By Professor Sally Dunwoodie

Journal articles

Bax M; Junday K; Iismaa S; Hesselson S; Tarr I; McGrath-Cadell L; Dunwoodie S; Giannoulatou E; Graham R, 2022, 'Induced Pluripotent Stem Cell-Derived Models of Spontaneous Coronary Artery Dissection', Heart, Lung and Circulation, 31, pp. S87 - S87, http://dx.doi.org/10.1016/j.hlc.2022.06.097

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

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, 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, 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, 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, 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, 147, http://dx.doi.org/10.1242/dev.194233

Boylan M; Anderson MJ; Ornitz DM; Lewandoski M, 2020, 'The Fgf8 subfamily (Fgf8, Fgf17 and Fgf18) is required for closure of the embryonic ventral body wall.', Development, 147, http://dx.doi.org/10.1242/dev.189506

Bagnat M; Gray RS, 2020, 'Development of a straight vertebrate body axis.', Development, 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, 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, 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, 182, pp. 1664 - 1672, http://dx.doi.org/10.1002/ajmg.a.61607

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, 8, http://dx.doi.org/10.3389/fped.2020.00310

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, 147, http://dx.doi.org/10.1242/dev.188052

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, 147, http://dx.doi.org/10.1242/dev.187369

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, 29, pp. 566 - 579, http://dx.doi.org/10.1093/hmg/ddz270

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, 117, pp. 3738 - 3747, http://dx.doi.org/10.1073/pnas.1916588117

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, 106, pp. 129 - 136, http://dx.doi.org/10.1016/j.ajhg.2019.12.006

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, 29, pp. S300 - S300, http://dx.doi.org/10.1016/j.hlc.2020.09.591

Monger S; Troup M; Ip E; Dunwoodie SL; Giannoulatou E, 2019, 'Spliceogen: An integrative, scalable tool for the discovery of splice-altering variants', Bioinformatics, 35, pp. 4405 - 4407, http://dx.doi.org/10.1093/bioinformatics/btz263

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, 40, http://dx.doi.org/10.1093/eurheartj/ehz746.0486

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, 17, pp. 540 - 545, http://dx.doi.org/10.1016/j.gpb.2019.11.001

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, 6, pp. e000998, http://dx.doi.org/10.1136/openhrt-2018-000998

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, 294, pp. 8617 - 8629, http://dx.doi.org/10.1074/jbc.RA119.007941

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, 21, pp. 1111 - 1120, http://dx.doi.org/10.1038/s41436-018-0296-x

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, 177, pp. 32 - 37, http://dx.doi.org/10.1016/j.cell.2019.02.040

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, 146, http://dx.doi.org/10.1242/dev.172957

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; 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; Olin JW; Gulati RMD; Tweet MS; Hayes SN; Samani NJ; Graham RM; Motreff P; Bouatia-Naji N; Nikpay M; Goel A; Won HH; Hall LM; Willenborg C; Kanoni S; Saleheen D; Kyriakou T; Nelson CP; Hopewell JC; Webb TR; Zeng L; Dehghan A; Alver M; Armasu SM; Auro K; Bjonnes A; Chasman DI; Chen S; Ford I; Franceschini N; Gieger C; Grace C; Gustafsson S; Huang J; Hwang SJ; Kim YK; Kleber ME; Lau KW; Lu X; Lu Y; Lyytikäinen LP; Mihailov E; Morrison A; Pervjakova N; Qu L; Rose LM; Salfati E; Saxena R; Scholz M; Smith AV; Tikkanen E; Uitterlinden A; Yang X; Zhang W; Zhao W; de Andrade M; de Vries PS; van Zuydam NR; Anand SS; Bertram L; Beutner F; Dedoussis G; Frossard P; Gauguier D; Goodall AH; Gottesman O; Haber M; Han BG; Huang J, 2019, 'Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection', Journal of the American College of Cardiology, 73, pp. 58 - 66, http://dx.doi.org/10.1016/j.jacc.2018.09.085

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, 124, pp. 553 - 563, http://dx.doi.org/10.1161/CIRCRESAHA.118.313250

McGrath-Cadell L; Hesselson S; Iismaa S; Mishra K; Wong C; Fatkin D; Dunwoodie S; Harvey R; Holloway C; Muller D; Giannoulatou E; Graham R, 2019, 'Familial Clustering of Spontaneous Coronary Artery Dissection', Heart, Lung and Circulation, 28, pp. S330 - S330, http://dx.doi.org/10.1016/j.hlc.2019.06.454

Blue GM; Ip E; Walker K; Kirk EP; Loughran-Fowlds A; Sholler GF; Dunwoodie SL; Harvey RP; Giannoulatou E; Badawi N; Winlaw DS, 2018, 'Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease', American Heart Journal, 201, pp. 33 - 39, http://dx.doi.org/10.1016/j.ahj.2018.03.021

Szot JO; Cuny H; Blue GM; Humphreys DT; Ip E; Harrison K; Sholler GF; Giannoulatou E; Leo P; Duncan EL; Sparrow DB; Ho JWK; Graham RM; Pachter N; Chapman G; Winlaw DS; Dunwoodie SL, 2018, 'A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data', Circulation Genomic and Precision Medicine, 11, pp. e001978, http://dx.doi.org/10.1161/CIRCGEN.117.001978

Giampietro PF; Pourquie O; Raggio C; Ikegawa S; Turnpenny PD; Gray R; Dunwoodie SL; Gurnett CA; Alman B; Cheung K; Kusumi K; Hadley-Miller N; Wise CA, 2018, 'Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16–18, 2017, Dallas, Texas', American Journal of Medical Genetics Part A, 176, pp. 253 - 256, http://dx.doi.org/10.1002/ajmg.a.38550

Slavotinek A; Risolino M; Losa M; Cho MT; Monaghan KG; Schneidman-Duhovny D; Parisotto S; Herkert JC; Stegmann APA; Miller K; Shur N; Chui J; Muller E; DeBrosse S; Szot JO; Chapman G; Pachter NS; Winlaw DS; Mendelsohn BA; Dalton J; Sarafoglou K; Karachunski PI; Lewis JM; Pedro H; Dunwoodie SL; Selleri L; Shieh J, 2017, 'De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects', Human Molecular Genetics, 26, pp. 4849 - 4860, http://dx.doi.org/10.1093/hmg/ddx363

Winlaw DS; Dunwoodie SL; Kirk EP, 2017, 'Four-Generation Family with Ebstein Anomaly Highlights Future Challenges in Congenital Heart Disease Genetics', Circulation Cardiovascular Genetics, 10, http://dx.doi.org/10.1161/CIRCGENETICS.117.001967

Shi H; Enriquez A; Rapadas M; Martin EMMA; Wang R; Moreau J; Lim CK; Szot JO; Ip E; Hughes JN; Sugimoto K; Humphreys DT; McInerney-Leo AM; Leo PJ; Maghzal GJ; Halliday J; Smith J; Colley A; Mark PR; Collins F; Sillence DO; Winlaw DS; Ho JWK; Guillemin GJ; Brown MA; Kikuchi K; Thomas PQ; Stocker R; Giannoulatou E; Chapman G; Duncan EL; Sparrow DB; Dunwoodie SL, 2017, 'NAD deficiency, congenital malformations, and niacin supplementation', New England Journal of Medicine, 377, pp. 544 - 552, http://dx.doi.org/10.1056/NEJMoa1616361

Munro JE; Dunwoodie SL; Giannoulatou E, 2017, 'SVPV: A structural variant prediction viewer for paired-end sequencing datasets', Bioinformatics, 33, pp. 2032 - 2033, http://dx.doi.org/10.1093/bioinformatics/btx117

Blue GM; Humphreys D; Szot J; Major J; Chapman G; Bosman A; Kirk EP; Sholler GF; Harvey RP; Dunwoodie SL; Winlaw DS, 2017, 'The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease', International Journal of Cardiology, 230, pp. 155 - 163, http://dx.doi.org/10.1016/j.ijcard.2016.12.024

Blue GM; Kirk EP; Giannoulatou E; Sholler GF; Dunwoodie SL; Harvey RP; Winlaw DS, 2017, 'Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide', Journal of the American College of Cardiology, 69, pp. 859 - 870, http://dx.doi.org/10.1016/j.jacc.2016.11.060

Wang X; Lockhart SM; Rathjen T; Albadawi H; Sørensen D; O'neill BT; Dwivedi N; Preil SR; Beck HC; Dunwoodie SL; Watkins MT; Rasmussen LM; Christian RM, 2016, 'Insulin downregulates the transcriptional coregulator cited2, an inhibitor of proangiogenic function in endothelial cells', Diabetes, 65, pp. 3680 - 3690, http://dx.doi.org/10.2337/db16-0001

Shi H; O’Reilly VC; Moreau JLM; Bewes TR; Yam MX; Chapman BE; Grieve SM; Stocker R; Graham RM; Chapman G; Sparrow DB; Dunwoodie SL, 2016, 'Gestational stress induces the unfolded protein response, resulting in heart defects', Development Cambridge, 143, pp. 2561 - 2572, http://dx.doi.org/10.1242/dev.136820

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