinner, Jonathan R., FRACP, MD
Published in Heart rhythm (01.02.2013)
Published in Heart rhythm (01.02.2013)
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Journal Article
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
Prosser, Debra O., Love, Donald R., Brown, Angela, Zamanpoor, Mansur
Published in Sultan Qaboos University medical journal (01.11.2019)
Published in Sultan Qaboos University medical journal (01.11.2019)
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Journal Article
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment
Ryder, Bryony, Knoll, Detlef, Love, Donald R., Shepherd, Phillip, Love, Jennifer M., Reed, Peter W., de Hora, Mark, Webster, Dianne, Glamuzina, Emma, Wilson, Callum
Published in Journal of inherited metabolic disease (01.05.2016)
Published in Journal of inherited metabolic disease (01.05.2016)
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Journal Article
Lung cancer mutation testing: a clinical retesting study of agreement between a real-time PCR and a mass spectrometry test
Shepherd, Phillip, Sheath, Karen L, Tin, Sandar Tin, Khwaounjoo, Prashannata, Aye, Phyu S, Li, Angie, Laking, George R, Kingston, Nicola J, Lewis, Christopher A, Mark Elwood, J, Love, Donald R, McKeage, Mark J
Published in Oncotarget (24.11.2017)
Published in Oncotarget (24.11.2017)
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Journal Article
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease
Poquérusse, Jessie, Nolan, Melinda, Thorburn, David R., Van Hove, Johan L. K., Friederich, Marisa W., Love, Donald R., Taylor, Juliet, Powell, Christopher A., Minczuk, Michal, Snell, Russell G., Lehnert, Klaus, Glamuzina, Emma, Jacobsen, Jessie C.
Published in JIMD reports (01.05.2023)
Published in JIMD reports (01.05.2023)
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Journal Article
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy
Raju, Hariharan, Ware, James S, Skinner, Jonathan R, Hedley, Paula L, Arno, Gavin, Love, Donald R, van der Werf, Christian, Tfelt-Hansen, Jacob, Winkel, Bo Gregers, Cohen, Marta C, Li, Xinzhong, John, Shibu, Sharma, Sanjay, Jeffery, Steve, Wilde, Arthur A M, Christiansen, Michael, Sheppard, Mary N, Behr, Elijah R
Published in BMC cardiovascular disorders (23.07.2019)
Published in BMC cardiovascular disorders (23.07.2019)
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Journal Article
Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype
Mohammed, Idris, Al‐Khawaga, Sara, Bohanna, David, Shabani, Abdusamea, Khan, Faiyaz, Love, Donald R., Nawaz, Zafar, Hussain, Khalid
Published in Molecular genetics & genomic medicine (01.06.2020)
Published in Molecular genetics & genomic medicine (01.06.2020)
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Journal Article
Activin is a potent growth suppressor of epithelial ovarian cancer cells
Ramachandran, Anassuya, Marshall, Elaine S, Love, Donald R, Baguley, Bruce C, Shelling, Andrew N
Published in Cancer letters (28.11.2009)
Published in Cancer letters (28.11.2009)
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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
Chemical discovery and global gene expression analysis in zebrafish
Love, Donald R, Pichler, Franz B, Laurenson, Sophie, Williams, Liam C, Dodd, Andrew, Copp, Brent R
Published in Nature biotechnology (01.08.2003)
Published in Nature biotechnology (01.08.2003)
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