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Author/Creator Wheway, Gabrielle

1. Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome. Issue 3 (3rd November 2022)

Authors:
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, ...
Journal:
Clinical genetics
Issue:
Volume 103:Issue 3(2023)
Page Start:
330
Record Type:
Journal Article
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2. Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Issue 1 (December 2018)

Authors:
Buskin, Adriana; Zhu, Lili; Chichagova, Valeria; Basu, Basudha; Mozaffari-Jovin, Sina; Dolan, David; Droop, Alastair; Collin, Joseph; Bronstein, Revital; Mehrotra, Sudeep; Farkas, Michael; Hilgen, Gerrit; White, Kathryn; Pan, Kuan-Ting; Treumann, Achim; Hallam, Dean; Bialas, Katarzyna; Chung, Git...
Journal:
Nature communications
Issue:
Volume 9:Issue 1(2018)
Page Start:
1
Record Type:
Journal Article
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3. Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis. Issue 5 (17th November 2022)

Authors:
Shoemark, Amelia; Griffin, Helen; Wheway, Gabrielle; Hogg, Claire; Lucas, Jane S.; Camps, Carme; Taylor, Jenny; Carroll, Mary; Loebinger, Michael R.; Chalmers, James D.; Morris-Rosendahl, Deborah; Mitchison, Hannah M.; De Soyza, Anthony
Journal:
European respiratory journal
Issue:
Volume 60:Issue 5(2022)
Page Start:
Record Type:
Journal Article
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4. Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100, 000 Genomes Project. Issue 8 (29th October 2021)

Authors:
Best, Sunayna; Lord, Jenny; Roche, Matthew; Watson, Christopher M; Poulter, James A; Bevers, Roel P J; Stuckey, Alex; Szymanska, Katarzyna; Ellingford, Jamie M; Carmichael, Jenny; Brittain, Helen; Toomes, Carmel; Inglehearn, Chris; Johnson, Colin A; Wheway, Gabrielle
Other Names:
author non-byline.; Ambrose John C author non-byline.; Arumugam Prabhu author non-byline.; Bevers Roel author non-byline.; Bleda Marta author non-byline.; Boardman-Pretty Freya author non-byline.; Boustred Christopher R author non-byline.; Brittain Helen author non-byline.; Caulfield Mark J auth...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 8(2022)
Page Start:
737
Record Type:
Journal Article
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7. The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum. Issue 2 (17th April 2023)

Authors:
Rumman, Nisreen; Fassad, Mahmoud R.; Driessens, Corine; Goggin, Patricia; Abdelrahman, Nader; Adwan, Adel; Albakri, Mutaz; Chopra, Jagrati; Doherty, Regan; Fashho, Bishara; Freke, Grace M.; Hasaballah, Abdallah; Jackson, Claire L.; Mohamed, Mai A.; Abu Nema, Reda; Patel, Mitali P.; Pengelly, Reub...
Journal:
ERJ open research
Issue:
Volume 9:Issue 2(2023)
Page Start:
Record Type:
Journal Article
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8. Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Issue 12 (28th June 2022)

Authors:
Best, Sunayna; Yu, Jing; Lord, Jenny; Roche, Matthew; Watson, Christopher Mark; Bevers, Roel P J; Stuckey, Alex; Madhusudhan, Savita; Jewell, Rosalyn; Sisodiya, Sanjay M; Lin, Siying; Turner, Stephen; Robinson, Hannah; Leslie, Joseph S; Baple, Emma; Toomes, Carmel; Inglehearn, Chris; Wheway, Gabr...
Other Names:
author non-byline.; Ambrose JC author non-byline.; Arumugam P author non-byline.; Bevers R author non-byline.; Bleda M author non-byline.; Boardman-Pretty F author non-byline.; Boustred C R author non-byline.; Brittain H author non-byline.; Brown MA author non-byline.; Caulfield MJ author non-by...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 12(2022)
Page Start:
1151
Record Type:
Journal Article
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9. Unlocking the potential of the UK 100, 000 Genomes Project—lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort. Issue 1 (15th March 2022)

Authors:
Best, Sunayna; Inglehearn, Chris F.; Watson, Christopher M.; Toomes, Carmel; Wheway, Gabrielle; Johnson, Colin A.
Other Names:
Franco Brunella guestEditor.; Omran Heymut guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 190:Issue 1(2022)
Page Start:
5
Record Type:
Journal Article
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10. Vulnerability to acid reflux of the airway epithelium in severe asthma. Issue 2 (4th August 2022)

Authors:
Perotin, Jeanne-Marie; Wheway, Gabrielle; Tariq, Kamran; Azim, Adnan; Ridley, Robert A.; Ward, Jonathan A.; Schofield, James P.R.; Barber, Clair; Howarth, Peter; Davies, Donna E.; Djukanovic, Ratko
Journal:
European respiratory journal
Issue:
Volume 60:Issue 2(2022)
Page Start:
Record Type:
Journal Article
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