By Professor Sally Dunwoodie

Journal articles

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 T; 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

Blue GM; Kirk EP; Giannoulatou E; Dunwoodie SL; Ho JWK; Hilton DCK; White SM; Sholler GF; Harvey RP; Winlaw DS, 2014, 'Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease', Journal of the American College of Cardiology, 64, pp. 2498 - 2506, http://dx.doi.org/10.1016/j.jacc.2014.09.048

Du J; Li Q; Tang F; Puchowitz M; Fujioka H; Dunwoodie S; Danielpour D; Yang Y-C, 2013, 'Cited2 Is Required For The Maintenance Of Glycolytic Metabolism In Adult Hematopoietic Stem Cells', Blood, 122, pp. 794 - 794, http://dx.doi.org/10.1182/blood.v122.21.794.794

Sparrow DB; Faqeih EA; Sallout B; Alswaid A; Ababneh F; Al-Sayed M; Rukban H; Eyaid WM; Kageyama R; Ellard S; Turnpenny PD; Dunwoodie SL, 2013, 'Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus', American Journal of Medical Genetics Part A, 161, pp. 2244 - 2249, http://dx.doi.org/10.1002/ajmg.a.36073

Méniel V; Song F; Phesse T; Young M; Poetz O; Parry L; Jenkins JR; Williams GT; Dunwoodie SL; Watson A; Clarke AR, 2013, 'Cited1 Deficiency Suppresses Intestinal Tumorigenesis', Plos Genetics, 9, http://dx.doi.org/10.1371/journal.pgen.1003638

Dunwoodie SL; Hamada H, 2013, 'Ways, means and consequences of shaping morphogen gradients', Current Opinion in Genetics and Development, 23, pp. 361 - 362, http://dx.doi.org/10.1016/j.gde.2013.07.005

Sparrow DB; McInerney-Leo A; Gucev ZS; Gardiner B; Marshall M; Leo PJ; Chapman DL; Tasic V; Shishko A; Brown MA; Duncan EL; Dunwoodie SL, 2013, 'Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6', Human Molecular Genetics, 22, pp. 1625 - 1631, http://dx.doi.org/10.1093/hmg/ddt012

Chapman G; Smith AJ; Mattar MZ; Major J; O''reilly VC; Saga Y; Zackai EH; Dormans JP; Alman B; Mcgregor L; Kageyama R; Kusumi K; Dunwoodie SL, 2012, 'A mechanism for gene-environment interaction in the etiology of congenital scoliosis', Cell, 149, pp. 295 - 306, http://dx.doi.org/10.1016/j.cell.2012.02.054

Li Q; Ramirez-bergeron D; Dunwoodie SL; Yang Y, 2012, 'Cited2 gene controls pluripotency and cardiomyocyte differentiation of murine embryonic stem cells through Oct4 gene', The Journal of Biological Chemistry, 287, pp. 29088 - 29100, http://dx.doi.org/10.1074/jbc.M112.378034

Dunwoodie SL; Huang T; Wang YW; Ebrahem Q; Chen Y; Cheng C; Doughman YQ; Watanabe M; Yang Y, 2012, 'Deletion of HIF-1 alpha partially rescues the abnormal hyaloid vascular system in Cited2 conditional knockout mouse eyes', Molecular Vision, 18, pp. 1260 - 1270

Du J; Chen Y; Li Q; Han X; Cheng C; Wang Z; Danielpour D; Dunwoodie SL; Bunting KD; Yang Y-C, 2012, 'HIF-1 deletion partially rescues defects of hematopoietic stem cell quiescence caused by Cited2 deficiency', Blood, 119, pp. 2789 - 2798, http://dx.doi.org/10.1182/blood-2011-10-387902

Du J; Chen Y; Li Q; Wang Z; Dunwoodie S; Bunting KD; Yang Y-C, 2011, 'Cited2 Regulates Hematopoietic Stem Cell Quiescence Through HIF-1α Dependent and Independent Pathways', Blood, 118, pp. 912 - 912, http://dx.doi.org/10.1182/blood.v118.21.912.912

Qian L; Wythe JD; Liu J; Cartry J; Vogler G; Mohapatra B; Otway RT; Huang Y; King IN; Maillet M; Zheng Y; Crawley T; Taghli-Lamallem O; Semsarian C; Dunwoodie S; Winlaw D; Harvey RP; Fatkin D; Towbin JA; Molkentin JD; Srivastava D; Ocorr K; Bruneau BG; Bodmer R, 2011, 'Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species', The Journal of Experimental Medicine, 208, pp. i20 - i20, http://dx.doi.org/10.1084/jem2087oia20

Hoyne GF; Chapman G; Sontani ; Pursglove S; Dunwoodie SL, 2011, 'A cell autonomous role for the Notch ligand Delta-like 3 in alphabeta T-cell development', Immunology and Cell Biology, 89, pp. 696 - 705, http://dx.doi.org/10.1038/icb.2010.154

Costa M; Lee S; Furtado MB; Xin L; Sparrow DB; Martinez C; Dunwoodie SL; Kurtenbach E; Mohun T; Rosenthal N; Harvey RP, 2011, 'Complex SUMO-1 regulation of cardiac transcription factor Nkx2-5', PLoS ONE, 6, pp. e24812 - e24825, http://dx.doi.org/10.1371/journal.pone.0024812

Sontani ; Chapman G; Papathanasiou P; Dunwoodie SL; Goodnow CC; Hoyne GF, 2011, 'Cooperation between somatic Ikaros and Notch1 mutations at the inception of T-ALL', Leukemia Research, 35, pp. 1512 - 1519, http://dx.doi.org/10.1016/j.leukres.2011.07.024

Floro KL; Artap S; Preis JI; Fatkin D; Chapman G; Furtado MB; Harvey RP; Hamada H; Sparrow DB; Dunwoodie SL, 2011, 'Loss of Cited2 causes congenital heart disease by perturbing left-right patterning of the body axis', Human Molecular Genetics, 20, pp. 1097 - 1110, http://dx.doi.org/10.1093/hmg/ddq554

Chapman G; Sparrow DB; Kremmer E; Dunwoodie SL, 2011, 'Notch inhibition by the ligand Delta-like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis', Human Molecular Genetics, 20, pp. 905 - 916, http://dx.doi.org/10.1093/hmg/ddq529

Dunwoodie SL; Sparrow DB; Chapman G, 2011, 'The mouse notches up another success: understanding the causes of human vertebral malformation', Mammalian Genome, 22, pp. 362 - 376, http://dx.doi.org/10.1007/s00335-011-9335-5

Harvey RP; Dunwoodie SL; Fatkin D; Qian L; Wythe JD; Liu J; Liu J; Vogler G; Mohapatra B; Otway R; Huang Y; King IN; Maillet M; Zheng Y; Crawley T; Taghli-Lamallem O; Semsarian C; Winlaw D, 2011, 'Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species', Journal of Cell Biology, 193, pp. 1181 - 1196, http://dx.doi.org/10.1083/jcb.201006114

Combes A; Spiller C; Harley V; Sinclair AH; Dunwoodie SL; Wilhelm D; Koopman P, 2010, 'Gonadal defects in Cited2-mutant mice indicate a role for SF1 in both testis and ovary differentiation', International Journal of Developmental Biology, 54, pp. 683 - 689, http://dx.doi.org/10.1387/ijdb.092920ac

Chen Y; Carlson E; Chen Z; Hamik A; Jain MK; Dunwoodie SL; Yang Y, 2009, 'Conditional deletion of Cited2 results in defective corneal epithelial morphogenesis and maintenance', Developmental Biology, 334, pp. 243 - 252, http://dx.doi.org/10.1016/j.ydbio.2009.07.028

Sewell WA; Sparrow DB; Smith A; Gonzalez D; Rappaport E; Dunwoodie SL; Kusumi K, 2009, 'Cyclical expression of the Notch/Wnt regulator Nrarp requires modulation by Dll3 in somitogenesis', Developmental Biology, 329, pp. 400 - 409, http://dx.doi.org/10.1016/j.ydbio.2009.02.023

Dunwoodie SL, 2009, 'Mutation of the fucose-specific beta 1,3 N-acetylglucosaminyltransferase LFNG results in abnormal formation of the spine', Biochimica et Biophysica ACTA - Molecular Basis of Disease, 1792, pp. 100 - 111, http://dx.doi.org/10.1016/j.bbadis.2008.11.003

Dunwoodie SL, 2009, 'Mutation of the fucose-specific β1,3 N-acetylglucosaminyltransferase UNG results in abnormal formation of the spine (Reprinted)', BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1792, pp. 862 - 873

Sparrow DB; Boyle S; Sams R; Mazuruk B; Zhang L; Moeckel G; Dunwoodie SL; de Caestecker MP, 2009, 'Placental insufficiency associated with loss of Cited1 causes renal medullary dysplasia', Journal of the American Society of Nephrology, 20, pp. 777 - 786, http://dx.doi.org/10.1681/ASN.2008050547

Giampietro P; Dunwoodie SL; Kusumi K; Pourquie O; Tassy O; Offiah AC; Cornier A; Alman B; Blank R; Raggio C; Glurich I; Turnpenny PD, 2009, 'Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans', Annals of the New York Academy of Sciences, 1151, pp. 38 - 67, http://dx.doi.org/10.1111/j.1749-6632.2008.03452.x

Dunwoodie SL, 2009, 'The Role of Hypoxia in Development of the Mammalian Embryo', Developmental Cell, 17, pp. 755 - 773, http://dx.doi.org/10.1016/j.devcel.2009.11.008

Dunwoodie SL, 2009, 'The role of Notch in patterning the human vertebral column', Current Opinion in Genetics and Development, 19, pp. 329 - 337, http://dx.doi.org/10.1016/j.gde.2009.06.005

Giampietro PF; Dunwoodie SL; Kusumi K; Pourquié O; Tassy O; Offiah AC; Cornier AS; Alman BA; Blank RD; Raggio CL; Glurich I; Turnpenny PD, 2008, 'Molecular diagnosis of vertebral segmentation disorders in humans', Expert Opinion on Medical Diagnostics, 2, pp. 1107 - 1121, http://dx.doi.org/10.1517/17530059.2.10.1107

Loomes KM; Stevens SA; O'Brien ML; Gonzalez DM; Ryan MJ; Segalov M; Dormans NJ; Mimoto MS; Gibson JD; Sewell W; Schaffer AA; Nah HD; Rappaport EF; Pratt SC; Dunwoodie SL; Kusumi K, 2008, 'Dll3 and Notchl genetic interactions model axial segmental and craniofacial malformations of human birth defects (Developmental Dynamics 236, (2943-2951))', Developmental Dynamics, 237, pp. 1754, http://dx.doi.org/10.1002/dvdy.21580

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