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S. Dunwoodie · SciRah

Researcher profile · Semantic Scholar

S. Dunwoodie

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S. Dunwoodie — researcher profile on SciRah

h-index: 54
Works: 175
Citations: 9,530

Most-cited papers

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis
N. Wu, Ming Xuan, Jian-Qiu Xiao, Zhi-Hong Wu +53 more
2015New England Journal of Medicine282 citations Open access
Semantic Scholar
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
Hong-Jun Shi, Annabelle Enriquez, Melissa Rapadas, Ella M. M. A. Martin +29 more
2017New England Journal of Medicine222 citations Open access
Semantic Scholar
A mechanism for gene-environment interaction in the etiology of congenital scoliosis.
D. Sparrow, G. Chapman, Allanceson J. Smith, Muhammad Z. Mattar +10 more
2012Cell220 citations Open access
Semantic Scholar
Hif-1a suppresses ROS-induced proliferation of cardiac fibroblasts following myocardial infarction
Vaibhao Janbandhu, V. Tallapragada, R. Patrick, Yanzhen Li +11 more
2021Cell Stem Cell203 citations Open access
Semantic Scholar
Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis.
G. Chapman, D. Sparrow, E. Kremmer, S. Dunwoodie
2011Human Molecular Genetics192 citations Open access
Semantic Scholar
Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection
D. Adlam, Timothy M. Olson, N. Combaret, J. Kovacic +233 more
2019Journal of the American College of Cardiology144 citations Open access
Semantic Scholar
Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.
G. Blue, E. P. Kirk, E. Giannoulatou, G. Sholler +3 more
2017Journal of the American College of Cardiology144 citations Open access
Semantic Scholar
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
K. Boycott, T. Hartley, L. Biesecker, R. Gibbs +10 more
2019Cell141 citations Open access
Semantic Scholar
Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.
G. Blue, E. Kirk, E. Giannoulatou, S. Dunwoodie +6 more
2014Journal of the American College of Cardiology103 citations Open access
Semantic Scholar
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
D. Sparrow, A. McInerney-Leo, Z. Gucev, B. Gardiner +8 more
2013Human Molecular Genetics100 citations Open access
Semantic Scholar
Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species
Li Qian, Joshua D. Wythe, Jian-Dong Liu, J. Cartry +20 more
2011Journal of Cell Biology89 citations Open access
Semantic Scholar
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data
J. Szot, H. Cuny, G. Blue, D. Humphreys +13 more
2018Circulation Genomic and Precision Medicine88 citations Open access
Semantic Scholar
‘Big issues’ in neurodevelopment for children and adults with congenital heart disease
C. Verrall, G. Blue, A. Loughran-Fowlds, N. Kasparian +7 more
2019Open Heart84 citations Open access
Semantic Scholar
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
Dimuthu Alankarage, E. Ip, J. Szot, Jacob T. Munro +17 more
2018Genetics in Medicine77 citations Open access
Semantic Scholar
NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets
R. Bouveret, A. Waardenberg, N. Schonrock, M. Ramialison +14 more
2015eLife69 citations Open access
Semantic Scholar
HIF-1α deletion partially rescues defects of hematopoietic stem cell quiescence caused by Cited2 deficiency.
Jin-Wei Du, Yu Chen, Qiang Li, Xiang-Zi Han +6 more
2012Blood68 citations Open access
Semantic Scholar
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Zornitza Stark, Tiffany F. Boughtwood, Matilda A. Haas, J. Braithwaite +54 more
2023American Journal of Human Genetics64 citations Open access
Semantic Scholar
Notch4 reveals a novel mechanism regulating Notch signal transduction.
A. James, J. Szot, K. Iyer, J. Major +3 more
2014Biochimica et Biophysica Acta60 citations Open access
Semantic Scholar
NAD deficiency due to environmental factors or gene–environment interactions causes congenital malformations and miscarriage in mice
H. Cuny, Melissa Rapadas, Jessica M. Gereis, Ella M. M. A. Martin +3 more
2020Proceedings of the National Academy of Sciences of the United States of America59 citations Open access
Semantic Scholar
Loss of Cited2 causes congenital heart disease by perturbing left-right patterning of the body axis.
Kylie Lopes Floro, Stanley T Artap, J. Preis, D. Fatkin +6 more
2011Human Molecular Genetics59 citations
Semantic Scholar
Gene-environment interaction impacts on heart development and embryo survival
Julie L. M. Moreau, S. Kesteven, Ella M. M. A. Martin, Kin Lau +10 more
2019Development57 citations
Semantic Scholar
Cited2 is required in trophoblasts for correct placental capillary patterning.
Julie L. M. Moreau, Stanley T Artap, Hong-Jun Shi, G. Chapman +3 more
2014Developmental Biology54 citations Open access
Semantic Scholar
Gestational stress induces the unfolded protein response, resulting in heart defects
Hong-Jun Shi, Victoria C. O'Reilly, Julie L. M. Moreau, T. Bewes +8 more
2016Development53 citations Open access
Semantic Scholar
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects
A. Slavotinek, M. Risolino, M. Losa, M. Cho +23 more
2017Human Molecular Genetics52 citations Open access
Semantic Scholar
Functional genomics and gene-environment interaction highlight the complexity of Congenital Heart Disease caused by Notch pathway variants.
G. Chapman, Julie L. M. Moreau, E. Ip, J. Szot +18 more
2019Human Molecular Genetics47 citations Open access
Semantic Scholar
Complex SUMO-1 Regulation of Cardiac Transcription Factor Nkx2-5
Mauro W. Costa, S. Lee, Milena B. Furtado, Lia Xin +7 more
2011PLoS ONE46 citations Open access
Semantic Scholar
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
A. McInerney-Leo, D. Sparrow, J. Harris, B. Gardiner +8 more
2015Human Molecular Genetics45 citations Open access
Semantic Scholar
Renal developmental defects resulting from in utero hypoxia are associated with suppression of ureteric β-catenin signaling.
Lorine Wilkinson, C. Neal, Reetu R. Singh, D. Sparrow +6 more
2015Kidney International44 citations Open access
Semantic Scholar
Bi-Allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
J. Szot, Carla Campagnolo, Ye Cao, K. Iyer +12 more
2019American Journal of Human Genetics43 citations Open access
Semantic Scholar
Cited2 Regulates Neocortical Layer II/III Generation and Somatosensory Callosal Projection Neuron Development and Connectivity
R. Fame, J. MacDonald, S. Dunwoodie, E. Takahashi +1 more
2016Journal of Neuroscience35 citations Open access
Semantic Scholar
CITED2 inhibits STAT1-IRF1 signaling and atherogenesis
A. Zafar, Hang-Pong Ng, Rachel Diamond-Zaluski, Gun-Dong Kim +4 more
2021The FASEB Journal34 citations Open access
Semantic Scholar
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus
D. Sparrow, E. Faqeih, B. Sallout, A. Alswaid +8 more
2013American Journal of Medical Genetics. Part A34 citations
Semantic Scholar
Cited2 Gene Controls Pluripotency and Cardiomyocyte Differentiation of Murine Embryonic Stem Cells through Oct4 Gene*
Qiang Li, D. Ramírez-Bergeron, S. Dunwoodie, Yu-Chung Yang
2012Journal of Biological Chemistry34 citations Open access
Semantic Scholar
Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes: JACC Focus Seminar 1/5.
C. Semsarian, J. Ingles, S. Ross, S. Dunwoodie +2 more
2021Journal of the American College of Cardiology33 citations Open access
Semantic Scholar
Spontaneous Coronary Artery Dissection
K. Carss, A. Baranowska, J. Armisén, Tom R. Webb +23 more
2020Circulation Genomic and Precision Medicine32 citations Open access
Semantic Scholar
The mouse notches up another success: understanding the causes of human vertebral malformation
D. Sparrow, G. Chapman, S. Dunwoodie
2011Mammalian Genome30 citations
Semantic Scholar
Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease
G. Blue, E. Ip, K. Walker, E. Kirk +7 more
2018American Heart Journal29 citations
Semantic Scholar
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole Genome Sequencing
I. Tarr, S. Hesselson, S. Iismaa, E. Rath +21 more
2022Circulation Genomic and Precision Medicine28 citations Open access
Semantic Scholar
New Cases that Expand the Genotypic and Phenotypic Spectrum of Congenital NAD Deficiency Disorder
J. Szot, A. Slavotinek, K. Chong, O. Brandau +24 more
2021Human Mutation27 citations Open access
Semantic Scholar
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
R. van de Putte, G. Dworschak, E. Brosens, H. Reutter +23 more
2020Frontiers in Pediatrics27 citations Open access
Semantic Scholar
Spontaneous Coronary Artery Dissection Insights on Rare Genetic Variation From Genome Sequencing
K. Carss, A. Baranowska, J. Armisén, Tom R. Webb +23 more
202026 citations
Semantic Scholar
Cited2 Is Required for the Maintenance of Glycolytic Metabolism in Adult Hematopoietic Stem Cells
Jin-Wei Du, Qiang Li, Fangqiang Tang, Michelle A. Puchowitz +4 more
2013Stem Cells and Development26 citations Open access
Semantic Scholar
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Ella M. M. A. Martin, Annabelle Enriquez, D. Sparrow, D. Humphreys +30 more
2020Human Molecular Genetics25 citations Open access
Semantic Scholar
The Genetics and Development of Scoliosis
K. Kusumi, S. Dunwoodie
2018Cambridge International Law Journal25 citations
Semantic Scholar
Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
Dimuthu Alankarage, J. Szot, N. Pachter, A. Slavotinek +6 more
2019Human Molecular Genetics24 citations Open access
Semantic Scholar
Cited1 Deficiency Suppresses Intestinal Tumorigenesis
V. Méniel, Fei Song, T. Phesse, Madeleine A. Young +7 more
2013PLoS Genetics24 citations Open access
Semantic Scholar
Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice
H. Cuny, Kayleigh Bozon, Rosemary B. Kirk, Delicia Z. Sheng +2 more
2022Disease Models & Mechanisms23 citations Open access
Semantic Scholar
Insulin Downregulates the Transcriptional Coregulator CITED2, an Inhibitor of Proangiogenic Function in Endothelial Cells
Xuan-Chun Wang, Samuel M. Lockhart, T. Rathjen, H. Albadawi +9 more
2016Diabetes23 citations Open access
Semantic Scholar
Cited2, a Transcriptional Modulator Protein, Regulates Metabolism in Murine Embryonic Stem Cells*
Qiang Li, Parvin Hakimi, Xia Liu, Wen‐mei Yu +12 more
2013Journal of Biological Chemistry23 citations Open access
Semantic Scholar
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations
Noura Al Dhaheri, N. Wu, Sen Zhao, Zhi-Hong Wu +17 more
2020American Journal of Medical Genetics. Part A22 citations Open access
Semantic Scholar

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E. Giannoulatou×13
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Ella M. M. A. Martin×6

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E. Ip — researcher profile on SciRah

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