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

Wiszniak S; Alankarage D; Lohraseb I; Marchant C; Secker G; Domingo D; Hartmann J; Zhang T; Parker W; Toubia J; White M; Piltz S; Tondl M; Giannoulatou E; Winlaw D; Blue GM; Lain S; Sholler G; Nassar N; Chapman G; Kirk E; Tam PPL; Thomas P; Harvey N; Dunwoodie SL; Schwarz Q, 2026, 'Neural crest cell-derived DKK1 and NEDD4 modulate Wnt signalling in the second heart field to orchestrate outflow tract development', Nature Communications, 17, http://dx.doi.org/10.1038/s41467-026-68459-4

Lain SJ; He WQ; Blue GM; Winlaw DS; Sholler G; Kirk EP; Dunwoodie SL; Celermajer DS; Nassar N, 2026, 'Increased Risk of Disabilities in Children and Adolescents With Congenital Heart Disease of Any Severity', Journal of the American Heart Association, 15, pp. e047246, http://dx.doi.org/10.1161/JAHA.125.047246

Martin EMMA; Drover K; Shpak A; Horner NR; O'Reilly V; Cocking E; Greasby JA; Iyer KR; Dunwoodie SL; Winlaw DS; Giannoulatou E; Nassar N; Kirk E; Arkell R; Chapman G, 2026, 'Comprehensive defect detection in mouse embryos and the heart by combining automated phenotyping with novel population averages and atlases', Differentiation, 148, pp. 100936, http://dx.doi.org/10.1016/j.diff.2026.100936

Bozon K; Cuny H; Sunn N; Martin EMMA; Sheng DZ; Chapman G; Dunwoodie SL, 2026, 'Timing of NAD Deficiency During Organogenesis Dictates Defect Type and Penetrance', FASEB Journal, 40, http://dx.doi.org/10.1096/fj.202502824RRR

Nishide M; Hilton DCK; Sholler GF; Winlaw DS; Dunwoodie SL; Nassar N; Lain SJ; Blue GM, 2026, 'Prenatal and Maternal Contributors to Disease Severity in Congenital Heart Disease', Maternal and Child Health Journal, 30, pp. 199 - 205, http://dx.doi.org/10.1007/s10995-026-04233-8

Leshchynska I; Das D; O’Reilly V; Sipka A; Iyer K; Alankarage D; Rath E; Kumar A; Kurt BA; Voydanoff ME; Kirk E; Nassar N; Winlaw D; Stevenson RE; Winlaw DS; Ascher DB; Giannoulatou E; Mark PR; Dunwoodie SL; Chapman G, 2026, 'A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia', European Journal of Human Genetics, http://dx.doi.org/10.1038/s41431-026-02076-z

Chang Y; Rath EM; Soka M; Singer ES; Trivedi G; Burns C; Austin R; Boughtwood T; Brown JS; Casauria S; Chong B; Cvetkovska J; Dunwoodie SL; Lunke S; Mattiske T; McGaughran J; Pantaleo SJ; Quinn MCJ; Semsarian C; Macciocca I; Ingles J; Fatkin D; Giannoulatou E; Bagnall RD; Hill A; Metke A; Bray A; McLean A; Trainer A; Mallawaarachchi A; Pflaumer A; Davis A; Kelly A; Overkov A; Enriquez A; Morrish A; Horton AE; Chong B; Gray B; Hanna B; Smerdon C; Herrera C; Medi C; Greer C; Ng CA; Burns C; Patel C; Barnett C; Semsarian C; Elliott D; Mowat D; Winlaw D; Das D; Howting D; Garza D; Milnes D; Fatkin D; Alankarage D; Zentner D; Tang D; Kirk E; Giannoulatou E; Martin E; Rath EM; Singer ES; Haan E; Madelli EO; Collins F; Cunningham F; Chapman G; Correnti G; Hollingsworth G; Hollway G; Blue GM; Valente G; Trivedi G; Raju H; Chalinor H; Mountain H; Sherburn I; Mathew J; McNamara J; Vandenberg J; Hayward J; Smith J; Davis J; Brown J; Taylor J; Morwood J; Vohra J; Isbister J; Ingles J; Atherton JJ; Rogers J; Lipton J; Thorpe J; Dobbins J; Mansour J; McGaughran J, 2026, 'Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses', Genetics in Medicine, 28, http://dx.doi.org/10.1016/j.gim.2025.101626

Johnson R; Fletcher RA; Peters S; Ohanian M; Soka M; Smolnikov A; Abihider KE; Ackerman MJ; Ader F; Akhtar MM; Amin AS; Ashley EA; Atherton JJ; Austin R; Baas AF; Bagnall RD; Ross SB; Blouin JL; Brown EE; Bundgaard H; Cannie D; Chmielewski P; Correnti G; Crespo-Leiro MG; Dal Ferro M; Dellefave-Castillo LM; Dominguez F; Dooijes D; Dybro AM; Ed Demri Y; El Hachmi M; Escobar-Lopez L; Foye SJ; Franaszczyk M; Gigli M; Lopez EG; Goudal A; Graw S; Guipponi M; Haan E; Haas J; Hammersley DJ; Hansen FG; Hayward CS; Hey TM; Heymans S; Ho CY; Houweling AC; Ingles J; Ingrey A; Jabbour A; James PA; Jansweijer JA; Jongbloed JDH; Keogh AM; Larrañaga-Moreira JM; Lekanne Deprez RH; Macciocca I; Macdonald PS; Mansencal N; Mansour J; Martinez-Veira C; Mcdonough B; Mcgaughran J; Medo K; Merlo M; Michalak E; Monserrat L; Mountain H; Muller SA; Murphy AM; Murray B; Oates EC; Ormondroyd E; Pachter N; Paldino A; Palmyre A; Pereira NL; Picard KC; Poplawski N; Prasad S; Proukhnitzky J; Pruny JF; Reant P; Richard P; Ronan A; Sedaghat-Hamedani F; Semsarian C; Storm G; Stroeks S; Syrris P; Taylor MRG; Thomson K; Thompson T; Van Tintelen JP; Vissing CR; Waddell-Smith KE; Wallis M; Zentner D; Arnott C, 2025, 'Titin-related familial dilated cardiomyopathy: factors associated with disease onset', European Heart Journal, 46, pp. 5240 - 5257, http://dx.doi.org/10.1093/eurheartj/ehaf380

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

Cuny H; Shand AW; Goth J; Sheng DZ; Tossey T; Martin EMMA; Sipka A; Aleshin O; Schneuer FJ; Nassar N; Dunwoodie SL, 2025, 'Identification of potential NAD-related biomarkers of recurrent miscarriage risk', Human Reproduction, 40, pp. 2247 - 2259, http://dx.doi.org/10.1093/humrep/deaf195

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

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, pp. e70834 - e70834, 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 G; Sholler G; Lain S; Blue GM; 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

Rath EM; Le H; Pyshnohraiev Y; Ranjitdev A; Stocker R; Yakovlev A; Dunwoodie SL; Winlaw DS; Giannoulatou E; Nassar N; Kirk E; Chapman G; Blue G; Sholler G; Lain S; Winlaw DS; Dunwoodie SL, 2025, 'Atlantool: A command line tool to retrieve DNA and RNA sequencing reads from BAM files by the read identifier', Bioinformatics Advances, 5, http://dx.doi.org/10.1093/bioadv/vbaf226

Gudkov M; Thibaut L; Monger S; Das D; Winlaw DS; Dunwoodie SL; 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, 5, http://dx.doi.org/10.1093/bioadv/vbaf227

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, pp. e174824, 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

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