By Professor Sally Dunwoodie

Books

Kusumi K; Dunwoodie SL, 2018, Preface, http://dx.doi.org/10.1007/978-3-319-90149-7

Kusumi K, 2010, Conclusion: Trends and Predictions for Genetic and Developmental Biological Research on Scoliosis, Kusumi K; Dunwoodie SL, (ed.), SPRINGER-VERLAG BERLIN, http://dx.doi.org/10.1007/978-1-4419-1406-4_10

Kusumi K; Dunwoodie SL, 2010, Preface, http://dx.doi.org/10.1007/978-1-4419-1406-4

Kusumi K; Dunwoodie SL, 2010, The genetics and development of scoliosis, http://dx.doi.org/10.1007/978-1-4419-1406-4

Book Chapters

Turnpenny PD; Kusumi K; Dunwoodie SL, 2016, 'DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2 and Spondylocostal Dysostosis', in Epstein's Inborn Errors of Development, Oxford University Press, pp. 559 - 570, http://dx.doi.org/10.1093/med/9780199934522.003.0074

Sparrow DB; Dunwoodie SL , 2015, 'Genetic and Environmental Interaction in Malformation of the Vertebral Column', in Wise C; Rios JJ (ed.), Molecular Genetics of Pediatric Orthopaedics, Springer Science+Business Media, pp. 131 - 151

Turnpenny PD, 2010, 'Abnormal Vertebral Segmentation (or Segmentation Defects of the Vertebrae) and the Spondylocostal Dysostoses', in Kusumi K; Dunwoodie SL (ed.), GENETICS AND DEVELOPMENT OF SCOLIOSIS, SPRINGER-VERLAG BERLIN, pp. 81 - 108, http://dx.doi.org/10.1007/978-1-4419-1406-4_5

Wise CA; Sharma S, 2010, 'Current Understanding of Genetic Factors in Idiopathic Scoliosis', in Kusumi K; Dunwoodie SL (ed.), GENETICS AND DEVELOPMENT OF SCOLIOSIS, SPRINGER-VERLAG BERLIN, pp. 167 - 190, http://dx.doi.org/10.1007/978-1-4419-1406-4_9

Rawls A; Fisher RE, 2010, 'Development and Functional Anatomy of the Spine', in Kusumi K; Dunwoodie SL (ed.), GENETICS AND DEVELOPMENT OF SCOLIOSIS, SPRINGER-VERLAG BERLIN, pp. 21 - 46, http://dx.doi.org/10.1007/978-1-4419-1406-4_2

Alexander PG; Tuan RS, 2010, 'Environmental Factors and Axial Skeletal Dysmorphogenesis', in Kusumi K; Dunwoodie SL (ed.), GENETICS AND DEVELOPMENT OF SCOLIOSIS, SPRINGER-VERLAG BERLIN, pp. 47 - 72, http://dx.doi.org/10.1007/978-1-4419-1406-4_3

Kusumi K; Eckalbar W; Pourquie O, 2010, 'Genetic Regulation of Somite and Early Spinal Patterning', in Kusumi K; Dunwoodie SL (ed.), GENETICS AND DEVELOPMENT OF SCOLIOSIS, SPRINGER-VERLAG BERLIN, pp. 1 - 20, http://dx.doi.org/10.1007/978-1-4419-1406-4_1

Miller NH, 2010, 'Genetics and Functional Pathology of Idiopathic Scoliosis', in Kusumi K; Dunwoodie SL (ed.), GENETICS AND DEVELOPMENT OF SCOLIOSIS, SPRINGER-VERLAG BERLIN, pp. 153 - 166, http://dx.doi.org/10.1007/978-1-4419-1406-4_8

Alman B, 2010, 'Overview and Comparison of Idiopathic, Neuromuscular, and Congenital Forms of Scoliosis', in Kusumi K; Dunwoodie SL (ed.), GENETICS AND DEVELOPMENT OF SCOLIOSIS, SPRINGER-VERLAG BERLIN, pp. 73 - 79, http://dx.doi.org/10.1007/978-1-4419-1406-4_4

Giampietro PF, 2010, 'Progress in Understanding Genetic Contributions in Syndromic and Non-Syndromic Disorders Associated with Congenital, Neuromuscular, and Idiopathic Scoliosis', in Kusumi K; Dunwoodie SL (ed.), GENETICS AND DEVELOPMENT OF SCOLIOSIS, SPRINGER-VERLAG BERLIN, pp. 127 - 152, http://dx.doi.org/10.1007/978-1-4419-1406-4_7

Cornier AS, 2010, 'Spondylothoracic Dysostosis in Puerto Rico', in Kusumi K; Dunwoodie SL (ed.), GENETICS AND DEVELOPMENT OF SCOLIOSIS, SPRINGER-VERLAG BERLIN, pp. 109 - 126, http://dx.doi.org/10.1007/978-1-4419-1406-4_6

Chapman G; Dunwoodie SL, 2010, 'Role of Delta-like-3 in mammalian somitogenesis and vertebral column formation', in Advances in Experimental Medicine and Biology, Springer New York LLC, United States, pp. 95 - 112, http://www.springer.com/series/5584

Chapman G; Dunwoodie SL, 2008, 'Role of Delta-like-3 in mammalian somitogenesis and vertebral column formation', in Advances in Experimental Medicine and Biology, Springer New York LLC, United States, pp. 95 - 112

Journal articles

Hilton DCK; O'Malley BR; Cole AD; Harvey RP; Dunwoodie SL; Sholler GF; Winlaw DS; Blue GM, 2024, 'The Kids Heart BioBank: Supporting 20 years of patient care and research into CHD', Cardiology in the Young, 34, pp. 1645 - 1652, http://dx.doi.org/10.1017/S1047951124025654

Tarr I; Hesselson S; Troup M; Young P; Thompson JL; McGrath-Cadell L; Fatkin D; Dunwoodie SL; Muller DWM; Iismaa SE; Kovacic JC; Graham RM; Giannoulatou E, 2024, 'Polygenic Risk in Families with Spontaneous Coronary Artery Dissection', JAMA Cardiology, 9, pp. 254 - 261, http://dx.doi.org/10.1001/jamacardio.2023.5194

Szot JO; Cuny H; Martin EMMA; Sheng DZ; Iyer K; Portelli S; Nguyen V; Gereis JM; Alankarage D; Chitayat D; Chong K; Wentzensen IM; Vincent-Delormé C; Lermine A; Burkitt-Wright E; Ji W; Jeffries L; Pais LS; Tan TY; Pitt J; Wise CA; Wright H; Andrews ID; Pruniski B; Grebe TA; Corsten-Janssen N; Bouman K; Poulton C; Prakash S; Keren B; Brown NJ; Hunter MF; Heath O; Lakhani SA; McDermott JH; Ascher DB; Chapman G; Bozon K; Dunwoodie SL, 2024, 'A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder', Journal of Clinical Investigation, 134, http://dx.doi.org/10.1172/JCI174824

Austin R; Brown JS; Casauria S; Madelli EO; Mattiske T; Boughtwood T; Metke A; Davis A; Horton AE; Winlaw D; Das D; Soka M; Giannoulatou E; Rath EM; Haan E; Blue GM; Vohra J; Atherton JJ; van Spaendonck-Zwarts K; Cox K; Burnett L; Wallis M; Haas M; Quinn MCJ; Pachter N; Poplawski NK; Stark Z; Bagnall RD; Weintraub RG; Pantaleo SJ; Lunke S; De Fazio P; Thompson T; James P; Chang Y; Fatkin D; Macciocca I; Ingles J; Dunwoodie SL; Semsarian C; McGaughran J; Ades L; Enriquez A; McLean A; Smyth R; Alankarage D; McNamara J; Morgan almog ; Fear V; Medi C; Al-Shinnag M; Fine M; Sy R; Finlay K; Milnes D; Tang D; Garza D; Milward M; Taylor J; Morrish A; Taylor S; Barnett C; Gongolidis L; Morwood J; Tchan M; Gray B; Mountain H; Bodek S; Greer C; Mowat D; Thorpe J; Boggs K; Ng CA; Trainer A; Bogwitz M; Haas M; Nowak N; Trivedi G; Hanna B; Martinez NN; Valente G; Bray A; Harvey R; Ohanian M; Brion MJ; Hayward J; O'Sullivan S; Vandenberg J; Herrera C; Overkov A; Verma K; Richardson RB; Hill A; Vidgen M; Hollingsworth G; Patel C; Burns C; Hollway G; Perrin M, 2024, 'A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship', Genetics in Medicine Open, 2, http://dx.doi.org/10.1016/j.gimo.2024.101842

Gudkov M; Thibaut L; Khushi M; Blue GM; Winlaw DS; Dunwoodie SL; Giannoulatou E, 2023, 'ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data', BMC Bioinformatics, 24, http://dx.doi.org/10.1186/s12859-023-05154-x

Dunwoodie SL; Bozon K; Szot JO; Cuny H, 2023, 'Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development', Antioxidants and Redox Signaling, 39, pp. 1108 - 1132, http://dx.doi.org/10.1089/ars.2023.0349

Zafar A; Ng HP; Chan ER; Dunwoodie SL; Mahabeleshwar GH, 2023, 'Myeloid-CITED2 Deficiency Exacerbates Diet-Induced Obesity and Pro-Inflammatory Macrophage Response', Cells, 12, http://dx.doi.org/10.3390/cells12172136

Moradi Marjaneh M; Kirk EP; Patrick R; Alankarage D; Humphreys DT; Del Monte-Nieto G; Cornejo-Paramo P; Janbandhu V; Doan TB; Dunwoodie SL; Wong ES; Moran C; Martin ICA; Thomson PC; Harvey RP, 2023, 'Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line', eLife, 12, http://dx.doi.org/10.7554/eLife.83606

He WQ; Nassar N; Schneuer FJ; Lain SJ; Dunwoodie SL; Winlaw D; Giannoulatou E; Kirk E; Chapman G; Blue G; Sholler G, 2023, 'Examination of validity of identifying congenital heart disease from hospital discharge data without a gold standard: Using a data linkage approach', Paediatric and Perinatal Epidemiology, 37, pp. 303 - 312, http://dx.doi.org/10.1111/ppe.12976

Cuny H; Bozon K; Kirk RB; Sheng DZ; Bröer S; Dunwoodie SL, 2023, 'Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice', DMM Disease Models and Mechanisms, 16, pp. dmm049647, http://dx.doi.org/10.1242/dmm.049647

Stark Z; Boughtwood T; Haas M; Braithwaite J; Gaff CL; Goranitis I; Spurdle AB; Hansen DP; Hofmann O; Laing N; Metcalfe S; Newson AJ; Scott HS; Thorne N; Ward RL; Dinger ME; Best S; Long JC; Grimmond SM; Pearson J; Waddell N; Barnett CP; Cook M; Field M; Fielding D; Fox SB; Gecz J; Jaffe A; Leventer RJ; Lockhart PJ; Lunke S; Mallett AJ; McGaughran J; Mileshkin L; Nones K; Roscioli T; Scheffer IE; Semsarian C; Simons C; Thomas DM; Thorburn DR; Tothill R; White D; Dunwoodie S; Simpson PT; Phillips P; Brion MJ; Finlay K; Quinn MC; Mattiske T; Tudini E; Boggs K; Murray S; Wells K; Cannings J; Sinclair AH; Christodoulou J; North KN, 2023, 'Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare', American Journal of Human Genetics, 110, pp. 419 - 426, http://dx.doi.org/10.1016/j.ajhg.2023.01.018

Behringer RR; McKinnell RG; Viza D; Perantoni AO; Robertson EJ; Dunwoodie SL; Lewandoski M, 2023, 'The International Society of Differentiation: Past, present, and future', Differentiation, 130, pp. 28 - 31, http://dx.doi.org/10.1016/j.diff.2022.12.003

Lain SJ; Blue GM; O’Malley BR; Winlaw DS; Sholler G; Dunwoodie SL; Nassar N, 2023, 'Using novel data linkage of congenital heart disease biobank data with administrative health data to identify cardiovascular outcomes to inform genomic analysis', International Journal of Population Data Science, 8, http://dx.doi.org/10.23889/ijpds.v8i1.2150

Blue GM; Ip EKK; Troup M; Dale RC; Sholler GF; Harvey RP; Dunwoodie SL; Giannoulatou E; Winlaw DS, 2022, 'Insights into the genetic architecture underlying complex, critical congenital heart disease.', American Heart Journal, 254, pp. 166 - 171, http://dx.doi.org/10.1016/j.ahj.2022.09.006

Mark PR; Dunwoodie SL, 2022, 'Viewing teratogens through the lens of nicotinamide adenine dinucleotide (NAD+)', Birth Defects Research, 114, pp. 1313 - 1323, http://dx.doi.org/10.1002/bdr2.2089

Alankarage D; Enriquez A; Steiner RD; Raggio C; Higgins M; Milnes D; Humphreys DT; Duncan EL; Sparrow DB; Giampietro PF; Chapman G; Dunwoodie SL, 2022, 'Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors', Differentiation, 128, pp. 1 - 12, http://dx.doi.org/10.1016/j.diff.2022.09.002

Tarr I; Hesselson S; Iismaa SE; Rath E; Monger S; Troup M; Mishra K; Wong CMY; Hsu PC; Junday K; Humphreys DT; Adlam D; Webb TR; Baranowska-Clarke AA; Hamby SE; Carss KJ; Samani NJ; Bax M; McGrath-Cadell L; Kovacic JC; Dunwoodie SL; Fatkin D; Muller DWM; Graham RM; Giannoulatou E, 2022, 'Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing', Circulation: Genomic and Precision Medicine, 15, pp. 267 - 277, http://dx.doi.org/10.1161/CIRCGEN.121.003527

Yang A; Alankarage D; Cuny H; Ip EKK; Almog M; Lu J; Das D; Enriquez A; Szot JO; Humphreys DT; Blue GM; Ho JWK; Winlaw DS; Dunwoodie SL; Giannoulatou E, 2022, 'CHDgene: A Curated Database for Congenital Heart Disease Genes', Circulation: Genomic and Precision Medicine, 15, pp. E003539 - E003539, http://dx.doi.org/10.1161/CIRCGEN.121.003539

Ward AO; Janbandhu V; Chapman G; Dunwoodie SL; Harvey RP, 2022, 'An image analysis protocol using CellProfiler for automated quantification of post-ischemic cardiac parameters', STAR Protocols, 3, http://dx.doi.org/10.1016/j.xpro.2021.101097

Janbandhu V; Martin EMMA; Chapman G; Dunwoodie SL; Harvey RP, 2022, 'Quantitative 3D analysis and visualization of cardiac fibrosis by microcomputed tomography', STAR Protocols, 3, http://dx.doi.org/10.1016/j.xpro.2021.101055

Ip EKK; Troup M; Xu C; Winlaw DS; Dunwoodie SL; Giannoulatou E, 2022, 'Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application', Frontiers in Genetics, 13, http://dx.doi.org/10.3389/fgene.2022.692257

Janbandhu V; Tallapragada V; Patrick R; Li Y; Abeygunawardena D; Humphreys DT; Martin EMMA; Ward AO; Contreras O; Farbehi N; Yao E; Du J; Dunwoodie SL; Bursac N; Harvey RP, 2022, 'Hif-1a suppresses ROS-induced proliferation of cardiac fibroblasts following myocardial infarction', Cell Stem Cell, 29, pp. 281 - 297.e12, http://dx.doi.org/10.1016/j.stem.2021.10.009

Blue GM; Mekel M; Das D; Troup M; Rath E; Ip E; Gudkov M; Perumal G; Harvey RP; Sholler GF; Gecz J; Kirk EP; Liu J; Giannoulatou E; Hong H; Dunwoodie SL; Winlaw DS, 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, http://dx.doi.org/10.1016/j.ahj.2021.10.185

Cuny H; Kristianto E; Hodson MP; Dunwoodie SL, 2021, 'Simultaneous quantification of 26 NAD-related metabolites in plasma, blood, and liver tissue using UHPLC-MS/MS', Analytical Biochemistry, 633, http://dx.doi.org/10.1016/j.ab.2021.114409

Zafar A; Pong Ng H; Diamond-Zaluski R; Kim GD; Ricky Chan E; Dunwoodie SL; Smith JD; Mahabeleshwar GH, 2021, 'CITED2 inhibits STAT1-IRF1 signaling and atherogenesis', FASEB Journal, 35, http://dx.doi.org/10.1096/fj.202100792R

Szot JO; Slavotinek A; Chong K; Brandau O; Nezarati M; Cueto-González AM; Patel MS; Devine WP; Rego S; Acyinena AP; Shannon P; Myles-Reid D; Blaser S; Mieghem TV; Yavuz-Kienle H; Skladny H; Miller K; Riera MDT; Martínez SA; Tizzano EF; Dupuis L; James Stavropoulos D; McNiven V; Mendoza-Londono R; Elliott AM; Phillips RS; Chapman G; Dunwoodie SL, 2021, 'New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder', Human Mutation, 42, pp. 862 - 876, http://dx.doi.org/10.1002/humu.24211

Semsarian C; Ingles J; Ross SB; Dunwoodie SL; Bagnall RD; Kovacic JC, 2021, 'Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes: JACC Focus Seminar 1/5', Journal of the American College of Cardiology, 77, pp. 2517 - 2530, http://dx.doi.org/10.1016/j.jacc.2020.12.071

Arkell RM; Dunwoodie SL; Hadjantonakis AK; Robertson EJ, 2021, 'Kathryn V. Anderson (1952-2020)', Nature cell biology, 23, pp. 109 - 110, http://dx.doi.org/10.1038/s41556-021-00634-9

Morrish AM; Smith J; Enriquez A; Sholler GF; Mervis J; Dunwoodie SL; Kirk EP; Winlaw DS; Blue GM, 2021, 'A new era of genetic testing in congenital heart disease: A review', Trends in Cardiovascular Medicine, http://dx.doi.org/10.1016/j.tcm.2021.04.011

Alankarage D; Szot JO; Pachter N; Slavotinek A; Selleri L; Shieh JT; Winlaw D; Giannoulatou E; Chapman G; Dunwoodie SL, 2021, 'Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease', Human Molecular Genetics, 29, pp. 1068 - 1082, http://dx.doi.org/10.1093/HMG/DDZ231

Bax M; Junday K; Hesselson S; Iismaa S; Tarr I; McGrath-Cadell L; Dunwoodie S; Fatkin D; Kovacic J; Muller D; Giannoulatou E; Graham R, 2021, 'Modelling Spontaneous Coronary Artery Dissection With iPSC-Derived Vascular Cells', Heart, Lung and Circulation, 30, pp. S131 - S131, http://dx.doi.org/10.1016/j.hlc.2021.06.089

McGrath-Cadell L; Hesselson S; Tarr I; Iismaa S; Bax M; Junday K; Dunwoodie S; Fatkin D; Kovacic J; Muller D; Giannoulatou E; Graham B, 2021, 'Spontaneous Coronary Artery Dissection (SCAD) and a Family History of Aortic Artery Dissection—A Case Series', Heart, Lung and Circulation, 30, pp. S252 - S252, http://dx.doi.org/10.1016/j.hlc.2021.06.350

Carss KJ; Baranowska AA; Armisen J; Webb TR; Hamby SE; Premawardhana D; Al-Hussaini A; Wood A; Wang Q; Deevi SVV; Vitsios D; Lewis SH; Kotecha D; Bouatia-Naji N; Hesselson S; Iismaa SE; Tarr I; McGrath-Cadell L; Muller DW; Dunwoodie SL; Fatkin D; Graham RM; Giannoulatou E; Samani NJ; Petrovski S; Haefliger C; Adlam D, 2020, 'Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing', Circulation: Genomic and Precision Medicine, 13, pp. E003030, http://dx.doi.org/10.1161/CIRCGEN.120.003030

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