Browse by UCL people
Group by: Type | Date
Jump to: Article
Number of items: 20.
Article
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.
|
   |
|
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.
|
|
|
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.
|
|
|
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).
|
|
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.
|
|
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).
|
|
|
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.
|
|
|
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).
|
|
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.
|
|
|
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.
|
  |
|
Onoufriadis, A;
Shoemark, A;
Schmidts, M;
Patel, M;
Jimenez, G;
Liu, H;
Thomas, B;
... Mitchison, HM; + view all
(2014)
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central-pair agenesis due to radial spoke defects.
Hum Mol Genet
, 23
(13)
pp. 3362-3374.
10.1093/hmg/ddu046.
|
|
|
Ribes, Juan Manuel;
Patel, Mitali P;
Halim, Hazim A;
Berretta, Antonio;
Tooze, Sharon A;
Klöhn, Peter-Christian;
(2023)
Prion protein conversion at two distinct cellular sites precedes fibrillisation.
Nature Communications
, 14
, Article 8354. 10.1038/s41467-023-43961-1.
|
|
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.
|
|
|
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.
|
|
Shoemark, A;
Pinto, AL;
Patel, MP;
Daudvohra, F;
Hogg, C;
Mitchison, HM;
Burgoyne, T;
(2020)
PCD Detect: enhancing ciliary features through image averaging and classification.
American Journal of Physiology: Lung Cellular and Molecular Physiology
, 319
(6)
L1048-L1060.
10.1152/ajplung.00264.2020.
|
|
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.
|
|
Shoemark, A;
Burgoyne, T;
Kwan, R;
Dixon, M;
Patel, MP;
Rogers, AV;
Onoufriadis, A;
... Hogg, C; + view all
(2018)
Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.
European Respiratory Journal
, 51
(2)
, Article 1701809. 10.1183/13993003.01809-2017.
|
|
Shoemark, A;
Frost, E;
Dixon, M;
Ollosson, S;
Kilpin, K;
Patel, M;
Scully, J;
... Hogg, C; + view all
(2017)
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
American Journal of Respiratory and Critical Care Medicine
, 196
(1)
pp. 94-101.
10.1164/rccm.201607-1351OC.
|
|
|
Sironen, A;
Shoemark, A;
Patel, M;
Loebinger, MR;
Mitchison, HM;
(2019)
Sperm defects in primary ciliary dyskinesia and related causes of male infertility.
Cellular and Molecular Life Sciences
10.1007/s00018-019-03389-7.
(In press).
|
|
