Browse by UCL people
Group by: Type | Date
Number of items: 18.
2024
Dodd, Daniel O;
Mechaussier, Sabrina;
Yeyati, Patricia L;
McPhie, Fraser;
Anderson, Jacob R;
Khoo, Chen Jing;
Shoemark, Amelia;
... Mill, Pleasantine; + view all
(2024)
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Science
, 384
(6694)
, Article eadf5489. 10.1126/science.adf5489.
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2023
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Rumman, Nisreen;
Fassad, Mahmoud R;
Driessens, Corine;
Goggin, Patricia;
Abdelrahman, Nader;
Adwan, Adel;
Albakri, Mutaz;
... Lucas, Jane S; + view all
(2023)
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic, and genetic spectrum.
ERJ Open Research
, 9
00714-2022.
10.1183/23120541.00714-2022.
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Wilson, Lindsay A;
Macken, William L;
Perry, Luke D;
Record, Christopher J;
Schon, Katherine R;
Frezatti, Rodrigo SS;
Raga, Sharika;
... Hanna, Michael G; + view all
(2023)
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain
, Article awad254. 10.1093/brain/awad254.
(In press).
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2022
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Schultz, Ruediger;
Elenius, Varpu;
Fassad, Mahmoud R;
Freke, Grace;
Rogers, Andrew;
Shoemark, Amelia;
Koistinen, Tiina;
... Sironen, Anu I; + view all
(2022)
CFAP300 mutation causing primary ciliary dyskinesia in Finland.
Frontiers in Genetics
, 13
, Article 985227. 10.3389/fgene.2022.985227.
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2021
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Lee, DDH;
Cardinale, D;
Nigro, E;
Butler, CR;
Rutman, A;
Fassad, MR;
Hirst, RA;
... O'Callaghan, C; + view all
(2021)
Higher throughput drug screening for rare respiratory diseases: Readthrough therapy in primary ciliary dyskinesia.
European Respiratory Journal
10.1183/13993003.00455-2020.
(In press).
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Shoemark, A;
Rubbo, B;
Legendre, M;
Fassad, MR;
Haarman, EG;
Best, S;
Bon, ICM;
... Lucas, JS; + view all
(2021)
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
European Respiratory Journal
, 58
(2)
, Article 2002359. 10.1183/13993003.02359-2020.
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2020
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Fassad, MR;
Shoman, WI;
Morsy, H;
Patel, MP;
Radwan, N;
Jenkins, L;
Cullup, T;
... Fasseeh, N; + view all
(2020)
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.
Clinical Genetics
, 97
(3)
pp. 509-515.
10.1111/cge.13661.
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Robson, EA;
Dixon, L;
Causon, L;
Dawes, W;
Benenati, M;
Fassad, M;
Hirst, RA;
... O'Callaghan, C; + view all
(2020)
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.
Neurology: Genetics
, 6
(4)
, Article e482. 10.1212/NXG.0000000000000482.
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2019
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Mitchison, H;
(2019)
Clinical utility of NGS diagnosis and disease stratification in a multi-ethnic primary ciliary dyskinesia cohort.
Journal of Medical Genetics
10.1136/jmedgenet-2019-106501.
(In press).
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2018
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Best, S;
Shoemark, A;
Rubbo, B;
Patel, MP;
Fassad, MR;
Dixon, M;
Rogers, AV;
... Hogg, C; + view all
(2018)
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.
Thorax
, 74
(2)
10.1136/thoraxjnl-2018-212104.
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Farley, H;
Rubbo, B;
Bukowy-Bieryllo, Z;
Fassad, M;
Goutaki, M;
Harman, K;
Hogg, C;
... Marthin, JK; + view all
(2018)
Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School.
In:
Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School.
BMC (BioMed Central): London, UK.
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Fassad, Mahmoud Raafat;
(2018)
Novel Gene Discovery in Primary Ciliary Dyskinesia.
Doctoral thesis (Ph.D), UCL (University College London).
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Fassad, MR;
Shoemark, A;
le Borgne, P;
Koll, F;
Patel, M;
Dixon, M;
Hayward, J;
... Mitchison, HM; + view all
(2018)
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
The American Journal of Human Genetics
, 102
(5)
pp. 956-972.
10.1016/j.ajhg.2018.03.024.
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Fassad, MR;
Shoemark, A;
Legendre, M;
Hirst, RA;
Koll, F;
le Borgne, P;
Louis, B;
... Mitchison, HM; + view all
(2018)
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
The American Journal of Human Genetics
10.1016/j.ajhg.2018.10.016.
(In press).
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Irving, S;
Dixon, M;
Fassad, MR;
Frost, E;
Hayward, J;
Kilpin, K;
Ollosson, S;
... Bush, A; + view all
(2018)
Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index.
Lung
, 196
(2)
pp. 231-238.
10.1007/s00408-018-0086-x.
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2017
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Daudvohra, F;
Fassad, MR;
Dixon, M;
Burgoyne, T;
Rogers, AV;
Loebinger, MR;
Hogg, C;
... Shoemark, A; + view all
(2017)
Genetic and structural characterisation of outer dynein arm variants causing primary ciliary dyskinesia.
In:
(Proceedings) Winter Meeting of the British-Thoracic-Society.
(pp. A44-A44).
BMJ PUBLISHING GROUP
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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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