Select Publications
Journal articles
, 2001, 'A radiation hybrid transcript map of the mouse genome', Nature Genetics, 29, pp. 194 - 200, http://dx.doi.org/10.1038/ng1001-194
, 2001, 'Delta3 mutational analysis in mouse defines the developmental origins of skeletal dysplasia in spondylocostal dysostosis.', DEVELOPMENTAL BIOLOGY, 235, pp. 293 - 293, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000169701100504&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2001, 'Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system', Mechanisms of Development, 100, pp. 141 - 144, http://dx.doi.org/10.1016/S0925-4773(00)00514-1
, 2000, 'Sp5, a new member of the Sp1 family, is dynamically expressed during development and genetically interacts with Brachyury', Developmental Biology, 227, pp. 358 - 372, http://dx.doi.org/10.1006/dbio.2000.9878
, 1998, 'Transcriptional activating activity of Smad4: Roles of SMAD hetero-oligomerization and enhancement by an associating transactivator', Proceedings of the National Academy of Sciences of the United States of America, 95, pp. 9785 - 9790, http://dx.doi.org/10.1073/pnas.95.17.9785
, 1998, 'Msg1 and mrg1, founding members of a gene family, show distinct patterns of gene expression during mouse embryogenesis', Mechanisms of Development, 72, pp. 27 - 40, http://dx.doi.org/10.1016/S0925-4773(98)00011-2
, 1997, 'Mouse Dll3: A novel divergent Delta gene which may complement the function of other Delta homologues during early pattern formation in the mouse embryo', Development, 124, pp. 3065 - 3076
, 1997, 'Unrestricted lineage differentiation of parthenogenetic ES cells', Development Genes and Evolution, 206, pp. 377 - 388, http://dx.doi.org/10.1007/s004270050067
, 1995, 'Isolation of novel tissue-specific genes from cDNA libraries representing the individual tissue constituents of the gastrulating mouse embryo', Development, 121, pp. 2479 - 2489
, 1994, 'Multiple regions of the human cardiac actin gene are necessary for maturation-based expression in striated muscle', Journal of Biological Chemistry, 269, pp. 12212 - 12219, http://dx.doi.org/10.1016/s0021-9258(17)32703-5
, 1991, 'Coordination of skeletal muscle gene expression occurs late in mammalian development', Developmental Biology, 146, pp. 167 - 178, http://dx.doi.org/10.1016/0012-1606(91)90457-E
Conference Papers
, 2021, 'Disease-Specific and Comorbidity-Related Polygenic Risk in Spontaneous Coronary Artery Dissection', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000752020004372&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2019, 'Whole Genome Sequencing Provides Insight Into the Genetic Composition Underlying CHD Severity', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, PA, Philadelphia, presented at Scientific Sessions of the American-Heart-Association, PA, Philadelphia, 16 November 2019 - 18 November 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000529998004425&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2019, 'IDENTIFICATION OF THE MAJOR GENETIC CONTRIBUTORS TO TETRALOGY OF FALLOT', in HEART, BMJ PUBLISHING GROUP, ENGLAND, Manchester, pp. A182 - A183, presented at Annual Conference of the British-Cardiovascular-Society (BCS) - Digital Health Revolution, ENGLAND, Manchester, 03 June 2019 - 05 June 2019, http://dx.doi.org/10.1136/heartjnl-2019-BCS.226
, 2017, 'Genetic Variants Explaining Neurodevelopmental Disorders in Patients With Congenital Heart Disease - Are We Ready for the Clinic?', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, CA, Anaheim, presented at Scientific Sessions of the American-Heart-Association / Resuscitation Science Symposium, CA, Anaheim, 11 November 2017 - 15 November 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000437035905488&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2016, 'The Application of Iodine-Enhanced Micro-CT Scanning Protocols to Analyze Multiple Tissue Types and Organ Systems in Mouse Embryos with Short-term Gestational Hypoxia', in FASEB JOURNAL, FEDERATION AMER SOC EXP BIOL, CA, San Diego, presented at Experimental Biology Meeting, CA, San Diego, 02 April 2016 - 06 April 2016
, 2016, 'The Application of Iodine-Enhanced Micro-CT Scanning Protocols to Analyze Multiple Tissue Types and Organ Systems in Mouse Embryos with Short-term Gestational Hypoxia', in FASEB JOURNAL, FEDERATION AMER SOC EXP BIOL, San Diego, CA, presented at Experimental Biology Meeting, San Diego, CA, 02 April 2016 - 06 April 2016, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000406444004137&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2016, 'The Application of Iodine-Enhanced Micro-CT Scanning Protocols to Analyze Multiple Tissue Types and Organ Systems in Mouse Embryos with Short-term Gestational Hypoxia', in FASEB JOURNAL, FEDERATION AMER SOC EXP BIOL, San Diego, CA, presented at Experimental Biology Meeting, San Diego, CA, 02 April 2016 - 06 April 2016, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000406444004645&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2016, 'The Application of Iodine-Enhanced Micro-CT Scanning Protocols to Analyze Multiple Tissue Types and Organ Systems in Mouse Embryos with Short-term Gestational Hypoxia', in FASEB JOURNAL, FEDERATION AMER SOC EXP BIOL, San Diego, CA, presented at Experimental Biology Meeting, San Diego, CA, 02 April 2016 - 06 April 2016, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000406444001286&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2011, 'Cited2 Regulates Hematopoietic Stem Cell Quiescence Through HIF-1 alpha Dependent and Independent Pathways', in BLOOD, AMER SOC HEMATOLOGY, CA, San Diego, pp. 416 - 417, presented at 53rd Annual Meeting and Exposition of the American-Society-of-Hematology (ASH)/Symposium on the Basic Science of Hemostasis and Thrombosis, CA, San Diego, 10 December 2011 - 13 December 2011
, 2011, 'Deletion of the Cited2 gene in beta cells causes impaired insulin secretion and glucose intolerance in mice', in DIABETOLOGIA, SPRINGER, PORTUGAL, Lisbon, pp. S21 - S21, presented at 47th Annual Meeting of the European-Association-for-the-Study-of-Diabetes (EASD), PORTUGAL, Lisbon, 12 September 2011 - 16 September 2011, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000307671300035&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2009, 'Cited2 transactivates Nodal expression in the left lateral plate mesoderm through interaction with FoxH1', in Mechanisms of Development, Elsevier Science BV, Amsterdam, Netherlands, pp. S188 - S188, presented at 16th International Society of Developmental Biologists Congress, Edinburgh, http://dx.doi.org/10.1016/j.mod.2009.06.453
, 2008, 'Notch pathway mutants display craniofacial birth defects and disrupt expression of the pharyngeal arch gene Barx1', in Developmental Biology, Academic Press Inc Elsevier Science, San Diego, Ca, USA, pp. 585 - 586, presented at Society for Developmental Biology 67th Annual Meeting Program, http://dx.doi.org/10.1016/j.ydbio.2008.05.421
, 2003, 'Dll3-Notch1 double mutant mice are a model for congenital scoliosis and craniofacial disorders.', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, CALIFORNIA, LOS ANGELES, pp. 172 - 172, presented at Annual Meeting of the American-Society-of-Human-Genetics, CALIFORNIA, LOS ANGELES, 04 November 2003 - 08 November 2003, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000185599700052&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2003, 'Cited1 is required for normal placental development in mouse.', in DEVELOPMENTAL BIOLOGY, ACADEMIC PRESS INC ELSEVIER SCIENCE, MASSACHUSETTS, BOSTON, pp. 558 - 558, presented at 62nd Annual Meeting of the Society-for-Development-Biology, MASSACHUSETTS, BOSTON, 30 July 2003 - 02 August 2003, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000184373300465&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2002, 'CITED2 is not a major determinant of human NTDs.', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, MARYLAND, BALTIMORE, pp. 468 - 468, presented at 52nd Annual Meeting of the American-Society-of-Human-Genetics, MARYLAND, BALTIMORE, 15 October 2002 - 19 October 2002, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000178025801743&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
Conference Abstracts
, 2021, 'Spontaneous Coronary Artery Dissection (SCAD) and a family history of aortic artery dissection, a case series', in EUROPEAN HEART JOURNAL, OXFORD UNIV PRESS, Vol. 42, pp. 2787 - 2787, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000720456903088&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2019, 'Familial clustering of spontaneous coronary artery dissection', in EUROPEAN HEART JOURNAL, OXFORD UNIV PRESS, FRANCE, Paris, Vol. 40, pp. 3414 - 3414, presented at Congress of the European-Society-of-Cardiology (ESC) / World Congress of Cardiology, FRANCE, Paris, 31 August 2019 - 04 September 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000507313003083&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2018, 'THE ROLE OF GENETIC AND ENVIRONMENTAL FACTORS IN CAUSING CONGENITAL MALFORMATION', in AMERICAN JOURNAL OF MEDICAL GENETICS PART A, WILEY, CANADA, Banff, Vol. 179, pp. 686 - 686, presented at 39th Annual David W Smith Workshop on Malformations and Morphogenesis, CANADA, Banff, 24 August 2018 - 29 August 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000462676800054&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
, 2017, 'Gestational stress causes heart defects by inducing the unfolded protein response', in MECHANISMS OF DEVELOPMENT, ELSEVIER SCIENCE BV, SINGAPORE, Natil Univ Singapore, Singapore, Vol. 145, pp. S17 - S17, presented at 18th International Congress of Developmental Biology, SINGAPORE, Natil Univ Singapore, Singapore, 18 June 2017 - 22 June 2017, http://dx.doi.org/10.1016/j.mod.2017.04.572
, 2017, 'Gestational stress induces the unfolded protein response, resulting in heart defects', in MECHANISMS OF DEVELOPMENT, ELSEVIER SCIENCE BV, SINGAPORE, Natil Univ Singapore, Singapore, Vol. 145, pp. S67 - S68, presented at 18th International Congress of Developmental Biology, SINGAPORE, Natil Univ Singapore, Singapore, 18 June 2017 - 22 June 2017, http://dx.doi.org/10.1016/j.mod.2017.04.152
Preprints
, 2025, NKX2-5 congenital heart disease mutations show diverse loss and gain of epigenomic, biochemical and chromatin search functions underpinning pathogenicity., http://dx.doi.org/10.1101/2025.06.20.659510
, 2025, Neural crest cell derived DKK1 modulates Wnt signalling in the second heart field to orchestrate cardiac outflow tract development, http://dx.doi.org/10.1101/2025.03.27.645622
, 2025, Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects, http://dx.doi.org/10.7554/eLife.97649
, 2025, Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects, http://dx.doi.org/10.7554/elife.97649.2
, 2025, Benchmarking of variant pathogenicity prediction methods using a population genetics approach, http://dx.doi.org/10.1101/2025.03.16.643565
, 2024, Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects, http://dx.doi.org/10.7554/elife.97649.1
, 2024, Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects, http://dx.doi.org/10.1101/2024.05.07.592899
, 2022, A pluripotent stem cell atlas of multilineage differentiation revealsTMEM88as a developmental regulator of mammalian blood pressure, http://dx.doi.org/10.1101/2022.10.12.511862
, 2022, Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line, http://dx.doi.org/10.1101/2022.10.31.514499
, 2018, Deleterious genetic variants inNOTCH1are a major contributor to the incidence of non-syndromic Tetralogy of Fallot, http://dx.doi.org/10.1101/300905
Other
, 2004, Edd, the murine ortholog of the hyperplastic discs (hyd) gene, isessential for yolk sac vascularization and chorioallantoic fusion (vol24, pg 7225, 2004), American Society for Microbiology, http://dx.doi.org/10.1128/MCB.24.20.9262.2004