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The Kids Heart BioBank: supporting 20 years of patient care and research into CHD.
Published in:
Cardiology in the Young, 2024, v. 34, n. 8, p. 1645, doi. 10.1017/S1047951124025654
By:
- Hilton, Desiree C.K.;
- O'Malley, Bridget R.;
- Cole, Andrew D.;
- Harvey, Richard P.;
- Dunwoodie, Sally L.;
- Sholler, Gary F.;
- Winlaw, David S.;
- Blue, Gillian M.
Publication type:
Article
Examination of validity of identifying congenital heart disease from hospital discharge data without a gold standard: Using a data linkage approach.
Published in:
Paediatric & Perinatal Epidemiology, 2023, v. 37, n. 4, p. 303, doi. 10.1111/ppe.12976
By:
- He, Wen‐Qiang;
- Nassar, Natasha;
- Schneuer, Francisco J.;
- Lain, Samantha J.;
- Dunwoodie, Sally L.;
- Winlaw, David;
- Giannoulatou, Eleni;
- Kirk, Edwin;
- Chapman, Gavin;
- Blue, Gillian;
- Sholler, Gary
Publication type:
Article
NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets.
Published in:
eLife, 2015, p. 1, doi. 10.7554/eLife.06942
By:
- Bouveret, Romaric;
- Waardenberg, Ashley J.;
- Schonrock, Nicole;
- Ramialison, Mirana;
- Doan, Tram;
- de Jong, Danielle;
- Bondue, Antoine;
- Kaur, Gurpreet;
- Mohamed, Stephanie;
- Fonoudi, Hananeh;
- Chiann-mun Chen;
- Wouters, Merridee A.;
- Bhattacharya, Shoumo;
- Plachta, Nicolas;
- Dunwoodie, Sally L.;
- Chapman, Gavin;
- Blanpain, Cedric;
- Harvey, Richard P.
Publication type:
Article
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1664, doi. 10.1002/ajmg.a.61607
By:
- Al Dhaheri, Noura;
- Wu, Nan;
- Zhao, Sen;
- Wu, Zhihong;
- Blank, Robert D.;
- Zhang, Jianguo;
- Raggio, Cathy;
- Halanski, Matthew;
- Shen, Jianxiong;
- Noonan, Ken;
- Qiu, Guixing;
- Nemeth, Blaise;
- Sund, Sarah;
- Dunwoodie, Sally L.;
- Chapman, Gavin;
- Glurich, Ingrid;
- Steiner, Robert D.;
- Wohler, Elizabeth;
- Martin, Renan;
- Sobreira, Nara Lygia
Publication type:
Article
Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 253, doi. 10.1002/ajmg.a.38550
By:
- Giampietro, Philip F.;
- Pourquie, Olivier;
- Raggio, Cathy;
- Ikegawa, Shiro;
- Turnpenny, Peter D.;
- Gray, Ryan;
- Dunwoodie, Sally L.;
- Gurnett, Christina A.;
- Alman, Benjamin;
- Cheung, Kenneth;
- Kusumi, Kenro;
- Hadley‐Miller, Nancy;
- Wise, Carol A.
Publication type:
Article
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2244, doi. 10.1002/ajmg.a.36073
By:
- Sparrow, Duncan B.;
- Faqeih, Eissa Ali;
- Sallout, Bahauddin;
- Alswaid, Abdulrahman;
- Ababneh, Faroug;
- Al ‐ Sayed, MoeENaldeEN;
- Rukban, Hadeel;
- Eyaid, Wafaa M.;
- Kageyama, Ryoichiro;
- Ellard, Sian;
- TurnpENny, Peter D.;
- Dunwoodie, Sally L.
Publication type:
Article
Renal developmental defects resulting from in utero hypoxia are associated with suppression of ureteric β-catenin signaling.
Published in:
Kidney International, 2015, v. 87, n. 5, p. 975, doi. 10.1038/ki.2014.394
By:
- Wilkinson, Lorine J;
- Neal, Cailda S;
- Singh, Reetu R;
- Sparrow, Duncan B;
- Kurniawan, Nyoman D;
- Ju, Adler;
- Grieve, Stuart M;
- Dunwoodie, Sally L;
- Moritz, Karen M;
- Little, Melissa H
Publication type:
Article
SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation.
Published in:
Nature Genetics, 2008, v. 40, n. 5, p. 663, doi. 10.1038/ng.142
By:
- Blewitt, Marnie E.;
- Gendrel, Anne-Valerie;
- Pang, Zhenyi;
- Sparrow, Duncan B.;
- Whitelaw, Nadia;
- Craig, Jeffrey M.;
- Apedaile, Anwyn;
- Hilton, Douglas J.;
- Dunwoodie, Sally L.;
- Brockdorff, Neil;
- Kay, Graham F.;
- Whitelaw, Emma
Publication type:
Article
Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans.
Published in:
Annals of the New York Academy of Sciences, 2009, v. 1151, p. 38, doi. 10.1111/j.1749-6632.2008.03452.x
By:
- Giampietro, Philip F.;
- Dunwoodie, Sally L.;
- Kusumi, Kenro;
- Pourquié, Olivier;
- Tassy, Olivier;
- Offiah, Amaka C.;
- Cornier, Alberto S.;
- Alman, Benjamin A.;
- Blank, Robert D.;
- Raggio, Cathleen L.;
- Glurich, Ingrid;
- Turnpenny, Peter D.
Publication type:
Article
Complex SUMO-1 Regulation of Cardiac Transcription Factor Nkx2-5.
Published in:
PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024812
By:
- Costa, Mauro W.;
- Stella Lee;
- Furtado, Milena B.;
- Li Xin;
- Sparrow, Duncan B.;
- Martinez, Camila G.;
- Dunwoodie, Sally L.;
- Kurtenbach, Eleonora;
- Mohun, Tim;
- Rosenthal, Nadia;
- Harvey, Richard P.
Publication type:
Article
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 6, p. 674, doi. 10.1038/ejhg.2009.241
By:
- Sparrow, Duncan B.;
- Sillence, David;
- Wouters, Merridee A.;
- Turnpenny, Peter D.;
- Dunwoodie, Sally L.
Publication type:
Article
Cited2, a coactivator of HNF4α, is essential for liver development.
Published in:
EMBO Journal, 2007, v. 26, n. 21, p. 4445, doi. 10.1038/sj.emboj.7601883
By:
- Xiaoling Qu;
- Eric Lam;
- Yong-Qiu Doughman;
- Yu Chen;
- Yu-Ting Chou;
- Minh Lam;
- Turakhia, Mona;
- Dunwoodie, Sally L;
- Watanabe, Michiko;
- Bing Xu;
- Duncan, Stephen A.;
- Yu-Chung Yang
Publication type:
Article
CITED2 inhibits STAT1-IRF1 signaling and atherogenesis.
Published in:
FASEB Journal, 2021, v. 35, n. 9, p. 1, doi. 10.1096/fj.202100792R
By:
- Zafar, Atif;
- Hang Pong Ng;
- Diamond-Zaluski, Rachel;
- Gun-Dong Kim;
- Chan, Ernest Ricky;
- Dunwoodie, Sally L.;
- Smith, Jonathan D.;
- Mahabeleshwar, Ganapati H.
Publication type:
Article
CITED2 limits pathogenic inflammatory gene programs in myeloid cells.
Published in:
FASEB Journal, 2020, v. 34, n. 9, p. 12100, doi. 10.1096/fj.202000864R
By:
- Hang Pong Ng;
- Gun-Dong Kim;
- Chan, E. Ricky;
- Dunwoodie, Sally L.;
- Mahabeleshwar, Ganapati H.
Publication type:
Article
Viewing teratogens through the lens of nicotinamide adenine dinucleotide (NAD+).
Published in:
Birth Defects Research, 2022, v. 114, n. 20, p. 1313, doi. 10.1002/bdr2.2089
By:
- Mark, Paul R.;
- Dunwoodie, Sally L.
Publication type:
Article
Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects.
Published in:
Developmental Dynamics, 2008, v. 237, n. 6, p. 1754, doi. 10.1002/dvdy.21580
By:
- Loomes, Kathleen M.;
- Stevens, Stacey A.;
- O'Brien, Megan L.;
- Gonzalez, Dorian M.;
- Ryan, Matthew J.;
- Segalov, Michelle;
- Dormans, Nicholas J.;
- Mimoto, Mizuho S.;
- Gibson, Joshua D.;
- Sewell, William;
- Schaffer, Alyssa A.;
- Nah, Hyun-Duck;
- Rappaport, Eric F.;
- Pratt, Stephen C.;
- Dunwoodie, Sally L.;
- Kusumi, Kenro
Publication type:
Article
Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects.
Published in:
Developmental Dynamics, 2007, v. 236, n. 10, p. 2943, doi. 10.1002/dvdy.21296
By:
- Loomes, Kathleen M.;
- Stevens, Stacey A.;
- O'Brien, Megan L.;
- Gonzalez, Dorian M.;
- Ryan, Matthew J.;
- Segalov, Michelle;
- Dormans, Nicholas J.;
- Mimoto, Mizuho S.;
- Gibson, Joshua D.;
- Sewell, William;
- Schaffer, Alyssa A.;
- Nah, Hyun-Duck;
- Rappaport, Eric F.;
- Pratt, Stephen C.;
- Dunwoodie, Sally L.;
- Kusumi, Kenro
Publication type:
Article
Divergent functions and distinct localization of the Notch ligands DLL1 and DLL3 in vivo.
Published in:
Journal of Cell Biology, 2007, v. 178, n. 3, p. 465, doi. 10.1083/jcb.200702009
By:
- Geffers, Insa;
- Serth, Katrin;
- Chapman, Gavin;
- Jaekel, Robert;
- Schuster-Gossler, Karin;
- Cordes, Ralf;
- Sparrow, Duncan B.;
- Kremmer, Elisabeth;
- Dunwoodie, Sally L.;
- Klein, Thomas;
- Gossler, Achim
Publication type:
Article
Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line.
Published in:
eLife, 2023, p. 1, doi. 10.7554/eLife.83606
By:
- Marjaneh, Mahdi Moradi;
- Kirk, Edwin P.;
- Patrick, Ralph;
- Alankarage, Dimuthu;
- Humphreys, David T.;
- Monte-Nieto, Gonzalo Del;
- Cornejo-Paramo, Paola;
- Janbandhu, Vaibhao;
- Doan, Tram B.;
- Dunwoodie, Sally L.;
- Wong, Emily S.;
- Moran, Chris;
- Martin, Ian CA;
- Thomson, Peter C.;
- Harvey, Richard P.
Publication type:
Article
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 7, p. 1068, doi. 10.1093/hmg/ddz231
By:
- Alankarage, Dimuthu;
- Szot, Justin O.;
- Pachter, Nick;
- Slavotinek, Anne;
- Selleri, Licia;
- Shieh, Joseph T.;
- Winlaw, David;
- Giannoulatou, Eleni;
- Chapman, Gavin;
- Dunwoodie, Sally L.
Publication type:
Article
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 5, p. 1234, doi. 10.1093/hmg/ddu534
By:
- McInerney-Leo, Aideen M.;
- Sparrow, Duncan B.;
- Harris, Jessica E.;
- Gardiner, Brooke B.;
- Marshall, Mhairi S.;
- O'Reilly, Victoria C.;
- Shi, Hongjun;
- Brown, Matthew A.;
- Leo, Paul J.;
- Zankl, Andreas;
- Dunwoodie, Sally L.;
- Duncan, Emma L.
Publication type:
Article
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 8, p. 1625, doi. 10.1093/hmg/ddt012
By:
- Sparrow, Duncan B.;
- McInerney-Leo, Aideen;
- Gucev, Zoran S.;
- Gardiner, Brooke;
- Marshall, Mhairi;
- Leo, Paul J.;
- Chapman, Deborah L.;
- Tasic, Velibor;
- Shishko, Abduhadi;
- Brown, Matthew A.;
- Duncan, Emma L.;
- Dunwoodie, Sally L.
Publication type:
Article
The mouse notches up another success: understanding the causes of human vertebral malformation.
Published in:
Mammalian Genome, 2011, v. 22, n. 7/8, p. 362, doi. 10.1007/s00335-011-9335-5
By:
- Sparrow, Duncan B.;
- Chapman, Gavin;
- Dunwoodie, Sally L.
Publication type:
Article
Myeloid-CITED2 Deficiency Exacerbates Diet-Induced Obesity and Pro-Inflammatory Macrophage Response.
Published in:
Cells (2073-4409), 2023, v. 12, n. 17, p. 2136, doi. 10.3390/cells12172136
By:
- Zafar, Atif;
- Ng, Hang Pong;
- Chan, E. Ricky;
- Dunwoodie, Sally L.;
- Mahabeleshwar, Ganapati H.
Publication type:
Article
Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.692257
By:
- Ip, Eddie K. K.;
- Troup, Michael;
- Xu, Colin;
- Winlaw, David S.;
- Dunwoodie, Sally L.;
- Giannoulatou, Eleni
Publication type:
Article
<i>Cited1</i> Deficiency Suppresses Intestinal Tumorigenesis.
Published in:
PLoS Genetics, 2013, v. 9, n. 8, p. 1, doi. 10.1371/journal.pgen.1003638
By:
- Méniel, Valérie;
- Song, Fei;
- Phesse, Toby;
- Young, Madeleine;
- Poetz, Oliver;
- Parry, Lee;
- Jenkins, John R.;
- Williams, Geraint T.;
- Dunwoodie, Sally L.;
- Watson, Alastair;
- Clarke, Alan R.
Publication type:
Article
A cell autonomous role for the Notch ligand Delta-like 3 in αβ T-cell development.
Published in:
Immunology & Cell Biology, 2011, v. 89, n. 6, p. 696, doi. 10.1038/icb.2010.154
By:
- Hoyne, Gerard F.;
- Chapman, Gavin;
- Sontani, Yovina;
- Pursglove, Sharon E.;
- Dunwoodie, Sally L.
Publication type:
Article
Loss of Cited2 causes congenital heart disease by perturbing left–right patterning of the body axis.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 6, p. 1097, doi. 10.1093/hmg/ddq554
By:
- Lopes Floro, Kylie;
- Artap, Stanley T.;
- Preis, Jost I.;
- Fatkin, Diane;
- Chapman, Gavin;
- Furtado, Milena B.;
- Harvey, Richard P.;
- Hamada, Hiroshi;
- Sparrow, Duncan B.;
- Dunwoodie, Sally L.
Publication type:
Article
Notch inhibition by the ligand Delta-Like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 5, p. 905, doi. 10.1093/hmg/ddq529
By:
- Chapman, Gavin;
- Sparrow, Duncan B.;
- Kremmer, Elisabeth;
- Dunwoodie, Sally L.
Publication type:
Article
Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 23, p. 3761, doi. 10.1093/hmg/ddn272
By:
- Sparrow, Duncan B.;
- Guillén-Navarro, Encarna;
- Fatkin, Diane;
- Dunwoodie, Sally L.
Publication type:
Article
Evolution of distinct EGF domains with specific functions.
Published in:
Protein Science: A Publication of the Protein Society, 2005, v. 14, n. 4, p. 1091, doi. 10.1110/ps.041207005
By:
- Wouters, Merridee A.;
- Rigoutsos, Isidore;
- Chu, Carmen K.;
- Feng, Lina L.;
- Sparrow, Duncan B.;
- Dunwoodie, Sally L.
Publication type:
Article
ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data.
Published in:
BMC Bioinformatics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12859-023-05154-x
By:
- Gudkov, Mikhail;
- Thibaut, Loïc;
- Khushi, Matloob;
- Blue, Gillian M.;
- Winlaw, David S.;
- Dunwoodie, Sally L.;
- Giannoulatou, Eleni
Publication type:
Article
Spliceogen: an integrative, scalable tool for the discovery of splice-altering variants.
Published in:
Bioinformatics, 2019, v. 35, n. 21, p. 4405, doi. 10.1093/bioinformatics/btz263
By:
- Monger, Steven;
- Troup, Michael;
- Ip, Eddie;
- Dunwoodie, Sally L;
- Giannoulatou, Eleni
Publication type:
Article
SVPV: a structural variant prediction viewer for paired-end sequencing datasets.
Published in:
Bioinformatics, 2017, v. 33, n. 13, p. 2032, doi. 10.1093/bioinformatics/btx117
By:
- Munro, Jacob E.;
- Dunwoodie, Sally L.;
- Giannoulatou, Eleni
Publication type:
Article
Cited2 Regulates Neocortical Layer II/III Generation and Somatosensory Callosal Projection Neuron Development and Connectivity.
Published in:
Journal of Neuroscience, 2016, v. 38, n. 24, p. 6403, doi. 10.1523/JNEUROSCI.4067-15.2016
By:
- Fame, Ryann M.;
- MacDonald, Jessica L.;
- Dunwoodie, Sally L.;
- Takahashi, Emi;
- Macklis, Jeffrey D.
Publication type:
Article
Insulin Downregulates the Transcriptional Coregulator CITED2, an Inhibitor of Proangiogenic Function in Endothelial Cells.
Published in:
2016
By:
- Wang, Xuanchun;
- Lockhart, Samuel M;
- Rathjen, Thomas;
- Albadawi, Hassan;
- Sørensen, Ditte;
- O'Neill, Brian T;
- Dwivedi, Nishant;
- Preil, Simone R;
- Beck, Hans Christian;
- Dunwoodie, Sally L;
- Watkins, Michael T;
- Rasmussen, Lars Melholt;
- Rask-Madsen, Christian
Publication type:
journal article

Found: 36