Items where Author is "Chapman, Gavin"

Szot, Justin O. and Cuny, Hartmut and Martin, Ella M.M.A. and Sheng, Delicia Z. and Iyer, Kavitha and Portelli, Stephanie and Nguyen, Vivien and Gereis, Jessica M. and Alankarage, Dimuthu and Chitayat, David and Chong, Karen and Wentzensen, Ingrid M. and Vincent-Delormé, Catherine and Lermine, Alban and Burkitt-Wright, Emma and Ji, Weizhen and Jeffries, Lauren and Pais, Lynn S. and Tan, Tiong Y. and Pitt, James and Wise, Cheryl A. and Wright, Helen and Andrews, Israel D. and Pruniski, Brianna and Grebe, Theresa A. and Corsten-Janssen, Nicole and Bouman, Katelijne and Poulton, Cathryn and Prakash, Supraja and Keren, Boris and Brown, Natasha J. and Hunter, Matthew F. and Heath, Oliver and Lakhani, Saquib A. and McDermott, John H. and Ascher, David B. and Chapman, Gavin and Bozon, Kayleigh and Dunwoodie, Sally L. (2024) A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. Journal of Clinical Investigation, 134 (4). ISSN 1558-8238

Alankarage, Dimuthu and Enriquez, Annabelle and Steiner, Robert D. and Raggio, Cathy and Higgins, Megan and Milnes, Di and Humphreys, David T. and Duncan, Emma L. and Sparrow, Duncan B. and Giampietro, Philip F. and Chapman, Gavin and Dunwoodie, Sally L. (2022) Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors. Differentiation, 128. pp.1-12. ISSN 03014681

Janbandhu, Vaibhao and Martin, Ella M.M.A. and Chapman, Gavin and Dunwoodie, Sally L. and Harvey, Richard P. (2022) Quantitative 3D analysis and visualization of cardiac fibrosis by microcomputed tomography. STAR Protocols, 3 (1). p. 101055. ISSN 26661667

Ward, Alexander O. and Janbandhu, Vaibhao and Chapman, Gavin and Dunwoodie, Sally L. and Harvey, Richard P. (2022) An image analysis protocol using CellProfiler for automated quantification of post-ischemic cardiac parameters. STAR Protocols, 3 (1). p. 101097. ISSN 26661667

Szot, Justin O. and Slavotinek, Anne and Chong, Karen and Brandau, Oliver and Nezarati, Marjan and Cueto‐González, Anna M. and Patel, Millan S. and Devine, Walter P. and Rego, Shannon and Acyinena, Alicia P. and Shannon, Patrick and Myles‐Reid, Diane and Blaser, Susan and Mieghem, Tim V. and Yavuz‐Kienle, Halenur and Skladny, Heyko and Miller, Kristen and Riera, Miereia D. T. and Martínez, Silvia A. and Tizzano, Eduardo F. and Dupuis, Lucie and James Stavropoulos, Dimitri and McNiven, Vanda and Mendoza‐Londono, Roberto and Elliott, Alison M. and Phillips, Robert S. and Chapman, Gavin and Dunwoodie, Sally L. (2021) New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Human Mutation, 42 (7). pp.862-876. ISSN 1059-7794

Chapman, Gavin and Moreau, Julie L M and Ip, Eddie and Szot, Justin O and Iyer, Kavitha R and Shi, Hongjun and Yam, Michelle X and O’Reilly, Victoria C and Enriquez, Annabelle and Greasby, Joelene A and Alankarage, Dimuthu and Martin, Ella M M A and Hanna, Bernadette C and Edwards, Matthew and Monger, Steven and Blue, Gillian M and Winlaw, David and Ritchie, Helen E and Grieve, Stuart M and Giannoulatou, Eleni and Sparrow, Duncan B and Dunwoodie, Sally L (2020) Functional genomics and gene-environment interaction highlight the complexity of Congenital Heart Disease caused by Notch pathway variants. Human Molecular Genetics. ISSN 0964-6906

Szot, Justin O. and Campagnolo, Carla and Cao, Ye and Iyer, Kavitha R. and Cuny, Hartmut and Drysdale, Thomas and Flores-Daboub, Josue A. and Bi, Weimin and Westerfield, Lauren and Liu, Pengfei and Leung, Tse Ngong and Choy, Kwong Wai and Chapman, Gavin and Xiao, Rui and Siu, Victoria M. and Dunwoodie, Sally L. (2020) Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. The American Journal of Human Genetics, 106 (1). pp.129-136. ISSN 00029297

Alankarage, Dimuthu and Szot, Justin O and Pachter, Nick and Slavotinek, Anne and Selleri, Licia and Shieh, Joseph T and Winlaw, David and Giannoulatou, Eleni and Chapman, Gavin and Dunwoodie, Sally L (2020) Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. Human Molecular Genetics. ISSN 0964-6906

Martin, Ella M M A and Enriquez, Annabelle and Sparrow, Duncan B and Humphreys, David T and McInerney-Leo, Aideen M and Leo, Paul J and Duncan, Emma L and Iyer, Kavitha R and Greasby, Joelene A and Ip, Eddie and Giannoulatou, Eleni and Sheng, Delicia and Wohler, Elizabeth and Dimartino, Clémantine and Amiel, Jeanne and Capri, Yline and Lehalle, Daphné and Mory, Adi and Wilnai, Yael and Lebenthal, Yael and Gharavi, Ali G and Krzemień, Grażyna G and Miklaszewska, Monika and Steiner, Robert D and Raggio, Cathy and Blank, Robert and Baris Feldman, Hagit and Milo Rasouly, Hila and Sobreira, Nara L M and Jobling, Rebekah and Gordon, Christopher T and Giampietro, Philip F and Dunwoodie, Sally L and Chapman, Gavin (2020) Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Human Molecular Genetics, 29 (22). pp.3662-3678. ISSN 0964-6906

Al Dhaheri, Noura and Wu, Nan and Zhao, Sen and Wu, Zhihong and Blank, Robert D. and Zhang, Jianguo and Raggio, Cathy and Halanski, Matthew and Shen, Jianxiong and Noonan, Ken and Qiu, Guixing and Nemeth, Blaise and Sund, Sarah and Dunwoodie, Sally L. and Chapman, Gavin and Glurich, Ingrid and Steiner, Robert D. and Wohler, Elizabeth and Martin, Renan and Sobreira, Nara Lygia and Giampietro, Philip F. (2020) KIAA1217 : A novel candidate gene associated with isolated and syndromic vertebral malformations. American Journal of Medical Genetics Part A. ISSN 1552-4825

Moreau, Julie L. M and Kesteven, Scott and Martin, Ella M M A and Lau, Kin S and Yam, Michelle X and O'Reilly, Victoria C and del Monte-Nieto, Gonzalo and Baldini, Antonio and Feneley, Michael P and Moon, Anne M and Harvey, Richard P and Sparrow, Duncan B and Chapman, Gavin and Dunwoodie, Sally L (2019) Gene-environment interaction impacts on heart development and embryo survival. Development, 146 (4). pp. dev172957. ISSN 0950-1991 (Not OA)

Ip, Eddie and Chapman, Gavin and Winlaw, David and Dunwoodie, Sally L. and Giannoulatou, Eleni (2019) VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants. Genomics, Proteomics & Bioinformatics. ISSN 16720229

Alankarage, Dimuthu and Ip, Eddie and Szot, Justin O and Munro, Jacob and Blue, Gillian M and Harrison, Katrina and Cuny, Hartmut and Enriquez, Annabelle and Troup, Michael and Humphreys, David T and Wilson, Meredith and Harvey, Richard P and Sholler, Gary F and Graham, Robert M and Ho, Joshua W K and Kirk, Edwin P and Pachter, Nicholas and Chapman, Gavin and Winlaw, David S and Giannoulatou, Eleni and Dunwoodie, Sally L (2018) Identification of clinically actionable variants from genome sequencing of families with congenital heart disease. Genetics in Medicine, ePub. ISSN 1098-3600 (Not OA)

Szot, Justin O and Cuny, Hartmut and Blue, Gillian M and Humphreys, David T and Ip, Eddie and Harrison, Katrina and Sholler, Gary F and Giannoulatou, Eleni and Leo, Paul J and Duncan, Emma L and Sparrow, Duncan B and Ho, Joshua W K and Graham, Robert M and Pachter, Nicholas S and Chapman, Gavin and Winlaw, David S and Dunwoodie, Sally L (2018) A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. Circulation: Genomic and Precision Medicine, 11 (3). pp. e001978. ISSN (Not OA)

Slavotinek, Anne and Risolino, Maurizio and Losa, Marta and Cho, Megan T and Monaghan, Kristin G. and Schneidman-Duhovny, Dina and Parisotto, Sarah and Herkert, Johanna C and Stegmann, Alexander P.A. and Miller, Kathryn and Shur, Natasha and Chui, Jacqueline and Muller, Eric and DeBrosse, Suzanne and Szot, Justin O and Chapman, Gavin and Pachter, Nicholas S and Winlaw, David S and Mendelsohn, Bryce A. and Dalton, Joline and Sarafoglou, Kyriakie and Karachunski, Peter I. and Lewis, Jane M and Pedro, Helio and Dunwoodie, Sally L and Selleri, Licia and Shieh, Joseph (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 (24). pp.4849-4860. ISSN 0964-6906 (Not OA)

Shi, Hongjun and Enriquez, Annabelle and Rapadas, Melissa and Martin, Ella M M A and Wang, Roni and Moreau, Julie and Lim, Chai K and Szot, Justin O and Ip, Eddie and Hughes, James N and Sugimoto, Kotaro and Humphreys, David T and McInerney-Leo, Aideen M and Leo, Paul J and Maghzal, Ghassan J and Halliday, Jake and Smith, Janine and Colley, Alison and Mark, Paul R and Collins, Felicity and Sillence, David O and Winlaw, David S and Ho, Joshua W K and Guillemin, Gilles J and Brown, Matthew A and Kikuchi, Kazu and Thomas, Paul Q and Stocker, Roland and Giannoulatou, Eleni and Chapman, Gavin and Duncan, Emma L and Sparrow, Duncan B and Dunwoodie, Sally L (2017) NAD Deficiency, Congenital Malformations, and Niacin Supplementation. The New England Journal of Medicine, 377 (6). pp.544-552. ISSN 1533-4406 (OA)

Blue, Gillian M and Humphreys, David and Szot, Justin and Major, Joelene and Chapman, Gavin and Bosman, Alexis and Kirk, Edwin P and Sholler, Gary F and Harvey, Richard P and Dunwoodie, Sally L and Winlaw, David S (2017) The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease. International Journal of Cardiology, 230. pp.155-163. ISSN 1874-1754 (PP OA)

Shi, Hongjun and O'Reilly, Victoria C and Moreau, Julie L M and Bewes, Therese R and Yam, Michelle X and Chapman, Bogdan E and Grieve, Stuart M and Stocker, Roland and Graham, Robert M and Chapman, Gavin and Sparrow, Duncan B and Dunwoodie, Sally L (2016) Gestational stress induces the unfolded protein response, resulting in heart defects. Development, 143 (14). pp.2561-72. ISSN 1477-9129 (OA)

Chapman, Gavin and Major, J A and Iyer, K Swaminathan and James, Alexander C and Pursglove, S E and Moreau, J L M and Dunwoodie, Sally L (2016) Notch1 endocytosis is induced by ligand and is required for signal transduction. Biochimica et Biophysica Acta, 1863 (1). pp.166-77. ISSN 0006-3002 (OA)

Bouveret, Romaric and Waardenberg, Ashley J and Schonrock, Nicole and Ramialison, Mirana and Doan, Tram and de Jong, Danielle and Bondue, Antoine and Kaur, Gurpreet and Mohamed, Stephanie and Fonoudi, Hananeh and Chen, Chiann-Mun and Wouters, Merridee A and Bhattacharya, Shoumo and Plachta, Nicolas and Dunwoodie, Sally L and Chapman, Gavin and Blanpain, Cédric and Harvey, Richard P (2015) NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets. eLife, 4. ISSN 2050-084X (OA)

Moreau, Julie L M and Artap, Stanley T and Shi, Hongjun and Chapman, Gavin and Leone, Gustavo and Sparrow, Duncan B and Dunwoodie, Sally L (2014) Cited2 is required in trophoblasts for correct placental capillary patterning. Developmental Biology, 392 (1). pp.62-79. ISSN 1095-564X (OA)

O'Reilly, Victoria C and Lopes Floro, Kylie and Shi, Hongjun and Chapman, Bogdan E and Preis, Jost I and James, Alexander C and Chapman, Gavin and Harvey, Richard P and Johnson, Randall S and Grieve, Stuart M and Sparrow, Duncan B and Dunwoodie, Sally L (2014) Gene-environment interaction demonstrates the vulnerability of the embryonic heart. Developmental Biology, 391 (1). pp.99-110. ISSN 1095-564X (OA)

James, Alexander C and Szot, Justin and Iyer, K Swaminathan and Major, Joelene A and Pursglove, Sharon and Chapman, Gavin and Dunwoodie, Sally L (2014) Notch4 reveals a novel mechanism regulating Notch signal transduction. Biochimica et Biophysica Acta, 1843 (7). pp.1272-84. ISSN 0006-3002 (OA)

Sparrow, Duncan B and Chapman, Gavin and Smith, Allanceson J and Mattar, Muhammad Z and Major, Joelene A and O'Reilly, Victoria C and Saga, Yumiko and Zackai, Elaine H and Dormans, John P and Alman, Benjamin A and McGregor, Lesley and Kageyama, Ryoichiro and Kusumi, Kenro and Dunwoodie, Sally L (2012) A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell, 149 (2). pp.295-306. ISSN 1097-4172 (OA)