Select Publications

Book Chapters

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

Chapman G; Dunwoodie SL, 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

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, vol. 42, pp. 862 - 876, http://dx.doi.org/10.1002/humu.24211

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, vol. 29, pp. 1068 - 1082, http://dx.doi.org/10.1093/HMG/DDZ231

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, vol. 29, pp. 3662 - 3678, http://dx.doi.org/10.1093/hmg/ddaa258

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, vol. 182, pp. 1664 - 1672, http://dx.doi.org/10.1002/ajmg.a.61607

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

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

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

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

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

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, vol. 11, pp. e001978, http://dx.doi.org/10.1161/CIRCGEN.117.001978

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, vol. 26, pp. 4849 - 4860, http://dx.doi.org/10.1093/hmg/ddx363

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, vol. 377, pp. 544 - 552, http://dx.doi.org/10.1056/NEJMoa1616361

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, vol. 230, pp. 155 - 163, http://dx.doi.org/10.1016/j.ijcard.2016.12.024

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), vol. 143, pp. 2561 - 2572, http://dx.doi.org/10.1242/dev.136820

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, vol. 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, vol. 4, http://dx.doi.org/10.7554/eLife.06942

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, vol. 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, vol. 391, pp. 99 - 110, http://dx.doi.org/10.1016/j.ydbio.2014.03.005

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, vol. 23, pp. 602 - 617, http://dx.doi.org/10.1093/hmg/ddt448

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, vol. 1843, pp. 1272 - 1284, http://dx.doi.org/10.1016/j.bbamcr.2014.03.015

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, vol. 89, pp. 696 - 705, http://dx.doi.org/10.1038/icb.2010.154

Geffers I; Serth K; Chapman G; Jaekel R; Schuster-Gossler K; Cordes R; Sparrow DB; Kremmer E; Dunwoodie SL; Klein T; Gossler A, 2007, 'Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo', The Journal of Experimental Medicine, vol. 204, pp. i20 - i20, http://dx.doi.org/10.1084/jem2048oia20

Dunwoodie SL; Sparrow DB; Chapman G, 2007, 'The Yin and Yang of Notch signalling; trans-activation and cis-inhibition fine-tune Notch signalling', Developmental Biology, vol. 306, pp. 335 - 335, http://dx.doi.org/10.1016/j.ydbio.2007.03.170

Sparrow DB; Chapman G; Turnpenny PD; Dunwoodie SL, 2007, 'Disruption of the somitic molecular clock causes abnormal vertebral segmentation', Birth Defects Research Part C: Embryo Today: Reviews, vol. 81 (2), pp. 93 - 110, http://dx.doi.org/10.1002/bdrc.20093

Geffers I; Serth K; Chapman G; Jaekel R; Schuster-Gossler K; Cordes R; Sparrow DB; Kremmer E; Dunwoodie SL; Klein T; Gossler A, 2007, 'Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo', Journal of Cell Biology, vol. 178, pp. 465 - 476, http://dx.doi.org/10.1083/jcb.200702009

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, vol. 175, pp. 535 - 540, http://dx.doi.org/10.1083/jcb.200602009

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, vol. 28, pp. 118 - 127, http://dx.doi.org/10.1159/000090758

Sparrow DB; Chapman G; Wouters MA; Whittock N; Ellard S; Fatkin D; Turnpenny PD; Kusumi K; Sillence D; Dunwoodie SL, 2006, 'Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype', American Journal of Human Genetics, vol. 78, pp. 25 - 34, http://dx.doi.org/10.1086/498879

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, vol. 122, pp. S152 - S153, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000207524100576&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Hansson EM; Lendahl U; Chapman G, 2004, 'Notch signaling in development and disease', Seminars in Cancer Biology, vol. 14, pp. 320 - 328, http://dx.doi.org/10.1016/j.semcancer.2004.04.011

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, vol. 130, pp. 6089 - 6099, http://dx.doi.org/10.1242/dev.00834

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, vol. 99, pp. 17119 - 17124, http://dx.doi.org/10.1073/pnas.252624099

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, vol. 276, pp. 3324 - 3332, http://dx.doi.org/10.1074/jbc.M008167200

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, vol. 112, pp. 601 - 612

Chapman G; Remiszewski JL; Webb GC; Schulz TC; Bottema CDK; Rathjen PD, 1997, 'The mouse homeobox gene, Gbx2: Genomic organization and expression in pluripotent cells in vitro and in vivo', Genomics, vol. 46, pp. 223 - 233, http://dx.doi.org/10.1006/geno.1997.4969

Chapman G; Rathjen PD, 1995, 'Sequence and evolutionary conservation of the murine Gbx-2 homeobox gene', FEBS Letters, vol. 364, pp. 289 - 292, http://dx.doi.org/10.1016/0014-5793(95)00410-B

Conference Papers

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

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:000406444000351&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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

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 Abstracts

Moreau JLM; 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, Natil Univ Singapore, Singapore, SINGAPORE, Vol. 145, pp. S67 - S68, presented at 18th International Congress of Developmental Biology, Natil Univ Singapore, Singapore, SINGAPORE, 18 June 2017 - 22 June 2017, http://dx.doi.org/10.1016/j.mod.2017.04.152


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