Select Publications

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

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,

Hansson EM; Lendahl U; Chapman G, 2004, 'Notch signaling in development and disease', Seminars in Cancer Biology, vol. 14, pp. 320 - 328,

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,

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,

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,

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,

Chapman G; Rathjen PD, 1995, 'Sequence and evolutionary conservation of the murine Gbx-2 homeobox gene', FEBS Letters, vol. 364, pp. 289 - 292,

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