Select Publications

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,

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,

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,

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,

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,

Mark PR; Dunwoodie SL, 2022, 'Viewing teratogens through the lens of nicotinamide adenine dinucleotide (NAD+)', Birth Defects Research, vol. 114, pp. 1313 - 1323,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

Arkell RM; Dunwoodie SL; Hadjantonakis AK; Robertson EJ, 2021, 'Kathryn V. Anderson (1952-2020)', Nature cell biology, vol. 23, pp. 109 - 110,

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,

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,

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,

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,

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,

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,

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,

Dunwoodie SL; Wallingford JB, 2020, 'Diseases of development: Leveraging developmental biology to understand human disease', Development (Cambridge), vol. 147,

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,

Bruneau BG, 2020, 'The developing heart: from The Wizard of Oz to congenital heart disease.', Development, vol. 147,

Bagnat M; Gray RS, 2020, 'Development of a straight vertebrate body axis.', Development, vol. 147,

Link N; Bellen HJ, 2020, 'Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases.', Development, vol. 147,

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,

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,

van de Putte R; Dworschak GC; Brosens E; Reutter HM; Marcelis CLM; Acuna-Hidalgo R; Kurtas NE; Steehouwer M; Dunwoodie SL; Schmiedeke E; Märzheuser S; Schwarzer N; Brooks AS; de Klein A; Sloots CEJ; Tibboel D; Brisighelli G; Morandi A; Bedeschi MF; Bates MD; Levitt MA; Peña A; de Blaauw I; Roeleveld N; Brunner HG; van Rooij IALM; Hoischen A, 2020, 'A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies', Frontiers in Pediatrics, vol. 8,

Beckers A; Adis C; Schuster-Gossler K; Tveriakhina L; Ott T; Fuhl F; Hegermann J; Boldt K; Serth K; Rachev E; Alten L; Kremmer E; Ueffing M; Blum M; Gossler A, 2020, 'The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development.', Development, vol. 147,

Lee S; Sears MJ; Zhang Z; Li H; Salhab I; Krebs P; Xing Y; Nah H-D; Williams T; Carstens RP, 2020, 'Cleft lip and cleft palate in Esrp1 knockout mice is associated with alterations in epithelial-mesenchymal crosstalk.', Development, vol. 147,

Chapman G; Moreau JLM; I P E; Szot JO; Iyer KR; Shi H; Yam MX; O'Reilly VC; Enriquez A; Greasby JA; Alankarage D; Martin EMMA; Hanna BC; Edwards M; Monger S; Blue GM; Winlaw DS; Ritchie HE; Grieve SM; Giannoulatou E; Sparrow DB; Dunwoodie SL, 2020, 'Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants', Human Molecular Genetics, vol. 29, pp. 566 - 579,

Cuny H; Rapadas M; Gereis J; Martin EMMA; Kirk RB; Shi H; Dunwoodie SL, 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 of the United States of America, vol. 117, pp. 3738 - 3747,

Szot JO; Campagnolo C; Cao Y; Iyer KR; Cuny H; Drysdale T; Flores-Daboub JA; Bi W; Westerfield L; Liu P; Leung TN; Choy KW; Chapman G; Xiao R; Siu VM; Dunwoodie SL, 2020, 'Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders', American Journal of Human Genetics, vol. 106, pp. 129 - 136,

Blue G; Ip E; Sholler G; Harvey R; Giannoulatou E; Dunwoodie S; Winlaw D, 2020, '584 Genetic Signatures Associated With CHD Severity Are Specific to High-Confidence CHD Genes.', Heart, Lung and Circulation, vol. 29, pp. S300 - S300,

Monger S; Troup M; Ip E; Dunwoodie SL; Giannoulatou E, 2019, 'Spliceogen: An integrative, scalable tool for the discovery of splice-altering variants', Bioinformatics, vol. 35, pp. 4405 - 4407,

McGrath-Cadell L; Hesselson S; Iismaa SE; Mishra K; Wong CMY; Fatkin D; Dunwoodie SL; Harvey R; Holloway CJ; Muller DWM; Giannoulatou E; Graham RM, 2019, 'P5540Familial clustering of spontaneous coronary artery dissection', European Heart Journal, vol. 40,

Ip E; Chapman G; Winlaw D; Dunwoodie SL; Giannoulatou E, 2019, 'VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants', Genomics, Proteomics and Bioinformatics, vol. 17, pp. 540 - 545,

Verrall CE; Blue GM; Loughran-Fowlds A; Kasparian N; Gecz J; Walker K; Dunwoodie SL; Cordina R; Sholler G; Badawi N; Winlaw D, 2019, ''Big issues' in neurodevelopment for children and adults with congenital heart disease', Open Heart, vol. 6,

Huang T; González YR; Qu D; Huang E; Safarpour F; Wang E; Joselin A; Im DS; Callaghan SM; Boonying W; Julian L; Dunwoodie SL; Slack RS; Park DS, 2019, 'The pro-death role of Cited2 in stroke is regulated by E2F1/4 transcription factors', Journal of Biological Chemistry, vol. 294, pp. 8617 - 8629,

Alankarage D; Ip E; Szot JO; Munro J; Blue GM; Harrison K; Cuny H; Enriquez A; Troup M; Humphreys DT; Wilson M; Harvey RP; Sholler GF; Graham RM; Ho JWK; Kirk EP; Pachter N; Chapman G; Winlaw DS; Giannoulatou E; Dunwoodie SL, 2019, 'Identification of clinically actionable variants from genome sequencing of families with congenital heart disease', Genetics in Medicine, vol. 21, pp. 1111 - 1120,

Boycott KM; Hartley T; Biesecker LG; Gibbs RA; Innes AM; Riess O; Belmont J; Dunwoodie SL; Jojic N; Lassmann T; Mackay D; Temple IK; Visel A; Baynam G, 2019, 'A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers', Cell, vol. 177, pp. 32 - 37,

Moreau JLM; Kesteven S; Martin EMMA; Lau KS; Yam MX; O’reilly VC; Del Monte-Nieto G; Baldini A; Feneley MP; Moon AM; Harvey RP; Sparrow DB; Chapman G; Dunwoodie SL, 2019, 'Gene-environment interaction impacts on heart development and embryo survival', Development (Cambridge), vol. 146,

Adlam D; Olson TM; Combaret N; Kovacic JC; Iismaa SE; Al-Hussaini A; O'Byrne MM; Bouajila S; Georges A; Mishra K; Braund PS; d'Escamard V; Huang S; Margaritis M; Nelson CP; de Andrade M; Kadian-Dodov D; Welch CA; Mazurkiewicz S; Jeunemaitre X; Motreff P; Belle L; Dupouy P; Barnay P; Meneveau N; Gilard M; Rioufol G; Range G; Brunel P; Delarche N; Filippi E; Le Bivic L; Harbaoui B; Benamer H; Cayla G; Varenne O; Manzo-Silberman SP; Silvain J; Spaulding C; Caussin C; Gerbaud E; Valy Y; Koning R; Lhermusier T; Champin S; Salengro E; Fluttaz A; Zabalawi A; Cottin Y; Teiger E; Saint-Etienne C; Ducrocq G; Marliere S; Boiffard E; Aubry P; Georges JL; Bresson D; De Poli F; Karrillon G; Roule V; Bali L; Valla M; Gerbay A; Houpe D; Dubreuil O; Monnier A; Mayaud N; Manchuelle A; Commeau P; Bedossa M; Wong CMY; Giannoulatou E; Sweeting M; Muller D; Wood A; McGrath-Cadell L; Fatkin D; Dunwoodie SL; Harvey R; Holloway C; Empana JP; Jouven X; Nikpay M; Goel A; Won HH; Hall LM; Willenborg C; Kanoni S; Saleheen D; Kyriakou T; Hopewell JC; Webb TR; Zeng L; Dehghan A; Alver M; Armasu SM; Auro K; Bjonnes A; Chasman DI; Chen S, 2019, 'Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection', Journal of the American College of Cardiology, vol. 73, pp. 58 - 66,

Page DJ; Miossec MJ; Williams SG; Monaghan RM; Fotiou E; Cordell HJ; Sutcliffe L; Topf A; Bourgey M; Bourque G; Eveleigh R; Dunwoodie SL; Winlaw DS; Bhattacharya S; Breckpot J; Devriendt K; Gewillig M; Brook JD; Setchfield KJ; Bu'Lock FA; O'Sullivan J; Stuart G; Bezzina CR; Mulder BJM; Postma AV; Bentham JR; Baron M; Bhaskar SS; Black GC; Newman WG; Hentges KE; Lathrop GM; Santibanez-Koref M; Keavney BD, 2019, 'Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot', Circulation Research, vol. 124, pp. 553 - 563,

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