Items where Author is "Sparrow, Duncan B"

Article

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

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

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)

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)

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)

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)

Wilkinson, Lorine J and Neal, Cailda S and Singh, Reetu R and Sparrow, Duncan B and Kurniawan, Nyoman D and Ju, Adler and Grieve, Stuart M and Dunwoodie, Sally L and Moritz, Karen M and Little, Melissa H (2015) Renal developmental defects resulting from in utero hypoxia are associated with suppression of ureteric β-catenin signaling. Kidney International, 87 (5). pp.975-83. ISSN 1523-1755 (PP OA)

McInerney-Leo, Aideen M and Sparrow, Duncan B and Harris, Jessica E and Gardiner, Brooke B and Marshall, Mhairi S and O'Reilly, Victoria C and Shi, Hongjun and Brown, Matthew A and Leo, Paul J and Zankl, Andreas and Dunwoodie, Sally L and Duncan, Emma L (2015) Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Human Molecular Genetics, 24 (5). pp.1234-42. ISSN 1460-2083 (PP 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)

Sparrow, Duncan B and Faqeih, Eissa Ali and Sallout, Bahauddin and Alswaid, Abdulrahman and Ababneh, Faroug and Al-Sayed, Moeenaldeen and Rukban, Hadeel and Eyaid, Wafaa M and Kageyama, Ryoichiro and Ellard, Sian and Turnpenny, Peter D and Dunwoodie, Sally L (2013) Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 161A (9). pp.2244-9. ISSN 1552-4833 (Not OA)

Sparrow, Duncan B and McInerney-Leo, Aideen and Gucev, Zoran S and Gardiner, Brooke and Marshall, Mhairi and Leo, Paul J and Chapman, Deborah L and Tasic, Velibor and Shishko, Abduhadi and Brown, Matthew A and Duncan, Emma L and Dunwoodie, Sally L (2013) Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Human Molecular Genetics, 22 (8). pp.1625-31. ISSN 1460-2083 (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)