Items where Author is "Dunwoodie, Sally L."

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Number of items: 28.

Article

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

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

This list was generated on Tue Mar 5 02:12:38 2024 AEDT.