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A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Published in:
Human Genetics, 2021, v. 140, n. 4, p. 593, doi. 10.1007/s00439-020-02228-1
By:
- Nazlamova, Liliya;
- Thomas, N. Simon;
- Cheung, Man-Kim;
- Legebeke, Jelmer;
- Lord, Jenny;
- Pengelly, Reuben J.;
- Tapper, William J.;
- Wheway, Gabrielle
Publication type:
Article
Blood gene expression predicts intensive care unit admission in hospitalised patients with COVID-19.
Published in:
Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.988685
By:
- Penrice-Randal, Rebekah;
- Xiaofeng Dong;
- Shapanis, Andrew George;
- Gardner, Aaron;
- Harding, Nicholas;
- Legebeke, Jelmer;
- Lord, Jenny;
- Vallejo, Andres F.;
- Poole, Stephen;
- Brendish, Nathan J.;
- Hartley, Catherine;
- Williams, Anthony P.;
- Wheway, Gabrielle;
- Polak, Marta E.;
- Strazzeri, Fabio;
- Schofield, James P. R.;
- Skipp, Paul J.;
- Hiscox, Julian A.;
- Clark, Tristan W.;
- Baralle, Diana
Publication type:
Article
Evaluating the Immune Response in Treatment-Naive Hospitalised Patients With Influenza and COVID-19.
Published in:
Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.853265
By:
- Legebeke, Jelmer;
- Lord, Jenny;
- Penrice-Randal, Rebekah;
- Vallejo, Andres F.;
- Poole, Stephen;
- Brendish, Nathan J.;
- Dong, Xiaofeng;
- Hartley, Catherine;
- Holloway, John W.;
- Lucas, Jane S.;
- Williams, Anthony P.;
- Wheway, Gabrielle;
- Strazzeri, Fabio;
- Gardner, Aaron;
- Schofield, James P. R.;
- Skipp, Paul J.;
- Hiscox, Julian A.;
- Polak, Marta E.;
- Clark, Tristan W.;
- Baralle, Diana
Publication type:
Article
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 5, doi. 10.1002/ajmg.c.31965
By:
- Best, Sunayna;
- Inglehearn, Chris F.;
- Watson, Christopher M.;
- Toomes, Carmel;
- Wheway, Gabrielle;
- Johnson, Colin A.
Publication type:
Article
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00850-w
By:
- Macken, William L.;
- Godwin, Annie;
- Wheway, Gabrielle;
- Stals, Karen;
- Nazlamova, Liliya;
- Ellard, Sian;
- Alfares, Ahmed;
- Aloraini, Taghrid;
- AlSubaie, Lamia;
- Alfadhel, Majid;
- Alajaji, Sulaiman;
- Wai, Htoo A.;
- Self, Jay;
- Douglas, Andrew G. L.;
- Kao, Alexander P.;
- Guille, Matthew;
- Baralle, Diana
Publication type:
Article
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Published in:
BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01084-w
By:
- Wheway, Gabrielle;
- Thomas, N. Simon;
- Carroll, Mary;
- Coles, Janice;
- Doherty, Regan;
- Goggin, Patricia;
- Green, Ben;
- Harris, Amanda;
- Hunt, David;
- Jackson, Claire L.;
- Lord, Jenny;
- Mennella, Vito;
- Thompson, James;
- Walker, Woolf T.;
- Lucas, Jane S.
Publication type:
Article
Development and biological evaluation of fluorophosphonate-modified hydroxyapatite for orthopaedic applications.
Published in:
Journal of Materials Science: Materials in Medicine, 2018, v. 29, n. 8, p. 1, doi. 10.1007/s10856-018-6130-9
By:
- Neary, Gráinne;
- Blom, Ashley W.;
- Shiel, Anna I.;
- Wheway, Gabrielle;
- Mansell, Jason P.
Publication type:
Article
Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project.
Published in:
2019
By:
- Wheway, Gabrielle;
- Mitchison, Hannah M.;
- Ambrose, J. C.;
- Baple, E. L.;
- Bleda, M.;
- Boardman-Pretty, F.;
- Boissiere, J. M.;
- Boustred, C. R.;
- Caulfield, M. J.;
- Chan, G. C.;
- Craig, C. E. H.;
- Daugherty, L. C.;
- de, Burca A.;
- Devereau, A.;
- Elgar, G.;
- Foulger, R. E.;
- Fowler, T.;
- Furió-Tarí, P.;
- Hackett, J. M.;
- Halai, D.
Publication type:
Correction Notice
661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies.
Published in:
Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00308
By:
- Wheway, Gabrielle;
- Nazlamova, Liliya;
- Turner, Dann;
- Cross, Stephen
Publication type:
Article
A Combined in silico , in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa.
Published in:
Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00248
By:
- Wheway, Gabrielle;
- Nazlamova, Liliya;
- Meshad, Nervine;
- Hunt, Samantha;
- Jackson, Nicola;
- Churchill, Amanda
Publication type:
Article
Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project.
Published in:
Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00127
By:
- Wheway, Gabrielle;
- Mitchison, Hannah M.
Publication type:
Article
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Published in:
Nature Cell Biology, 2015, v. 17, n. 8, p. 1074, doi. 10.1038/ncb3201
By:
- Wheway, Gabrielle;
- Schmidts, Miriam;
- Mans, Dorus A.;
- Szymanska, Katarzyna;
- Nguyen, Thanh-Minh T.;
- Racher, Hilary;
- Phelps, Ian G.;
- Toedt, Grischa;
- Kennedy, Julie;
- Wunderlich, Kirsten A.;
- Sorusch, Nasrin;
- Abdelhamed, Zakia A.;
- Natarajan, Subaashini;
- Herridge, Warren;
- van Reeuwijk, Jeroen;
- Horn, Nicola;
- Boldt, Karsten;
- Parry, David A.;
- Letteboer, Stef J. F.;
- Roosing, Susanne
Publication type:
Article
Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 330, doi. 10.1111/cge.14251
By:
- Devlin, Laura A.;
- Coles, Janice;
- Jackson, Claire L.;
- Barroso‐Gil, Miguel;
- Green, Ben;
- Walker, Woolf T.;
- Thomas, N. Simon;
- Thompson, James;
- Rock, Simon A.;
- Neatu, Ruxandra;
- Powell, Laura;
- Molinari, Elisa;
- Wilson, Ian J.;
- Cordell, Heather J.;
- Olinger, Eric;
- Miles, Colin G.;
- Sayer, John A.;
- Wheway, Gabrielle;
- Lucas, Jane S.
Publication type:
Article
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure.
Published in:
Annals of Human Genetics, 2024, v. 88, n. 1, p. 45, doi. 10.1111/ahg.12529
By:
- Basu, Basudha;
- Lake, Alice V. R.;
- China, Becky;
- Szymanska, Katarzyna;
- Wheway, Gabrielle;
- Bell, Sandra;
- Morrison, Ewan;
- Bond, Jacquelyn;
- Johnson, Colin A.
Publication type:
Article
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 7, p. 1358, doi. 10.1093/hmg/dds546
By:
- Abdelhamed, Zakia A.;
- Wheway, Gabrielle;
- Szymanska, Katarzyna;
- Natarajan, Subaashini;
- Toomes, Carmel;
- Inglehearn, Chris;
- Johnson, Colin A.
Publication type:
Article
A meckelin–filamin A interaction mediates ciliogenesis.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 6, p. 1272, doi. 10.1093/hmg/ddr557
By:
- Adams, Matthew;
- Simms, Roslyn J.;
- Abdelhamed, Zakia;
- Dawe, Helen R.;
- Szymanska, Katarzyna;
- Logan, Clare V.;
- Wheway, Gabrielle;
- Pitt, Eva;
- Gull, Keith;
- Knowles, Margaret A.;
- Blair, Edward;
- Cross, Sally H.;
- Sayer, John A.;
- Johnson, Colin A.
Publication type:
Article
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100 000 genomes project.
Published in:
2022
By:
- Best, Sunayna;
- Lord, Jenny;
- Roche, Matthew;
- Watson, Christopher;
- Poulter, James;
- Szymanska, Katarzyna;
- Ellingford, Jamie;
- Carmichael, Jenny;
- Brittain, Helen;
- Toomes, Carmel;
- Inglehearn, Chris;
- Johnson, Colin;
- Wheway, Gabrielle
Publication type:
Abstract
Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1009430
By:
- Nazlamova, Liliya;
- Vasquez, Suly Saray Villa;
- Lord, Jenny;
- Karthik, Varshini;
- Man-Kim Cheung;
- Lakowski, Jörn;
- Wheway, Gabrielle
Publication type:
Article
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-41940-5
By:
- Abdelhamed, Zakia A.;
- Abdelmottaleb, Dina I.;
- El-Asrag, Mohammed E.;
- Natarajan, Subaashini;
- Wheway, Gabrielle;
- Inglehearn, Chris F.;
- Toomes, Carmel;
- Johnson, Colin A.
Publication type:
Article
CiliaCarta: An integrated and validated compendium of ciliary genes.
Published in:
PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0216705
By:
- van Dam, Teunis J. P.;
- Kennedy, Julie;
- van der Lee, Robin;
- de Vrieze, Erik;
- Wunderlich, Kirsten A.;
- Rix, Suzanne;
- Dougherty, Gerard W.;
- Lambacher, Nils J.;
- Li, Chunmei;
- Jensen, Victor L.;
- Leroux, Michel R.;
- Hjeij, Rim;
- Horn, Nicola;
- Texier, Yves;
- Wissinger, Yasmin;
- van Reeuwijk, Jeroen;
- Wheway, Gabrielle;
- Knapp, Barbara;
- Scheel, Jan F.;
- Franco, Brunella
Publication type:
Article
Genomic programming of IRF4-expressing human Langerhans cells.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-14125-x
By:
- Sirvent, Sofia;
- Vallejo, Andres F.;
- Davies, James;
- Clayton, Kalum;
- Wu, Zhiguo;
- Woo, Jeongmin;
- Riddell, Jeremy;
- Chaudhri, Virendra K.;
- Stumpf, Patrick;
- Nazlamova, Liliya Angelova;
- Wheway, Gabrielle;
- Rose-Zerilli, Matthew;
- West, Jonathan;
- Pujato, Mario;
- Chen, Xiaoting;
- Woelk, Christopher H.;
- MacArthur, Ben;
- Ardern-Jones, Michael;
- Friedmann, Peter S.;
- Weirauch, Matthew T.
Publication type:
Article

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