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Dr Gavin Chapman

Dr Gavin Chapman

Conjoint Senior Lecturer
Medicine & Health
School of Clinical Medicine
Phone
+61-2-9295 8630
E-mail
g.chapman@unsw.edu.au
Location
Level 7, Victor Chang Cardiac Research Institute, Lowy Packer Building, 405 Liverpool St, Darlinghurst NSW 2010
  • Book Chapters | 2010
    Chapman G; Dunwoodie SL, 2010, 'Role of Delta-like-3 in mammalian somitogenesis and vertebral column formation', in Advances in Experimental Medicine and Biology, edn. Original, Springer New York LLC, United States, pp. 95 - 112, http://www.springer.com/series/5584
    Book Chapters | 2008
    2008, 'Role of Delta-like-3 in mammalian somitogenesis and vertebral column formation', in Advances in Experimental Medicine and Biology, Springer New York LLC, United States, pp. 95 - 112, http://dx.doi.org/10.1007/978-0-387-09606-3_5
  • Journal articles | 2023
    2023, 'Examination of validity of identifying congenital heart disease from hospital discharge data without a gold standard: Using a data linkage approach', Paediatric and Perinatal Epidemiology, http://dx.doi.org/10.1111/ppe.12976
    Journal articles | 2022
    2022, 'An image analysis protocol using CellProfiler for automated quantification of post-ischemic cardiac parameters', STAR Protocols, 3, http://dx.doi.org/10.1016/j.xpro.2021.101097
    Journal articles | 2022
    2022, 'Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors', Differentiation, 128, pp. 1 - 12, http://dx.doi.org/10.1016/j.diff.2022.09.002
    Journal articles | 2022
    2022, 'Quantitative 3D analysis and visualization of cardiac fibrosis by microcomputed tomography', STAR Protocols, 3, http://dx.doi.org/10.1016/j.xpro.2021.101055
    Journal articles | 2021
    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
    Journal articles | 2021
    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
    Journal articles | 2020
    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
    Journal articles | 2020
    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
    Journal articles | 2020
    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
    Journal articles | 2020
    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
    Journal articles | 2019
    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 JW K; 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
    Journal articles | 2019
    2019, 'Gene-environment interaction impacts on heart development and embryo survival', Development (Cambridge), 146, http://dx.doi.org/10.1242/dev.172957
    Journal articles | 2019
    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
    Journal articles | 2018
    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
    Journal articles | 2017
    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
    Journal articles | 2017
    Shi H; Enriquez A; Rapadas M; Martin EM M A; 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 JW K; 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
    Journal articles | 2017
    Slavotinek A; Risolino M; Losa M; Cho MT; Monaghan KG; Schneidman-Duhovny D; Parisotto S; Herkert JC; Stegmann AP A; 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
    Journal articles | 2016
    Shi H; O’Reilly VC; Moreau JL M; 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
    Journal articles | 2016
    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
    Journal articles | 2015
    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, http://dx.doi.org/10.7554/eLife.06942
    Journal articles | 2014
    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
    Journal articles | 2014
    Moreau JL M; 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
    Journal articles | 2014
    Newman M; Wilson L; Verdile G; Lim A; Khan I; Moussavi Nik SH; Pursglove S; Chapman G; Martins RN; Lardelli M, 2014, 'Differential, dominant activation and inhibition of notch signalling and APP cleavage by truncations of PSEN1 in human disease deficits', Human Molecular Genetics, 23, pp. 602 - 617, http://dx.doi.org/10.1093/hmg/ddt448
    Journal articles | 2014
    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
    Journal articles | 2011
    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
    Journal articles | 2007
    2007, 'Disruption of the somitic molecular clock causes abnormal vertebral segmentation', Birth Defects Research Part C: Embryo Today: Reviews, 81 (2), pp. 93 - 110, http://dx.doi.org/10.1002/bdrc.20093
    Journal articles | 2007
    2007, 'Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo', Journal of Cell Biology, 178, pp. 465 - 476, http://dx.doi.org/10.1083/jcb.200702009
    Journal articles | 2007
    2007, 'Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo', The Journal of Experimental Medicine, 204, pp. i20 - i20, http://dx.doi.org/10.1084/jem2048oia20
    Journal articles | 2007
    2007, 'The Yin and Yang of Notch signalling; trans-activation and cis-inhibition fine-tune Notch signalling', Developmental Biology, 306, pp. 335 - 335, http://dx.doi.org/10.1016/j.ydbio.2007.03.170
    Journal articles | 2006
    Chapman G; Liu L; Sahlgren C; Dahlqvist C; Lendahl U, 2006, 'High levels of Notch signaling down-regulate Numb and Numblike', Journal of Cell Biology, 175, pp. 535 - 540, http://dx.doi.org/10.1083/jcb.200602009
    Journal articles | 2006
    Hansson EM; Teixeira AI; Gustafsson MV; Dohda T; Chapman G; Meletis K; Muhr J; Lendahl U, 2006, 'Recording notch signaling in real time', Developmental Neuroscience, 28, pp. 118 - 127, http://dx.doi.org/10.1159/000090758
    Journal articles | 2006
    2006, 'Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype', American Journal of Human Genetics, 78, pp. 25 - 34, http://dx.doi.org/10.1086/498879
    Journal articles | 2005
    Sparrow DB; Chapman G; Whittock N; Sillence D; Ellard S; Turnpenny PD; Dunwoodie SL, 2005, 'Mutation of the LUNATIC FRINGE gene causes spondylocostal dysostosis in humans', MECHANISMS OF DEVELOPMENT, 122, pp. S152 - S153, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000207524100576&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Journal articles | 2004
    Hansson EM; Lendahl U; Chapman G, 2004, 'Notch signaling in development and disease', Seminars in Cancer Biology, 14, pp. 320 - 328, http://dx.doi.org/10.1016/j.semcancer.2004.04.011
    Journal articles | 2003
    Dahlqvist C; Blokzijl A; Chapman G; Falk A; Dannaeus K; Ibâñez CF; Lendahl U, 2003, 'Functional Notch signaling is required for BMP4-induced inhibition of myogenic differentiation', Development, 130, pp. 6089 - 6099, http://dx.doi.org/10.1242/dev.00834
    Journal articles | 2002
    Karlström H; Beatus P; Dannaeus K; Chapman G; Lendahl U; Lundkvist J, 2002, 'A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling', Proceedings of the National Academy of Sciences of the United States of America, 99, pp. 17119 - 17124, http://dx.doi.org/10.1073/pnas.252624099
    Journal articles | 2001
    Rodda S; Sharma S; Scherer M; Chapman G; Rathjen P, 2001, 'CRTR-1, a Developmentally Regulated Transcriptional Repressor Related to the CP2 Family of Transcription Factors', Journal of Biological Chemistry, 276, pp. 3324 - 3332, http://dx.doi.org/10.1074/jbc.M008167200
    Journal articles | 1999
    Rathjen J; Lake JA; Bettess MD; Washington JM; Chapman G; Rathjen PD, 1999, 'Formation of a primitive ectoderm like cell population, EPL cells, from ES cells in response to biologically derived factors', Journal of Cell Science, 112, pp. 601 - 612
    Journal articles | 1997
    Chapman G; Remiszewski JL; Webb GC; Schulz TC; Bottema CD K; Rathjen PD, 1997, 'The mouse homeobox gene, Gbx2: Genomic organization and expression in pluripotent cells in vitro and in vivo', Genomics, 46, pp. 223 - 233, http://dx.doi.org/10.1006/geno.1997.4969
    Journal articles | 1995
    Chapman G; Rathjen PD, 1995, 'Sequence and evolutionary conservation of the murine Gbx-2 homeobox gene', FEBS Letters, 364, pp. 289 - 292, http://dx.doi.org/10.1016/0014-5793(95)00410-B
  • Conference Abstracts | 2017
    Moreau JL M; Shi H; O'Reilly VC; Bewes TR; Yam MX; Chapman BE; Grieve SM; Stocker R; Graham RM; Chapman G; Sparrow DB; Dunwoodie SL, 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
    Conference Papers | 2016
    Fisher RE; Chapman G; Dunwoodie SL; Kusumi K, 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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000406444000351&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2016
    Fisher RE; Chapman G; Dunwoodie SL; Kusumi K, 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
    Conference Papers | 2016
    Fisher RE; Chapman G; Dunwoodie SL; Kusumi K, 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
    Conference Papers | 2016
    Fisher RE; Chapman G; Dunwoodie SL; Kusumi K, 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

I apply human genomics to identify genes, that when mutated cause birth defects such as congenital heart disease. I use cell culture, mouse and yeast genetics to confirm that these mutated genes exhibit altered function. I use a range of microscopy techniques to identify birth defects in mouse models of human congenital disease.