Items where Author is "Dunwoodie, Sally L."

Shen, Sophie and Werner, Tessa and Lukowski, Samuel W. and Andersen, Stacey and Sun, Yuliangzi and Shim, Woo Jun and Mizikovsky, Dalia and Kobayashi, Sakurako and Outhwaite, Jennifer and Chiu, Han Sheng and Chen, Xiaoli and Chapman, Gavin and Martin, Ella M. M. A. and Xia, Di and Pham, Duy and Su, Zezhuo and Kim, Daniel and Yang, Pengyi and Tan, Men Chee and Sinniah, Enakshi and Zhao, Qiongyi and Negi, Sumedha and Redd, Meredith A. and Powell, Joseph E. and Dunwoodie, Sally L. and Tam, Patrick P. L. and Bodén, Mikael and Ho, Joshua W. K. and Nguyen, Quan and Palpant, Nathan J. (2025) Atlas of multilineage stem cell differentiation reveals TMEM88 as a developmental regulator of blood pressure. Nature Communications, 16 (1). ISSN 2041-1723

Hilton, Desiree C.K. and O’Malley, Bridget R. and Cole, Andrew D. and Harvey, Richard P. and Dunwoodie, Sally L. and Sholler, Gary F. and Winlaw, David S. and Blue, Gillian M. (2024) The Kids Heart BioBank: supporting 20 years of patient care and research into CHD. Cardiology in the Young, 34 (8). pp.1645-1652. ISSN 1047-9511

Tarr, Ingrid and Hesselson, Stephanie and Troup, Michael and Young, Paul and Thompson, Jamie-Lee and McGrath-Cadell, Lucy and Fatkin, Diane and Dunwoodie, Sally L. and Muller, David W. M. and Iismaa, Siiri E. and Kovacic, Jason C. and Graham, Robert M. and Giannoulatou, Eleni (2024) Polygenic Risk in Families With Spontaneous Coronary Artery Dissection. JAMA Cardiology, 9 (3). p. 254. ISSN 2380-6583

Szot, Justin O. and Cuny, Hartmut and Martin, Ella M.M.A. and Sheng, Delicia Z. and Iyer, Kavitha and Portelli, Stephanie and Nguyen, Vivien and Gereis, Jessica M. and Alankarage, Dimuthu and Chitayat, David and Chong, Karen and Wentzensen, Ingrid M. and Vincent-Delormé, Catherine and Lermine, Alban and Burkitt-Wright, Emma and Ji, Weizhen and Jeffries, Lauren and Pais, Lynn S. and Tan, Tiong Y. and Pitt, James and Wise, Cheryl A. and Wright, Helen and Andrews, Israel D. and Pruniski, Brianna and Grebe, Theresa A. and Corsten-Janssen, Nicole and Bouman, Katelijne and Poulton, Cathryn and Prakash, Supraja and Keren, Boris and Brown, Natasha J. and Hunter, Matthew F. and Heath, Oliver and Lakhani, Saquib A. and McDermott, John H. and Ascher, David B. and Chapman, Gavin and Bozon, Kayleigh and Dunwoodie, Sally L. (2024) A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. Journal of Clinical Investigation, 134 (4). ISSN 1558-8238

Austin, Rachel and Brown, Jaye S. and Casauria, Sarah and Madelli, Evanthia O. and Mattiske, Tessa and Boughtwood, Tiffany and Metke, Alejandro and Davis, Andrew and Horton, Ari E. and Winlaw, David and Das, Debjani and Soka, Magdalena and Giannoulatou, Eleni and Rath, Emma M. and Haan, Eric and Blue, Gillian M. and Vohra, Jitendra and Atherton, John J. and van Spaendonck-Zwarts, Karin and Cox, Kathy and Burnett, Leslie and Wallis, Mathew and Haas, Matilda and Quinn, Michael C.J. and Pachter, Nicholas and Poplawski, Nicola K. and Stark, Zornitza and Bagnall, Richard D. and Weintraub, Robert G. and Pantaleo, Sarah-Jane and Lunke, Sebastian and De Fazio, Paul and Thompson, Tina and James, Paul and Chang, Yuchen and Fatkin, Diane and Macciocca, Ivan and Ingles, Jodie and Dunwoodie, Sally L. and Semsarian, Chris and McGaughran, Julie and Ades, Lesley and Enriquez, Annabel and McLean, Alison and Smyth, Renee and Alankarage, Dimithu and Fatkin, Diane and McNamara, James and Soka, Magdalena and Almog, Morgan and Fear, Vanessa and Medi, Caroline and Stark, Zornitza and Al-Shinnag, Mohammad and Fine, Miriam and Metke, Alejandro and Sy, Raymond and Atherton, John J. and Finlay, Keri and Milnes, Di and Tang, Dotti and Austin, Rachel and Garza, Denisse and Milward, Michael and Taylor, Jessica and Bagnall, Richard D. and Giannoulatou, Eleni and Morrish, Ansley and Taylor, Shelby and Barnett, Chris and Gongolidis, Laura and Morwood, Jim and Tchan, Michel and Blue, Gillian M. and Gray, Belinda and Mountain, Helen and Thompson, Tina and Bodek, Simon and Greer, Cassie and Mowat, David and Thorpe, Jordan and Boggs, Kirsten and Haan, Eric and Ng, Chai-Ann and Trainer, Alison and Bogwitz, Michael and Haas, Mathilda and Nowak, Natalie and Trivedi, Gunjan and Boughtwood, Tiffany and Hanna, Bernadette and Martinez, Noelia Nunez and Valente, Giulia and Bray, Alessandra and Harvey, Richard and Ohanian, Monique and van Spaendonck-Zwarts, Karin and Brion, Marie-Jo and Hayward, Janette and O’Sullivan, Sinead and Vandenberg, Jamie and Brown, Jaye and Herrera, Carmen and Overkov, Angela and Verma, Kunal and Richardson, Rob Bryson and Hill, Adam and Pachter, Nicholas and Vidgen, Miranda and Burnett, Leslie and Hollingsworth, Georgie and Patel, Chirag and Vohra, Jitendra and Burns, Charlotte and Hollway, Georgina and Perrin, Mark and Waddel-Smith, Kathryn and Cao, Michelle and Horton, Ari E. and Perry, Matthew and Wallis, Mathew and Carr, Will and Howting, Denise and Pflaumer, Andreas and Weintraub, Robert G. and Casauria, Sarah and Ingles, Jodie and Phillips, Peta and Wilson, Meredith and Chalinor, Heather and Isbister, Joanne and Phuong, Thuan and Winlaw, David and Chang, Yuchen and Jackson, Matilda and Pope-Couston, Rachel and Worgan, Lisa and Chapman, Gavin and James, Paul and Poplawski, Nicola K. and Wornham, Linda and Charitou, Theosodia and Jane-Pantaleo, Sarah and Punni, Preeti and Wu, Kathy and Chong, Belinda and Johnson, Renee and Quinn, Michael C.J. and Yeates, Laura and Collins, Felicity and Kelly, Andrew and Quinn, Michael and Zentner, Dominica and Correnti, Gemma and King-Smith, Sarah and Rajagopalan, Sulekha and Cox, Kathy and Kirk, Edwin and Raju, Hariharan and Cunningham, Fiona and Kummerfeld, Sarah and Rath, Emma M. and Das, Debjani and Lassman, Timo and Regan, Matthew and Davis, Jason and Lipton, Jonathon and Rogers, Jonathan and Davis, Andrew and Lunke, Sebastian and Ryan, Mark and De Fazio, Paul and Macciocca, Ivan and Sandaradura, Sarah and de Silva, Michelle and MacIntyre, Paul and Schonrock, Nicole and Den Elzen, Nicola and Madelli, Evanthia O. and Scuffham, Paul and Devery, Sophie and Mallawaarachchi, Amali and Semsarian, Chris and Dobbins, Julia and Mansour, Julia and Sherburn, Isabella and Dunwoodie, Sally L. and Martin, Ellenore and Sherlock, Mary-Clare and Dwyer, Nathan and Mathew, Jacob and Singer, Emma and Elbracht-Leong, Stefanie and Mattiske, Tessa and Smerdon, Carla and Elliott, David and McGaughran, Julie and Smith, Janine (2024) A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship. Genetics in Medicine Open, 2. p. 101842. ISSN 29497744

Gudkov, Mikhail and Thibaut, Loïc and Khushi, Matloob and Blue, Gillian M. and Winlaw, David S. and Dunwoodie, Sally L. and Giannoulatou, Eleni (2023) ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data. BMC Bioinformatics, 24 (1). ISSN 1471-2105

Behringer, Richard R. and McKinnell, Robert G. and Viza, Dimitri and Perantoni, Alan O. and Robertson, Elizabeth J. and Dunwoodie, Sally L. and Lewandoski, Mark (2023) The International Society of Differentiation: Past, present, and future. Differentiation, 130. pp.28-31. ISSN 03014681

Zafar, Atif and Ng, Hang Pong and Chan, E. Ricky and Dunwoodie, Sally L. and Mahabeleshwar, Ganapati H. (2023) Myeloid-CITED2 Deficiency Exacerbates Diet-Induced Obesity and Pro-Inflammatory Macrophage Response. Cells, 12 (17). p. 2136. ISSN 2073-4409

Dunwoodie, Sally L. and Bozon, Kayleigh and Szot, Justin O. and Cuny, Hartmut (2023) Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development. Antioxidants & Redox Signaling, 39 (16-18). pp.1108-1132. ISSN 1523-0864

Ip, Eddie K. K. and Troup, Michael and Xu, Colin and Winlaw, David S. and Dunwoodie, Sally L. and Giannoulatou, Eleni (2022) Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application. Frontiers in Genetics, 13. ISSN 1664-8021

Yang, Andrian and Alankarage, Dimuthu and Cuny, Hartmut and Ip, Eddie K.K. and Almog, Moran and Lu, Jessica and Das, Debjani and Enriquez, Annabelle and Szot, Justin O. and Humphreys, David T. and Blue, Gillian M. and Ho, Joshua W.K. and Winlaw, David S. and Dunwoodie, Sally L. and Giannoulatou, Eleni (2022) CHDgene: A Curated Database for Congenital Heart Disease Genes. Circulation: Genomic and Precision Medicine, 15 (3). ISSN 2574-8300

Tarr, Ingrid and Hesselson, Stephanie and Iismaa, Siiri E. and Rath, Emma and Monger, Steven and Troup, Michael and Mishra, Ketan and Wong, Claire M.Y. and Hsu, Pei-Chen and Junday, Keerat and Humphreys, David T. and Adlam, David and Webb, Tom R. and Baranowska-Clarke, Anna A. and Hamby, Stephen E. and Carss, Keren J. and Samani, Nilesh J. and Bax, Monique and McGrath-Cadell, Lucy and Kovacic, Jason C. and Dunwoodie, Sally L. and Fatkin, Diane and Muller, David W.M. and Graham, Robert M. and Giannoulatou, Eleni (2022) Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing. Circulation: Genomic and Precision Medicine, 15 (4). ISSN 2574-8300

Janbandhu, Vaibhao and Tallapragada, Vikram and Patrick, Ralph and Li, Yanzhen and Abeygunawardena, Dhanushi and Humphreys, David T. and Martin, Ella M.M.A. and Ward, Alexander O. and Contreras, Osvaldo and Farbehi, Nona and Yao, Ernestene and Du, Junjie and Dunwoodie, Sally L. and Bursac, Nenad and Harvey, Richard P. (2022) Hif-1a suppresses ROS-induced proliferation of cardiac fibroblasts following myocardial infarction. Cell Stem Cell, 29 (2). pp. 281-297.e12. ISSN 19345909

Blue, Gillian M. and Ip, Eddie K.K. and Troup, Michael and Dale, Russell C. and Sholler, Gary F. and Harvey, Richard P. and Dunwoodie, Sally L. and Giannoulatou, Eleni and Winlaw, David S. (2022) Insights into the genetic architecture underlying complex, critical congenital heart disease. American Heart Journal, 254. pp.166-171. ISSN 00028703

Cuny, Hartmut and Bozon, Kayleigh and Kirk, Rosemary B. and Sheng, Delicia Z. and Bröer, Stefan and Dunwoodie, Sally L. (2022) Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice. Disease Models & Mechanisms, 16 (5). ISSN 1754-8403

Alankarage, Dimuthu and Enriquez, Annabelle and Steiner, Robert D. and Raggio, Cathy and Higgins, Megan and Milnes, Di and Humphreys, David T. and Duncan, Emma L. and Sparrow, Duncan B. and Giampietro, Philip F. and Chapman, Gavin and Dunwoodie, Sally L. (2022) Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors. Differentiation, 128. pp.1-12. ISSN 03014681

Janbandhu, Vaibhao and Martin, Ella M.M.A. and Chapman, Gavin and Dunwoodie, Sally L. and Harvey, Richard P. (2022) Quantitative 3D analysis and visualization of cardiac fibrosis by microcomputed tomography. STAR Protocols, 3 (1). p. 101055. ISSN 26661667

Mark, Paul R. and Dunwoodie, Sally L. (2022) Viewing teratogens through the lens of nicotinamide adenine dinucleotide ( NAD +). Birth Defects Research, 114 (20). pp.1313-1323. ISSN 2472-1727

Blue, Gillian M. and Mekel, Mauk and Das, Debjani and Troup, Michael and Rath, Emma and Ip, Eddie and Gudkov, Mikhail and Perumal, Gopinath and Harvey, Richard P. and Sholler, Gary F. and Gecz, Jozef and Kirk, Edwin P. and Liu, Jinfen and Giannoulatou, Eleni and Hong, Haifa and Dunwoodie, Sally L. and Winlaw, David S. (2022) Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes. American Heart Journal, 244. pp.1-13. ISSN 00028703

Ward, Alexander O. and Janbandhu, Vaibhao and Chapman, Gavin and Dunwoodie, Sally L. and Harvey, Richard P. (2022) An image analysis protocol using CellProfiler for automated quantification of post-ischemic cardiac parameters. STAR Protocols, 3 (1). p. 101097. ISSN 26661667

Morrish, Ansley M. and Smith, Janine and Enriquez, Annabelle and Sholler, Gary F. and Mervis, Jonathan and Dunwoodie, Sally L. and Kirk, Edwin P. and Winlaw, David S. and Blue, Gillian M. (2022) A new era of genetic testing in congenital heart disease: A review. Trends in Cardiovascular Medicine, 32 (5). pp.311-319. ISSN 10501738

Zafar, Atif and Pong Ng, Hang and Diamond‐Zaluski, Rachel and Kim, Gun‐Dong and Ricky Chan, Ernest and Dunwoodie, Sally L. and Smith, Jonathan D. and Mahabeleshwar, Ganapati H. (2021) CITED2 inhibits STAT1‐IRF1 signaling and atherogenesis. The FASEB Journal, 35 (9). ISSN 0892-6638

Arkell, Ruth M. and Dunwoodie, Sally L. and Hadjantonakis, Anna-Katerina and Robertson, Elizabeth J. (2021) Kathryn V. Anderson (1952–2020). Nature Cell Biology, 23 (2). pp.109-110. ISSN 1465-7392

Szot, Justin O. and Slavotinek, Anne and Chong, Karen and Brandau, Oliver and Nezarati, Marjan and Cueto‐González, Anna M. and Patel, Millan S. and Devine, Walter P. and Rego, Shannon and Acyinena, Alicia P. and Shannon, Patrick and Myles‐Reid, Diane and Blaser, Susan and Mieghem, Tim V. and Yavuz‐Kienle, Halenur and Skladny, Heyko and Miller, Kristen and Riera, Miereia D. T. and Martínez, Silvia A. and Tizzano, Eduardo F. and Dupuis, Lucie and James Stavropoulos, Dimitri and McNiven, Vanda and Mendoza‐Londono, Roberto and Elliott, Alison M. and Phillips, Robert S. and Chapman, Gavin and Dunwoodie, Sally L. (2021) New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Human Mutation, 42 (7). pp.862-876. ISSN 1059-7794

Semsarian, Christopher and Ingles, Jodie and Ross, Samantha Barratt and Dunwoodie, Sally L. and Bagnall, Richard D. and Kovacic, Jason C. (2021) Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes. Journal of the American College of Cardiology, 77 (20). pp.2517-2530. ISSN 07351097

Cuny, Hartmut and Kristianto, Esther and Hodson, Mark P. and Dunwoodie, Sally L. (2021) Simultaneous quantification of 26 NAD-related metabolites in plasma, blood, and liver tissue using UHPLC-MS/MS. Analytical Biochemistry, 633. p. 114409. ISSN 00032697

Pong Ng, Hang and Kim, Gun‐Dong and Ricky Chan, E. and Dunwoodie, Sally L. and Mahabeleshwar, Ganapati H. (2020) CITED2 limits pathogenic inflammatory gene programs in myeloid cells. The FASEB Journal. ISSN 0892-6638

van de Putte, Romy and Dworschak, Gabriel C. and Brosens, Erwin and Reutter, Heiko M. and Marcelis, Carlo L. M. and Acuna-Hidalgo, Rocio and Kurtas, Nehir E. and Steehouwer, Marloes and Dunwoodie, Sally L. and Schmiedeke, Eberhard and Märzheuser, Stefanie and Schwarzer, Nicole and Brooks, Alice S. and de Klein, Annelies and Sloots, Cornelius E. J. and Tibboel, Dick and Brisighelli, Giulia and Morandi, Anna and Bedeschi, Maria F. and Bates, Michael D. and Levitt, Marc A. and Peña, Alberto and de Blaauw, Ivo and Roeleveld, Nel and Brunner, Han G. and van Rooij, Iris A. L. M. and Hoischen, Alexander (2020) A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. Frontiers in Pediatrics, 8. p. 310. ISSN 2296-2360

Szot, Justin O. and Campagnolo, Carla and Cao, Ye and Iyer, Kavitha R. and Cuny, Hartmut and Drysdale, Thomas and Flores-Daboub, Josue A. and Bi, Weimin and Westerfield, Lauren and Liu, Pengfei and Leung, Tse Ngong and Choy, Kwong Wai and Chapman, Gavin and Xiao, Rui and Siu, Victoria M. and Dunwoodie, Sally L. (2020) Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. The American Journal of Human Genetics, 106 (1). pp.129-136. ISSN 00029297

Dunwoodie, Sally L. and Wallingford, John B. and Dunwoodie, Sally and Wallingford, John (2020) Diseases of development: leveraging developmental biology to understand human disease. Development, 147 (21). ISSN 0950-1991

Al Dhaheri, Noura and Wu, Nan and Zhao, Sen and Wu, Zhihong and Blank, Robert D. and Zhang, Jianguo and Raggio, Cathy and Halanski, Matthew and Shen, Jianxiong and Noonan, Ken and Qiu, Guixing and Nemeth, Blaise and Sund, Sarah and Dunwoodie, Sally L. and Chapman, Gavin and Glurich, Ingrid and Steiner, Robert D. and Wohler, Elizabeth and Martin, Renan and Sobreira, Nara Lygia and Giampietro, Philip F. (2020) KIAA1217 : A novel candidate gene associated with isolated and syndromic vertebral malformations. American Journal of Medical Genetics Part A. ISSN 1552-4825

Cuny, Hartmut and Rapadas, Melissa and Gereis, Jessica and Martin, Ella M. M. A. and Kirk, Rosemary B. and Shi, Hongjun and Dunwoodie, Sally L. (2020) NAD deficiency due to environmental factors or gene–environment interactions causes congenital malformations and miscarriage in mice. Proceedings of the National Academy of Sciences. p. 201916588. ISSN 0027-8424

Carss, Keren J. and Baranowska, Anna A. and Armisen, Javier and Webb, Tom R. and Hamby, Stephen E. and Premawardhana, Diluka and Al-Hussaini, Abtehale and Wood, Alice and Wang, Quanli and Deevi, Sri V. V. and Vitsios, Dimitrios and Lewis, Samuel H. and Kotecha, Deevia and Bouatia-Naji, Nabila and Hesselson, Stephanie and Iismaa, Siiri E. and Tarr, Ingrid and McGrath-Cadell, Lucy and Muller, David W. and Dunwoodie, Sally L. and Fatkin, Diane and Graham, Robert M. and Giannoulatou, Eleni and Samani, Nilesh J. and Petrovski, Slavé and Haefliger, Carolina and Adlam, David (2020) Spontaneous Coronary Artery Dissection. Circulation: Genomic and Precision Medicine, 13 (6). ISSN 2574-8300

Ip, Eddie and Chapman, Gavin and Winlaw, David and Dunwoodie, Sally L. and Giannoulatou, Eleni (2019) VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants. Genomics, Proteomics & Bioinformatics. ISSN 16720229

Huang, Tianwen and González, Yasmilde Rodríguez and Qu, Dianbo and Huang, En and Safarpour, Farzaneh and Wang, Eugene and Joselin, Alvin and Im, Doo Soon and Callaghan, Steve M. and Boonying, Wassamon and Julian, Lisa and Dunwoodie, Sally L. and Slack, Ruth S. and Park, David S. (2019) The pro-death role of Cited2 in stroke is regulated by E2F1/4 transcription factors. Journal of Biological Chemistry, 294 (21). pp.8617-8629. ISSN 0021-9258