661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies

by Gabrielle Wheway, Gabrielle Wheway, Gabrielle Wheway, Liliya Nazlamova, Liliya Nazlamova, Liliya Nazlamova, Dann Turner, Stephen Cross
Published 2019-04-01

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

by Gabrielle Wheway, Hannah M. Mitchison
Published 2019-03-01

Signaling through the Primary Cilium

by Gabrielle Wheway, Liliya Nazlamova, John T. Hancock
Published 2018-02-01

Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

by Gabrielle Wheway, Hannah M. Mitchison, Genomics England Research Consortium
Published 2019-08-01

A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa

by Gabrielle Wheway, Liliya Nazlamova, Nervine Meshad, Samantha Hunt, Nicola Jackson, Amanda Churchill
Published 2019-03-01

Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

by Verity Hartill, Verity Hartill, Katarzyna Szymanska, Saghira Malik Sharif, Gabrielle Wheway, Colin A. Johnson
Published 2017-11-01

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

by Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, Christopher F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger
Published 2015-06-01

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

by Gabrielle Wheway, N. Simon Thomas, Mary Carroll, Janice Coles, Regan Doherty, Genomics England Research Consortium, Patricia Goggin, Ben Green, Amanda Harris, David Hunt, Claire L. Jackson, Jenny Lord, Vito Mennella, James Thompson, Woolf T. Walker, Jane S. Lucas
Published 2021-09-01

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

by William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, Diana Baralle
Published 2021-02-01

Genomic programming of IRF4-expressing human Langerhans cells

by Sofia Sirvent, Andres F. Vallejo, James Davies, Kalum Clayton, Zhiguo Wu, Jeongmin Woo, Jeremy Riddell, Virendra K. Chaudhri, Patrick Stumpf, Liliya Angelova Nazlamova, Gabrielle Wheway, Matthew Rose-Zerilli, Jonathan West, Mario Pujato, Xiaoting Chen, Christopher H. Woelk, Ben MacArthur, Michael Ardern-Jones, Peter S. Friedmann, Matthew T. Weirauch, Harinder Singh, Marta E. Polak
Published 2020-01-01

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

by Adriana Buskin, Lili Zhu, Valeria Chichagova, Basudha Basu, Sina Mozaffari-Jovin, David Dolan, Alastair Droop, Joseph Collin, Revital Bronstein, Sudeep Mehrotra, Michael Farkas, Gerrit Hilgen, Kathryn White, Kuan-Ting Pan, Achim Treumann, Dean Hallam, Katarzyna Bialas, Git Chung, Carla Mellough, Yuchun Ding, Natalio Krasnogor, Stefan Przyborski, Simon Zwolinski, Jumana Al-Aama, Sameer Alharthi, Yaobo Xu, Gabrielle Wheway, Katarzyna Szymanska, Martin McKibbin, Chris F. Inglehearn, David J. Elliott, Susan Lindsay, Robin R. Ali, David H. Steel, Lyle Armstrong, Evelyne Sernagor, Henning Urlaub, Eric Pierce, Reinhard Lührmann, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Majlinda Lako
Published 2018-10-01

CiliaCarta: An integrated and validated compendium of ciliary genes.

by Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen
Published 2019-01-01