By Professor Sally Dunwoodie

Journal articles

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

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; 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, 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

Fame RM; MacDonald JL; Dunwoodie SL; Takahashi E; Macklis JD, 2016, 'Cited2 regulates neocortical layer II/III generation and somatosensory callosal projection neuron development and connectivity', Journal of Neuroscience, 36, pp. 6403 - 6419, http://dx.doi.org/10.1523/JNEUROSCI.4067-15.2016

Chapman G; Major JA; Iyer K; James AC; Pursglove SE; Moreau JLM; Dunwoodie SL, 2016, 'Notch1 endocytosis is induced by ligand and is required for signal transduction', Biochimica et Biophysica Acta - Molecular Cell Research, 1863, pp. 166 - 177, http://dx.doi.org/10.1016/j.bbamcr.2015.10.021

Bouveret R; Waardenberg AJ; Schonrock N; Ramialison M; Doan T; de jong D; Bondue A; Kaur G; Mohamed S; Fonoudi H; Chen CM; Wouters MA; Bhattacharya S; Plachta N; Dunwoodie SL; Chapman G; Blanpain C; Harvey RP, 2015, 'NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets', eLife, 4, pp. e06942, http://dx.doi.org/10.7554/eLife.06942

Yoo JY; Kim TH; Lee JH; Dunwoodie SL; Ku BJ; Jeong JW, 2015, 'Mig-6 regulates endometrial genes involved in cell cycle and progesterone signaling', Biochemical and Biophysical Research Communications, 462, pp. 409 - 414, http://dx.doi.org/10.1016/j.bbrc.2015.04.146

Wilkinson LJ; Neal CS; Singh RR; Sparrow DB; Kurniawan ND; Ju A; Grieve SM; Dunwoodie SL; Moritz KM; Little MH, 2015, 'Renal developmental defects resulting from in utero hypoxia are associated with suppression of ureteric β-catenin signaling', Kidney International, 87, pp. 975 - 983, http://dx.doi.org/10.1038/ki.2014.394

Wu N; Ming X; Xiao J; Wu Z; Chen X; Shinawi M; Shen Y; Yu G; Liu J; Xie H; Gucev ZS; Liu S; Yang N; Al-Kateb H; Chen J; Zhang J; Hauser N; Zhang T; Tasic V; Liu P; Su X; Pan X; Liu C; Wang L; Shen J; Shen J; Chen Y; Zhang J; Choy KW; Wang J; Wang Q; Li S; Zhou W; Guo J; Wang Y; Zhang C; Zhao H; An Y; Zhao Y; Wang J; Liu Z; Zuo Y; Tian Y; Weng X; Sutton VR; Wang H; Ming Y; Kulkarni S; Zhong TP; Giampietro PF; Dunwoodie SL; Cheung SW; Zhang X; Jin L; Lupski JR; Qiu G; Zhang F, 2015, 'TBX6 null variants and a common hypomorphic allele in congenital scoliosis', New England Journal of Medicine, 372, pp. 341 - 350, http://dx.doi.org/10.1056/NEJMoa1406829

McInerney-Leo AM; Sparrow DB; Harris JE; Gardiner BB; Marshall MS; O'Reilly VC; Shi H; Brown MA; Leo PJ; Zankl A; Dunwoodie SL; Duncan EL, 2015, 'Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects', Human Molecular Genetics, 24, pp. 1234 - 1242, http://dx.doi.org/10.1093/hmg/ddu534

Moreau JLM; Artap ST; Shi H; Chapman G; Leone G; Sparrow DB; Dunwoodie SL, 2014, 'Cited2 is required in trophoblasts for correct placental capillary patterning', Developmental Biology, 392, pp. 62 - 79, http://dx.doi.org/10.1016/j.ydbio.2014.04.023

O'Reilly VC; Lopes Floro K; Shi H; Chapman BE; Preis JI; James AC; Chapman G; Harvey RP; Johnson RS; Grieve SM; Sparrow DB; Dunwoodie SL, 2014, 'Gene-environment interaction demonstrates the vulnerability of the embryonic heart', Developmental Biology, 391, pp. 99 - 110, http://dx.doi.org/10.1016/j.ydbio.2014.03.005

Du J; Li Q; Tang F; Puchowitz MA; Fujioka H; Dunwoodie SL; Danielpour D; Yang YC, 2014, 'Cited2 is required for the maintenance of glycolytic metabolism in adult hematopoietic stem cells', Stem Cells and Development, 23, pp. 83 - 94, http://dx.doi.org/10.1089/scd.2013.0370

Li Q; Hakimi P; Liu X; Yu WM; Ye F; Fujioka H; Raza S; Shankar E; Tang F; Dunwoodie SL; Danielpour D; Hoppel CL; Ramírez-Bergeron DL; Qu CK; Hanson RW; Yang YC, 2014, 'Cited2, a transcriptional modulator protein, regulates metabolism in murine embryonic stem cells', Journal of Biological Chemistry, 289, pp. 251 - 263, http://dx.doi.org/10.1074/jbc.M113.497594

James AC; Szot JO; Iyer K; Major JA; Pursglove SE; Chapman G; Dunwoodie SL, 2014, 'Notch4 reveals a novel mechanism regulating Notch signal transduction', Biochimica et Biophysica Acta - Molecular Cell Research, 1843, pp. 1272 - 1284, http://dx.doi.org/10.1016/j.bbamcr.2014.03.015

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