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3. A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

Author

Ades, Lesley, Enriquez, Annabel, McLean, Alison, Smyth, Renee, Alankarage, Dimithu, Fatkin, Diane, McNamara, James, Soka, Magdalena, Morgan almog, Fear, Vanessa, Medi, Caroline, Stark, Zornitza, Al-Shinnag, Mohammad, Fine, Miriam, Metke, Alejandro, Sy, Raymond, Atherton, John J., Finlay, Keri, Milnes, Di, Tang, Dotti, Austin, Rachel, Garza, Denisse, Milward, Michael, Taylor, Jessica, Bagnall, Richard D., Giannoulatou, Eleni, Morrish, Ansley, Taylor, Shelby, Barnett, Chris, Gongolidis, Laura, Morwood, Jim, Tchan, Michel, Blue, Gillian M., Gray, Belinda, Mountain, Helen, Thompson, Tina, Bodek, Simon, Greer, Cassie, Mowat, David, Thorpe, Jordan, Boggs, Kirsten, Haan, Eric, Ng, Chai-Ann, Trainer, Alison, Bogwitz, Michael, Haas, Mathilda, Nowak, Natalie, Trivedi, Gunjan, Boughtwood, Tiffany, Hanna, Bernadette, Martinez, Noelia Nunez, Valente, Giulia, Bray, Alessandra, Harvey, Richard, Ohanian, Monique, van Spaendonck-Zwarts, Karin, Brion, Marie-Jo, Hayward, Janette, O’Sullivan, Sinead, Vandenberg, Jamie, Brown, Jaye, Herrera, Carmen, Overkov, Angela, Verma, Kunal, Richardson, Rob Bryson, Hill, Adam, Pachter, Nicholas, Vidgen, Miranda, Burnett, Leslie, Hollingsworth, Georgie, Patel, Chirag, Vohra, Jitendra, Burns, Charlotte, Hollway, Georgina, Perrin, Mark, Waddel-Smith, Kathryn, Cao, Michelle, Horton, Ari E., Perry, Matthew, Wallis, Mathew, Carr, Will, Howting, Denise, Pflaumer, Andreas, Weintraub, Robert G., Casauria, Sarah, Ingles, Jodie, Phillips, Peta, Wilson, Meredith, Chalinor, Heather, Isbister, Joanne, Phuong, Thuan, Winlaw, David, Chang, Yuchen, Jackson, Matilda, Pope-Couston, Rachel, Worgan, Lisa, Chapman, Gavin, James, Paul, Poplawski, Nicola K., Wornham, Linda, Charitou, Theosodia, Jane-Pantaleo, Sarah, Punni, Preeti, Wu, Kathy, Chong, Belinda, Johnson, Renee, Quinn, Michael C.J., Yeates, Laura, Collins, Felicity, Kelly, Andrew, Quinn, Michael, Zentner, Dominica, Correnti, Gemma, King-Smith, Sarah, Rajagopalan, Sulekha, Cox, Kathy, Kirk, Edwin, Raju, Hariharan, Cunningham, Fiona, Kummerfeld, Sarah, Rath, Emma M., Das, Debjani, Lassman, Timo, Regan, Matthew, Davis, Jason, Lipton, Jonathon, Rogers, Jonathan, Davis, Andrew, Lunke, Sebastian, Ryan, Mark, De Fazio, Paul, Macciocca, Ivan, Sandaradura, Sarah, de Silva, Michelle, MacIntyre, Paul, Schonrock, Nicole, Den Elzen, Nicola, Madelli, Evanthia O., Scuffham, Paul, Devery, Sophie, Mallawaarachchi, Amali, Semsarian, Chris, Dobbins, Julia, Mansour, Julia, Sherburn, Isabella, Dunwoodie, Sally L., Martin, Ellenore, Sherlock, Mary-Clare, Dwyer, Nathan, Mathew, Jacob, Singer, Emma, Elbracht-Leong, Stefanie, Mattiske, Tessa, Smerdon, Carla, Elliott, David, McGaughran, Julie, Smith, Janine, Brown, Jaye S., Haas, Matilda, and Pantaleo, Sarah-Jane

Published
2024
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7. The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic

Author

Stafford, Fergus, Krishnan, Neesha, Richardson, Ebony, Butters, Alexandra, Hespe, Sophie, Burns, Charlotte, Gray, Belinda, Medi, Caroline, Nowak, Natalie, Isbister, Julia C., Raju, Hariharan, Richmond, David, Ryan, Mark P., Singer, Emma S., Sy, Raymond W., Yeates, Laura, Bagnall, Richard D., Semsarian, Christopher, and Ingles, Jodie

Published
2022
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11. Metabolite Content Profiling of Bottlenose Dolphin Exhaled Breath

Author

Aksenov, Alexander A, Yeates, Laura, Pasamontes, Alberto, Siebe, Craig, Zrodnikov, Yuriy, Simmons, Jason, McCartney, Mitchell M, Deplanque, Jean-Pierre, Wells, Randall S, and Davis, Cristina E

Subjects
Medical Biochemistry and Metabolomics, Analytical Chemistry, Biomedical and Clinical Sciences, Chemical Sciences, Life Below Water, Animals, Bottle-Nosed Dolphin, Breath Tests, Chromatography, Liquid, Equipment Design, Exhalation, Female, Gas Chromatography-Mass Spectrometry, Male, Volatile Organic Compounds, Other Chemical Sciences, Medical biochemistry and metabolomics, Analytical chemistry, Chemical engineering
Abstract

Changing ocean health and the potential impact on marine mammal health are gaining global attention. Direct health assessments of wild marine mammals, however, is inherently difficult. Breath analysis metabolomics is a very attractive assessment tool due to its noninvasive nature, but it is analytically challenging. It has never been attempted in cetaceans for comprehensive metabolite profiling. We have developed a method to reproducibly sample breath from small cetaceans, specifically Atlantic bottlenose dolphins (Tursiops truncatus). We describe the analysis workflow to profile exhaled breath metabolites and provide here a first library of volatile and nonvolatile compounds in cetacean exhaled breath. The described analytical methodology enabled us to document baseline compounds in exhaled breath of healthy animals and to study changes in metabolic content of dolphin breath with regard to a variety of factors. The method of breath analysis may provide a very valuable tool in future wildlife conservation efforts as well as deepen our understanding of marine mammals biology and physiology.

Published
2014

13. Sudden cardiac death in the young: A qualitative study of experiences of family members with cardiogenetic evaluation.

Author

van den Heuvel, Lieke, Do, Judy, Yeates, Laura, Burns, Charlotte, Semsarian, Chris, and Ingles, Jodie

Abstract

Sudden cardiac death (SCD) is a devastating event for the family and the community, especially when it occurs in a young person (<45 years). Genetic heart diseases, including cardiomyopathies and primary arrhythmia syndromes, are an important cause of SCD in the young. Although cardiogenetic evaluation, that is, clinical evaluation, genetic testing, and psychological support, is increasingly performed after SCD, it is unknown how suddenly bereaved family members experience the process. We aimed to explore the experiences of family members with cardiogenetic evaluation after SCD, and their perception of the process and care received. In‐depth interviews were conducted with 18 family members of young people (<45 years old) who died suddenly, including parents, siblings, and partners. The interviews were thematically analyzed by two researchers independently. In total, 18 interviews were conducted from 17 families. The following themes were identified: (1) Experiences with postmortem genetic testing including managing expectations and psychological impact, (2) appreciation of care such as access to genetic counseling and relief following cardiac evaluation of relatives, and (3) need for support including unmet psychological support needs and better coordination of care immediately after the death. Although participants appreciated the opportunity for cardiogenetic evaluation, they also experienced a lack of coordination of cardiogenetic and psychological care. Our findings stress the importance of access to expert multidisciplinary teams, including psychological care, to adequately support these families after a SCD in a young family member. [ABSTRACT FROM AUTHOR]

Published
2024
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16. Diabetes and the Metabolic Syndrome: Possibilities of a New Breath Test in a Dolphin Model

Author

Schivo, Michael, Aksenov, Alexander A, Yeates, Laura C, Pasamontes, Alberto, and Davis, Cristina E

Subjects
Medical Biochemistry and Metabolomics, Biomedical and Clinical Sciences, Diabetes, Nutrition, Prevention, Metabolic and endocrine, bottlenose dolphins, diabetes, exhaled breath, metabolic syndrome, volatile organic compounds, Clinical Sciences, Nutrition and Dietetics, Clinical sciences
Abstract

Diabetes type-2 and the metabolic syndrome are prevalent in epidemic proportions and result in significant co-morbid disease. Limitations in understanding of dietary effects and cholesterol metabolism exist. Current methods to assess diabetes are essential, though many are invasive; for example, blood glucose and lipid monitoring require regular finger sticks and blood draws. A novel method to study these diseases may be non-invasive breath testing of exhaled compounds. Currently, acetone and lipid peroxidation products have been seen in small scale studies, though other compounds may be significant. As Atlantic bottlenose dolphins (Tursiops truncatus) have been proposed as a good model for human diabetes, applications of dietary manipulations and breath testing in this population may shed important light on how to design human clinical studies. In addition, ongoing studies indicate that breath testing in dolphins is feasible, humane, and yields relevant metabolites. By studying the metabolic and cholesterol responses of dolphins to dietary modifications, researchers may gain insight into human diabetes, improve the design of costly human clinical trials, and potentially discover biomarkers for non-invasive breath monitoring.

Published
2013

18. Contributors

Author

Abegg, Sebastian, primary, Ahmed, Waqar, additional, Alkhalifah, Yaser, additional, Apolonski, Alexander, additional, Bean, Heather D., additional, Beauchamp, Jonathan D., additional, Beck, Olof, additional, Berna, Amalia Z., additional, Bikov, Andras, additional, Borras, Eva, additional, Brinkman, Paul, additional, Brodrick, Emma, additional, Corradi, Massimo, additional, Cristescu, Simona M., additional, Cumeras, Raquel, additional, Davis, Cristina E., additional, Davis, Michael D., additional, de Lacy Costello, Ben, additional, Di Natale, Corrado, additional, Dragonieri, Silvano, additional, Dweik, Raed, additional, Egeghy, Peter P., additional, Eiceman, Gary A., additional, Focant, Jean-François, additional, Fowler, Stephen, additional, Frank, Matthias, additional, Geer Wallace, M. Ariel, additional, Ghorbani, Ramin, additional, Gierschner, Peter, additional, Giese, Roger, additional, Gould, Oliver, additional, Güntner, Andreas T., additional, Hackner, Klaus, additional, Haick, Hossam, additional, Hamm, Peter, additional, Hanna, George B., additional, Herbig, Jens, additional, Hill, Jane E., additional, Högman, Marieann, additional, Hohlfeld, Jens M., additional, Holz, Olaf, additional, Jones, Alan W., additional, King, Julian, additional, Köhler, Heike U., additional, Küntzel, Anne, additional, Lan, Jiayi, additional, Lazar, Zsofia, additional, Lehtimäki, Lauri, additional, Madden, Michael C., additional, Malinovschi, Andrei, additional, Marco, Santiago, additional, Mayhew, Christopher A., additional, McCartney, Mitchell M., additional, McCord, James P., additional, Metsälä, Markus, additional, Michils, Alain, additional, Miekisch, Wolfram, additional, Miller, Justin J., additional, Mochalski, Paweł, additional, Modak, Anil S., additional, Nakhleh, Morad K., additional, Nylander-French, Leena A., additional, Odom John, Audrey R., additional, Parte, Francisco Blanco, additional, Pleil, Joachim D., additional, Ranzieri, Silvia, additional, Ratcliffe, Norman M., additional, Reinhold, Petra E., additional, Risby, Terence H., additional, Ruszkiewicz, Dorota, additional, Ruzsanyi, Veronika, additional, Ryter, Stefan W., additional, Salman, Dahlia, additional, Schivo, Michael, additional, Schmidt, Florian M., additional, Schubert, Jochen K., additional, Schwarz, Katharina, additional, Smith, David, additional, Smolinska, Agnieszka, additional, Sobus, Jon R., additional, Solga, Steven F., additional, Spacek, Lisa A., additional, Španěl, Patrik, additional, Stavropoulos, Georgios, additional, Stefanuto, Pierre-Hugues, additional, Stiegel, Matthew A., additional, Teschl, Gerald, additional, Teschl, Susanne, additional, Thomas, C. L. Paul, additional, Unterkofler, Karl, additional, van der Schee, Marc P., additional, van Schooten, Frederik-Jan, additional, Vidal-de-Miguel, Guillermo, additional, Vishinkin, Rotem, additional, Wiesenhofer, Helmut, additional, Williams, Antony J., additional, Yeates, Laura C., additional, Zanella, Delphine, additional, and Zenobi, Renato, additional

Published
2020
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26. Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant

Author

Hoorntje, Edgar T., primary, Burns, Charlotte, additional, Marsili, Luisa, additional, Corden, Ben, additional, Parikh, Victoria N., additional, te Meerman, Gerard J., additional, Gray, Belinda, additional, Adiyaman, Ahmet, additional, Bagnall, Richard D., additional, Barge-Schaapveld, Daniela Q.C.M., additional, van den Berg, Maarten P., additional, Bootsma, Marianne, additional, Bosman, Laurens P., additional, Correnti, Gemma, additional, Duflou, Johan, additional, Eppinga, Ruben N., additional, Fatkin, Diane, additional, Fietz, Michael, additional, Haan, Eric, additional, Jongbloed, Jan D.H., additional, Hauer, Arnaud D., additional, Lam, Lien, additional, van Lint, Freyja H.M., additional, Lota, Amrit, additional, Marcelis, Carlo, additional, McCarthy, Hugh J., additional, van Mil, Anneke M., additional, Oldenburg, Rogier A., additional, Pachter, Nicholas, additional, Planken, R. Nils, additional, Reuter, Chloe, additional, Semsarian, Christopher, additional, van der Smagt, Jasper J., additional, Thompson, Tina, additional, Vohra, Jitendra, additional, Volders, Paul G.A., additional, van Waning, Jaap I., additional, Whiffin, Nicola, additional, van den Wijngaard, Arthur, additional, Amin, Ahmad S., additional, Wilde, Arthur A.M., additional, van Woerden, Gijs, additional, Yeates, Laura, additional, Zentner, Dominica, additional, Ashley, Euan A., additional, Wheeler, Matthew T., additional, Ware, James S., additional, van Tintelen, J. Peter, additional, and Ingles, Jodie, additional

Published
2023
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27. Variant Location Is a Novel Risk Factor for Individuals with Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

Author

Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., Te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., Van Den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, Van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., Van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, Van Der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., Van Waning, Jaap I., Whiffin, Nicola, Van Den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., Van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., Van Tintelen, J. Peter, Ingles, Jodie, Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., Te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., Van Den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, Van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., Van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, Van Der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., Van Waning, Jaap I., Whiffin, Nicola, Van Den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., Van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., Van Tintelen, J. Peter, and Ingles, Jodie

Abstract

Background: Truncating variants in desmoplakin (DSPtv) are an important cause of arrhythmogenic cardiomyopathy; however the genetic architecture and genotype-specific risk factors are incompletely understood. We evaluated phenotype, risk factors for ventricular arrhythmias, and underlying genetics of DSPtv cardiomyopathy. Methods: Individuals with DSPtv and any cardiac phenotype, and their gene-positive family members were included from multiple international centers. Clinical data and family history information were collected. Event-free survival from ventricular arrhythmia was assessed. Variant location was compared between cases and controls, and literature review of reported DSPtv performed. Results: There were 98 probands and 72 family members (mean age at diagnosis 43±8 years, 59% women) with a DSPtv, of which 146 were considered clinically affected. Ventricular arrhythmia (sudden cardiac arrest, sustained ventricular tachycardia, appropriate implantable cardioverter defibrillator therapy) occurred in 56 (33%) individuals. DSPtv location and proband status were independent risk factors for ventricular arrhythmia. Further, gene region was important with variants in cases (cohort n=98; Clinvar n=167) more likely to occur in the regions resulting in nonsense mediated decay of both major DSP isoforms, compared with n=124 genome aggregation database control variants (148 [83.6%] versus 29 [16.4%]; P<0.0001). Conclusions: In the largest series of individuals with DSPtv, we demonstrate that variant location is a novel risk factor for ventricular arrhythmia, can inform variant interpretation, and provide critical insights to allow for precision-based clinical management.

Published
2023

28. Variant Location Is a Novel Risk Factor for Individuals with Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

Author

Arts Assistenten Cardiologie, Genetica, Genetica Groep Van Tintelen, Genetica Klinische Genetica, Circulatory Health, Cancer, Child Health, Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., Te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., Van Den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, Van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., Van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, Van Der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., Van Waning, Jaap I., Whiffin, Nicola, Van Den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., Van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., Van Tintelen, J. Peter, Ingles, Jodie, Arts Assistenten Cardiologie, Genetica, Genetica Groep Van Tintelen, Genetica Klinische Genetica, Circulatory Health, Cancer, Child Health, Hoorntje, Edgar T., Burns, Charlotte, Marsili, Luisa, Corden, Ben, Parikh, Victoria N., Te Meerman, Gerard J., Gray, Belinda, Adiyaman, Ahmet, Bagnall, Richard D., Barge-Schaapveld, Daniela Q.C.M., Van Den Berg, Maarten P., Bootsma, Marianne, Bosman, Laurens P., Correnti, Gemma, Duflou, Johan, Eppinga, Ruben N., Fatkin, Diane, Fietz, Michael, Haan, Eric, Jongbloed, Jan D.H., Hauer, Arnaud D., Lam, Lien, Van Lint, Freyja H.M., Lota, Amrit, Marcelis, Carlo, McCarthy, Hugh J., Van Mil, Anneke M., Oldenburg, Rogier A., Pachter, Nicholas, Planken, R. Nils, Reuter, Chloe, Semsarian, Christopher, Van Der Smagt, Jasper J., Thompson, Tina, Vohra, Jitendra, Volders, Paul G.A., Van Waning, Jaap I., Whiffin, Nicola, Van Den Wijngaard, Arthur, Amin, Ahmad S., Wilde, Arthur A.M., Van Woerden, Gijs, Yeates, Laura, Zentner, Dominica, Ashley, Euan A., Wheeler, Matthew T., Ware, James S., Van Tintelen, J. Peter, and Ingles, Jodie

Published
2023

36. Additional file 1 of The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic

Author

Stafford, Fergus, Krishnan, Neesha, Richardson, Ebony, Butters, Alexandra, Hespe, Sophie, Burns, Charlotte, Gray, Belinda, Medi, Caroline, Nowak, Natalie, Isbister, Julia C., Raju, Hariharan, Richmond, David, Ryan, Mark P., Singer, Emma S., Sy, Raymond W., Yeates, Laura, Bagnall, Richard D., Semsarian, Christopher, and Ingles, Jodie

Abstract

Additional file 1: Table S1. Tier 1 and Tier 2 gene lists. Table S2. Classified variants. Table S3. Classified suspicious VUS. Table S4. Severe phenotype characteristics used in monogenic disease score. Fig. S1. Reasons for additional genetic diagnoses.

Published
2023
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41. Evaluating a communication aid for return of genetic results in families with hypertrophic cardiomyopathy: A randomized controlled trial.

Author

Burns, Charlotte, Yeates, Laura, Sweeting, Joanna, Semsarian, Christopher, and Ingles, Jodie

Abstract

Genetic testing for hypertrophic cardiomyopathy (HCM) is considered a key aspect of management. Communication of genetic test results to the proband and their family members, can be a barrier to effective uptake. We hypothesized that a communication aid would facilitate effective communication, and sought to evaluate knowledge and communication of HCM risk to at‐risk relatives. This was a prospective randomized controlled trial. Consecutive HCM patients attending a specialized clinic, who agreed to participate, were randomized to the intervention or current clinical practice. The intervention consisted of a genetic counselor‐led appointment, separate to their clinical cardiology review, and guided by a communication booklet which could be written in and taken home. Current clinical practice was defined as the return of the genetic result by a genetic counselor and cardiologist, often as part of a clinical cardiology review. The primary outcome was the ability and confidence of the individual to communicate genetic results to at‐risk relatives. The a priori outcome of improved communication among HCM families did not show statistically significant differences between the control and intervention group, though the majority of probands in the intervention group achieved fair communication (n = 13/22) and had higher genetic knowledge scores than those in the control group (7 ± 3 versus 6 ± 3). A total of 29% of at‐risk relatives were not informed of a genetic result in their family. Communication among HCM families remains challenging, with nearly a third of at‐risk relatives not informed of a genetic result. We show a significant gap in the current approach to supporting family communication about genetics. Australian New Zealand Clinical Trials Registry: ACTRN12617000706370. [ABSTRACT FROM AUTHOR]

Published
2023
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42. The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic

Author

Stafford, Fergus, primary, Krishnan, Neesha, additional, Richardson, Ebony, additional, Butters, Alexandra, additional, Burns, Charlotte, additional, Gray, Belinda, additional, Medi, Caroline, additional, Nowak, Natalie, additional, Isbister, Julia C, additional, Raju, Hariharan, additional, Richmond, David, additional, Ryan, Mark P, additional, Singer, Emma S, additional, Sy, Raymond W, additional, Yeates, Laura, additional, Bagnall, Richard D, additional, Semsarian, Christopher, additional, and Ingles, Jodie, additional

Published
2022
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47. Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a desmoplakin (DSP) truncating variant

Author

Hoorntje, Edgar T., primary, Burns, Charlotte, additional, Marsili, Luisa, additional, Corden, Ben, additional, Parikh, Victoria N., additional, te Meerman, Gerard J., additional, Gray, Belinda, additional, Adiyaman, Ahmet, additional, Bagnall, Richard D., additional, Barge-Schaapveld, Daniela Q.C.M., additional, van den Berg, Maarten P., additional, Bootsma, Marianne, additional, Bosman, Laurens P., additional, Correnti, Gemma, additional, Duflou, Johan, additional, Eppinga, Ruben N., additional, Fatkin, Diane, additional, Fietz, Michael, additional, Haan, Eric, additional, Jongbloed, Jan D.H., additional, Hauer, Arnaud D., additional, Lam, Lien, additional, van Lint, Freyja H.M., additional, Lota, Amrit, additional, Marcelis, Carlo, additional, McCarthy, Hugh J., additional, van Mil, Anneke M., additional, Oldenburg, Rogier A., additional, Pachter, Nicholas, additional, Planken, R. Nils, additional, Reuter, Chloe, additional, Semsarian, Christopher, additional, van der Smagt, Jasper J., additional, Thompson, Tina, additional, Vohra, Jitendra, additional, Volders, Paul G.A., additional, van Waning, Jaap I., additional, Whiffin, Nicola, additional, van den Wijngaard, Arthur, additional, Amin, Ahmad S., additional, Wilde, Arthur A.M., additional, van Woerden, Gijs, additional, Yeates, Laura, additional, Zentner, Dominica, additional, Ashley, Euan A., additional, Wheeler, Matthew T., additional, Ware, James S., additional, van Tintelen, J. Peter, additional, and Ingles, Jodie, additional

Published
2021
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50. Global approaches to cardiogenetic evaluation after sudden cardiac death in the young: A survey among healthcare professionals

Author

Genetica, Circulatory Health, van den Heuvel, Lieke M, Do, Judy, Yeates, Laura, MacLeod, Heather, James, Cynthia A, Duflou, Johan, Skinner, Jonathan R, Semsarian, Christopher, van Tintelen, J Peter, Ingles, Jodie, Genetica, Circulatory Health, van den Heuvel, Lieke M, Do, Judy, Yeates, Laura, MacLeod, Heather, James, Cynthia A, Duflou, Johan, Skinner, Jonathan R, Semsarian, Christopher, van Tintelen, J Peter, and Ingles, Jodie

Published
2021

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