Browse by UCL people
Group by: Type | Date
Number of items: 48.
Article
Alam-Faruque, Y;
Huntley, RP;
Khodiyar, VK;
Camon, EB;
Dimmer, EC;
Sawford, T;
Martin, MJ;
... Lovering, RC; + view all
(2011)
The impact of focused Gene Ontology curation of specific mammalian systems.
PLOS One
, 6
(12)
, Article e27541. 10.1371/journal.pone.0027541.
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Asfahani, R;
Tahoun, MM;
Miller-Hodges, EV;
Bellerby, J;
Virasami, AK;
Sampson, RD;
Moulding, D;
... Waters, AM; + view all
(2018)
Activation of podocyte Notch mediates early Wt1 glomerulopathy.
Kidney International
10.1016/j.kint.2017.11.014.
(In press).
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Boldt, K;
Van Reeuwijk, J;
Lu, Q;
Koutroumpas, K;
Nguyen, TM;
Texier, Y;
Van Beersum, SE;
... UK10K Rare Diseases Group; + view all
(2016)
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Nature Communications
, 7
, Article 11491. 10.1038/ncomms11491.
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Burger, NB;
Haak, MC;
Kok, E;
de Groot, CJM;
Shou, W;
Scambler, PJ;
Lee, Y;
... Bekker, MN; + view all
(2016)
Cardiac defects, nuchal edema and abnormal lymphatic development are not associated with morphological changes in the ductus venosus.
Early Human Development
, 101
pp. 39-48.
10.1016/j.earlhumdev.2016.05.017.
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Cai, A;
Ye, G;
Placier, S;
Frère, P;
Surin, B;
Vandermeersch, S;
Kormann, R;
... Calmont, A; + view all
(2022)
Genetic inactivation of Semaphorin 3C protects mice from acute kidney injury.
Kidney International
, 101
(4)
pp. 720-732.
10.1016/j.kint.2021.12.028.
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Calmont, A;
Anderson, N;
Suntharalingham, JP;
Ang, R;
Tinker, A;
Scambler, PJ;
(2018)
Defective Vagal Innervation in Murine Tbx1 Mutant Hearts.
Journal of Cardiovascular Development and Disease
, 5
(4)
, Article 49. 10.3390/jcdd5040049.
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Carnaghan, H;
Roberts, T;
Savery, D;
Norris, FC;
McCann, CJ;
Copp, AJ;
Scambler, PJ;
... Eaton, S; + view all
(2013)
Novel exomphalos genetic mouse model: The importance of accurate phenotypic classification.
J Pediatr Surg
, 48
(10)
2036 - 2042.
10.1016/j.jpedsurg.2013.04.010.
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Cheung, MY-Q;
Roberts, C;
Scambler, P;
Stathopoulou, A;
(2021)
Setd5 is required in cardiopharyngeal mesoderm for heart development and its haploinsufficiency is associated with outflow tract defects in mouse.
Genesis
, Article e23421. 10.1002/dvg.23421.
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Corsten-Janssen, N;
Scambler, PJ;
(2017)
Clinical and molecular effects of CHD7 in the heart.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
, 175
(4)
pp. 487-495.
10.1002/ajmg.c.31590.
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Dilg, D;
Saleh, RNM;
Phelps, SEL;
Rose, Y;
Dupays, L;
Murphy, C;
Mohun, T;
... Chapgier, ALA; + view all
(2016)
HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3.
PLOS ONE
, 11
(8)
10.1371/journal.pone.0161096.
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Dykes, IM;
van Bueren, KL;
Scambler, PJ;
(2018)
HIC2 regulates isoform switching during maturation of the cardiovascular system.
Journal of Molecular and Cellular Cardiology
, 114
pp. 29-37.
10.1016/j.yjmcc.2017.10.007.
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Gonzalez-Meljem, JM;
Ivins, S;
Andoniadou, CL;
Le Tissier, P;
Scambler, P;
Martinez-Barbera, JP;
(2023)
An expression and function analysis of the CXCR4/SDF-1 signalling axis during pituitary gland development.
PLOS ONE
, 18
, Article e0280001. 10.1371/journal.pone.0280001.
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Halbritter, J;
Bizet, AA;
Schmidts, M;
Porath, JD;
Braun, DA;
Gee, HY;
McInerney-Leo, AM;
... Hildebrandt, F; + view all
(2013)
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans.
Am J Hum Genet
, 93
(5)
pp. 915-925.
10.1016/j.ajhg.2013.09.012.
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Hartill, VL;
van de Hoek, G;
Patel, MP;
Little, R;
Watson, CM;
Berry, IR;
Shoemark, A;
... Johnson, CA; + view all
(2017)
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Human Molecular Genetics
10.1093/hmg/ddx422.
(In press).
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Huang, J;
Howie, B;
McCarthy, S;
Memari, Y;
Walter, K;
Min, JL;
Danecek, P;
... Soranzo, N; + view all
(2015)
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Nature Communications
, 6
(811)
10.1038/ncomms9111.
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Ivins, S;
Chappell, J;
Vernay, B;
Suntharalingham, J;
Martineau, A;
Mohun, TJ;
Scambler, PJ;
(2015)
The CXCL12/CXCR4 Axis Plays a Critical Role in Coronary Artery Development.
Developmental Cell
, 33
(4)
pp. 455-468.
10.1016/j.devcel.2015.03.026.
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Ivins, SM;
Roberts, C;
Vernay, B;
Scambler, P;
(2016)
Analysis of coronary vessels in cleared embryonic hearts.
Journal of Visualized Experiments
, 118
, Article e54800. 10.3791/54800.
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Jafree, DJ;
Long, DA;
Scambler, PJ;
Moulding, D;
(2019)
Tissue Clearing and Deep Imaging of the Kidney Using Confocal and Two-Photon Microscopy.
Methods in Molecular Biology
, 2067
pp. 103-126.
10.1007/978-1-4939-9841-8_8.
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Jafree, DJ;
Long, DA;
Scambler, PJ;
Ruhrberg, C;
(2021)
Mechanisms and cell lineages in lymphatic vascular development.
Angiogenesis
10.1007/s10456-021-09784-8.
(In press).
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Jafree, DJ;
Moulding, D;
Kolatsi-Joannou, M;
Perretta Tejedor, N;
Price, KL;
Milmoe, NJ;
Walsh, CL;
... Long, DA; + view all
(2020)
Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney disease.
eLife
, 8
, Article e48183. 10.7554/eLife.48183.
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Lemonde, HA;
Custard, EJ;
Bouquet, J;
Duran, M;
Overmars, H;
Scambler, PJ;
Clayton, PT;
(2003)
Mutations in SRD5B1 (AKR1D1), the gene encoding Delta(4)-3-oxosteroid 5 beta-reductase, in hepatitis and liver failure in infancy.
GUT
, 52
(10)
1494 - 1499.
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Logan, CV;
Szabadkai, G;
Sharpe, JA;
Parry, DA;
Torelli, S;
Childs, AM;
Kriek, M;
... Sheridan, E; + view all
(2014)
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Nature Genetics
, 46
(2)
pp. 188-193.
10.1038/ng.2851.
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Mahmoud, M;
Evans, I;
Wisniewski, L;
Tam, Y;
Walsh, C;
Walker-Samuel, S;
Frankel, P;
... Zachary, I; + view all
(2021)
Bcar1/p130Cas is essential for ventricular development and neural crest cell remodelling of the cardiac outflow tract.
Cardiovascular Research
, Article cvab24. 10.1093/cvr/cvab242.
(In press).
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McInerney-Leo, AM;
Schmidts, M;
Cortés, CR;
Leo, PJ;
Gener, B;
Courtney, AD;
Gardiner, B;
... Wicking, C; + view all
(2013)
Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60.
Am J Hum Genet
, 93
(3)
pp. 515-523.
10.1016/j.ajhg.2013.06.022.
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Monfort, Asun;
Di Minin, Giulio;
Sting, Sarah;
Dumeau, Charles Etienne;
Scambler, Peter;
Wutz, Anton;
(2025)
Ubinuclein 2 is essential for mouse development and functions in X chromosome inactivation.
PLoS Genetics
, 21
(6)
, Article e1011711. 10.1371/journal.pgen.1011711.
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Morrow, BE;
McDonald-McGinn, DM;
Emanuel, BS;
Vermeesch, JR;
Scambler, PJ;
(2018)
Molecular genetics of 22q11.2 deletion syndrome.
American Journal of Medical Genetics Part A
, 176
(10)
pp. 2070-2081.
10.1002/ajmg.a.40504.
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Norris, FC;
Siow, BM;
Cleary, JO;
Wells, JA;
De Castro, SC;
Ordidge, RJ;
Greene, ND;
... Lythgoe, MF; + view all
(2015)
Diffusion microscopic MRI of the mouse embryo: Protocol and practical implementation in the splotch mouse model.
Magnetic Resonance in Medicine
, 73
(2)
731 - 739.
10.1002/mrm.25145.
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Olcese, C;
Patel, MP;
Shoemark, A;
Kiviluoto, S;
Legendre, M;
Williams, HJ;
Vaughan, CK;
... Mitchison, HM; + view all
(2017)
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Nature Communications
, 8
, Article 14279. 10.1038/ncomms14279.
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Onoufriadis, A;
Shoemark, A;
Munye, MM;
James, CT;
Schmidts, M;
Patel, M;
Rosser, EM;
... Mitchison, HM; + view all
(2013)
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
Journal of Medical Genetics
10.1136/jmedgenet-2013-101938.
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Page, M;
Ridge, L;
Gold Diaz, D;
Tsogbayar, T;
Scambler, PJ;
Ivins, S;
(2018)
Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency.
PLoS One
, 13
(11)
, Article e0207251. 10.1371/journal.pone.0207251.
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Payne, S;
Burney, MJ;
McCue, K;
Popal, N;
Davidson, SM;
Anderson, RH;
Scambler, PJ;
(2015)
A critical role for the chromatin remodeller CHD7 in anterior mesoderm during cardiovascular development.
Developmental Biology
, 405
(1)
pp. 82-95.
10.1016/j.ydbio.2015.06.017.
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Ridge, LA;
Kewbank, D;
Schuetz, D;
Stumm, R;
Scambler, PJ;
Ivins, S;
(2021)
Dual role for CXCL12 signaling in semilunar valve development.
Cell Reports
, 36
(8)
, Article 109610. 10.1016/j.celrep.2021.109610.
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Roberts, TA;
Norris, FC;
Carnaghan, H;
Savery, D;
Wells, JA;
Siow, B;
Scambler, PJ;
... Lythgoe, MF; + view all
(2014)
In Amnio MRI of Mouse Embryos.
PLoS One
, 9
(10)
, Article e109143 . 10.1371/journal.pone.0109143.
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Saleh, RNM;
Dilg, D;
Abou Zeid, AA;
Hashad, DI;
Scambler, PJ;
Chapgier, ALA;
(2018)
HIRA directly targets the enhancers of selected cardiac transcription factors during in vitro differentiation of mouse embryonic stem cells.
Molecular Biology Reports
, 45
(5)
pp. 1001-1011.
10.1007/s11033-018-4247-z.
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Scambler, Peter;
(2025)
Six at Sixty. ‘Have you tested for 22q?’.
Journal of Medical Genetics
, 62
(2)
pp. 147-149.
10.1136/jmg-2024-110504.
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Schmidts, M;
Arts, HH;
Bongers, EM;
Yap, Z;
Oud, MM;
Antony, D;
Duijkers, L;
... Mitchison, HM; + view all
(2013)
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
J Med Genet
, 50
(5)
309 - 323.
10.1136/jmedgenet-2012-101284.
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Schmidts, M;
Hou, Y;
Cortés, CR;
Mans, DA;
Huber, C;
Boldt, K;
Patel, M;
... Witman, GB; + view all
(2015)
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Nature Communications
, 6
, Article 7074. 10.1038/ncomms8074.
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Schmidts, M;
Vodopiutz, J;
Christou-Savina, S;
Cortés, CR;
McInerney-Leo, AM;
Emes, RD;
Arts, HH;
... Mitchison, HM; + view all
(2013)
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy.
The American Journal of Human Genetics
, 93
(5)
932 - 944.
10.1016/j.ajhg.2013.10.003.
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Seda, M;
Geerlings, M;
Lim, P;
Jayabalan-Srikaran, J;
Cichon, A-C;
Scambler, PJ;
Beales, PL;
... Jenkins, D; + view all
(2019)
An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis.
Molecuar Syndromology
, 10
(1-2)
10.1159/000491567.
(In press).
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Stathopoulou, Athanasia;
Wang, Ping;
Thellier, Charlotte;
Kelly, Robert G;
Zheng, Deyou;
Scambler, Peter J;
(2023)
CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression.
Cardiovascular Research
, 119
pp. 2089-2105.
10.1093/cvr/cvad059.
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Walter, K;
Min, JL;
Huang, J;
Crooks, L;
Memari, Y;
McCarthy, S;
Perry, JRB;
... Zhang, W; + view all
(2015)
The UK10K project identifies rare variants in health and disease.
Nature
, 526
(7571)
pp. 82-90.
10.1038/nature14962.
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Wong, YF;
Kopp, JB;
Roberts, C;
Scambler, PJ;
Abe, Y;
Rankin, AC;
Dutt, N;
... Xu, QH; + view all
(2011)
Endogenous Retinoic Acid Activity in Principal Cells and Intercalated Cells of Mouse Collecting Duct System.
PLOS ONE
, 6
(2)
, Article e16770. 10.1371/journal.pone.0016770.
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Conference item
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Jafree, D;
Moulding, D;
Kolatsi-Joannou, M;
Perretta Tejedor, N;
Price, K;
Walker-Samuel, S;
Riley, PR;
... Long, DA; + view all
(2019)
Using three-dimensional imaging to study how kidney lymphatic vessels develop.
Presented at: UK Kidney Week 2019, Brighton, UK.
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Jafree, D;
Moulding, D;
Kolatsi-Joannou, M;
Perretta Tejedor, N;
Price, K;
Woolf, AS;
Riley, PR;
... Long, DA; + view all
(2019)
Using three-dimensional imaging to capture kidney lymphatics in development and disease.
Presented at: 1st UK Lymphatic Science Meeting 2019, Birmingham, UK.
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Jafree, D;
Moulding, D;
Kolatsi-Joannou, M;
Woolf, AS;
Riley, P;
Scambler, P;
Long, DA;
(2018)
Dynamics and heterogeneity of renal lymphatic vessel development.
Presented at: Europhysiology 2018, London, UK.
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Jafree, D;
Moulding, D;
Kolatsi-Joannou, M;
Woolf, AS;
Riley, P;
Scambler, P;
Long, DA;
(2018)
Unravelling the origins of the renal lymphatics.
Presented at: Renaltract Conference 2018, Manchester, UK.
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Thesis
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Murphy, C;
(2016)
Dissecting the genetic architecture of cardiac disorders through the use of next generation sequencing.
Doctoral thesis , UCL (University College London).
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Navarro-Aragall, Ariadna Gador;
(2019)
Mechanisms in murine cardiovascular development.
Doctoral thesis (Ph.D), UCL (University College London).
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