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

Turnpenny PD; Kusumi, K; Dunwoodie S, 2008, 'DLL3, MESP2, and LFNG and Spondylocostal Dysostosis', in Inborn Errors Of Development, Oxford University PressNew York, NY, pp. 560 - 572, http://dx.doi.org/10.1093/oso/9780195306910.003.0056

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

Shen S; Werner T; Lukowski SW; Andersen S; Sun Y; Shim WJ; Mizikovsky D; Kobayashi S; Outhwaite J; Chiu HS; Chen X; Chapman G; Martin EMMA; Xia D; Pham D; Su Z; Kim D; Yang P; Tan MC; Sinniah E; Zhao Q; Negi S; Redd MA; Powell JE; Dunwoodie SL; Tam PPL; Bodén M; Ho JWK; Nguyen Q; Palpant NJ, 2025, 'Atlas of multilineage stem cell differentiation reveals TMEM88 as a developmental regulator of blood pressure', Nature Communications, 16, http://dx.doi.org/10.1038/s41467-025-56533-2

Takebe N; Sugita Y; Takada S; Muraki K; Dunwoodie SL; Hojo M; Miyamoto S; Arakawa Y; Tanigaki K, 2025, 'Notch4 is essential for the maintenance of vascular homeostasis in the young adult pituitary posterior lobes', Scientific Reports, 15, http://dx.doi.org/10.1038/s41598-025-17225-5

Alankarage D; Leshchynska I; Portelli S; Sipka A; Blue GM; O'Reilly V; Das D; Rath EM; Enriquez A; Troup M; Fine M; Poplawski N; Verlee M; Humphreys DT; Harvey RP; Chapman G; Kirk EP; Winlaw DS; Callewaert B; Chung WK; Ascher D; Giannoulatou E; Dunwoodie SL, 2025, 'Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease', Human Genetics and Genomics Advances, 6, http://dx.doi.org/10.1016/j.xhgg.2025.100478

Gudkov M; Thibaut L; Monger S; Das D; Winlaw DS; Dunwoodie SL; Giannoulatou E; Dunwoodie SL; Winlaw DS; Giannoulatou E; Nassar N; Kirk E; Chapman G; Blue G; Sholler G; Lain S, 2025, 'Benchmarking of variant pathogenicity prediction methods using a population genetics approach', Bioinformatics Advances, http://dx.doi.org/10.1093/bioadv/vbaf227

Bozon K; Cuny H; Sheng DZ; Sipka A; Shand AW; Nassar N; Dunwoodie SL, 2025, 'Maternal Circulatory NAD Precursor Levels and the Yolk Sac Determine NAD Deficiency-Driven Congenital Malformation Risk', FASEB Journal, 39, http://dx.doi.org/10.1096/fj.202500708RR

Thompson JLM; Tarr IS; Rath EM; Troup M; Ip EKK; Dunwoodie SL; Winlaw D; Giannoulatoudslo E; Nassar N; Kirk E; Chapman G; Blue GM; Sholler G; Lain S; Winlaw DS; Giannoulatou E, 2025, 'Polygenic Inheritance for Common Comorbidities Associated With Congenital Heart Disease', Jacc Advances, 4, http://dx.doi.org/10.1016/j.jacadv.2025.101673

Bozon K; Cuny H; Sheng DZ; Martin EMMA; Sipka A; Young P; Humphreys DT; Dunwoodie SL, 2025, 'Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects', eLife, 13, http://dx.doi.org/10.7554/elife.97649.3

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

Scott HS; Matotek E; Mattiske T; Bryson-Richardson RJ; Smyth I; Gecz J; Christodoulou J; Palpant N; Smith K; Warr C; Bennetts B; Thomas P; Bowles J; Hilliard M; Hime G; Hool L; Quinn L; Wolvetang E; Jamieson R; Baynam G; Dudding-Byth T; Tan TY; Milnes D; Wallis M; Palmer E; Patel C; Jones K; Tam P; Stark Z; Dunwoodie S; Sinclair A, 2024, 'How the Australian Functional Genomics Network (AFGN) contributes to improved patient care', Pathology, 56, pp. S21 - S22, http://dx.doi.org/10.1016/j.pathol.2023.12.084

Banks JL; Choong L; Flaherty J; Kristianto E; Cuny H; Dunwoodie S; Hancock S; Turner N, 2024, 'Metabolic dysfunction ameliorated by reduced nicotinamide mononucleotide in high fat diet fed mice', Obesity Research & Clinical Practice, 18, pp. S6 - S6, http://dx.doi.org/10.1016/j.orcp.2024.09.014

Blue G; Nishide M; Hilton D; Sholler G; Winlaw D; Dunwoodie S; Nassar N; Lain S, 2024, 'Prenatal and Maternal Contributors to Disease Severity in Congenital Heart Disease', Heart, Lung and Circulation, 33, pp. S98 - S99, http://dx.doi.org/10.1016/j.hlc.2024.04.176

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 G; Hilton D; O'Malley B; Morrish A; Harvey R; Dunwoodie S; Sholler G; Winlaw D, 2023, 'The Kids Heart BioBank—Supporting Patient Care and Research Into Congenital Heart Disease', Heart, Lung and Circulation, 32, pp. S317 - S317, http://dx.doi.org/10.1016/j.hlc.2023.06.448

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

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