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, http://dx.doi.org/10.1007/978-1-4939-2169-0_8

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, edn. Original, 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, http://dx.doi.org/10.1007/978-0-387-09606-3_5

Journal articles

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, vol. 24, pp. 49, http://dx.doi.org/10.1186/s12859-023-05154-x

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, vol. 16, 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, vol. 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, vol. 130, pp. 28 - 31, http://dx.doi.org/10.1016/j.diff.2022.12.003

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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 633, pp. 114409, 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 13, pp. E003030, http://dx.doi.org/10.1161/CIRCGEN.120.003030

Martin EMMA; Enriquez A; Sparrow DB; Humphreys DT; McInerney-Leo AM; Leo PJ; Duncan EL; Iyer KR; Greasby JA; Ip E; Giannoulatou E; Sheng D; Wohler E; Dimartino C; Amiel J; Capri Y; Lehalle D; Mory A; Wilnai Y; Lebenthal Y; Gharavi AG; Krzemień GG; Miklaszewska M; Steiner RD; Raggio C; Blank R; Baris Feldman H; Milo Rasouly H; Sobreira NLM; Jobling R; Gordon CT; Giampietro PF; Dunwoodie SL; Chapman G, 2020, 'Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice', Human Molecular Genetics, vol. 29, pp. 3662 - 3678, http://dx.doi.org/10.1093/hmg/ddaa258

Vanyai HK; Prin F; Guillermin O; Marzook B; Boeing S; Howson A; Saunders RE; Snoeks T; Howell M; Mohun TJ; Thompson B, 2020, 'Control of skeletal morphogenesis by the Hippo-YAP/TAZ pathway.', Development, vol. 147, http://dx.doi.org/10.1242/dev.187187

Dunwoodie SL; Wallingford JB, 2020, 'Diseases of development: Leveraging developmental biology to understand human disease', Development (Cambridge), vol. 147, http://dx.doi.org/10.1242/dev.197863

McRae HM; Eccles S; Whitehead L; Alexander WS; Gécz J; Thomas T; Voss AK, 2020, 'Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome.', Development, vol. 147, http://dx.doi.org/10.1242/dev.187021

Bruneau BG, 2020, 'The developing heart: from The Wizard of Oz to congenital heart disease.', Development, vol. 147, http://dx.doi.org/10.1242/dev.194233

Bagnat M; Gray RS, 2020, 'Development of a straight vertebrate body axis.', Development, vol. 147, http://dx.doi.org/10.1242/dev.175794

Link N; Bellen HJ, 2020, 'Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases.', Development, vol. 147, http://dx.doi.org/10.1242/dev.191411

Pong Ng H; Kim GD; Ricky Chan E; Dunwoodie SL; Mahabeleshwar GH, 2020, 'CITED2 limits pathogenic inflammatory gene programs in myeloid cells', FASEB Journal, vol. 34, pp. 12100 - 12113, http://dx.doi.org/10.1096/fj.202000864R

Al Dhaheri N; Wu N; Zhao S; Wu Z; Blank RD; Zhang J; Raggio C; Halanski M; Shen J; Noonan K; Qiu G; Nemeth B; Sund S; Dunwoodie SL; Chapman G; Glurich I; Steiner RD; Wohler E; Martin R; Sobreira NL; Giampietro PF, 2020, 'KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations', American Journal of Medical Genetics, Part A, vol. 182, pp. 1664 - 1672, http://dx.doi.org/10.1002/ajmg.a.61607

Back to profile page