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1.
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
Am J Hum Genet
; 109(7): 1217-1241, 2022 07 07.
Article
in English
| MEDLINE | ID: mdl-35675825
2.
Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure.
Ann Hum Genet
; 88(1): 45-57, 2024 01.
Article
in English
| MEDLINE | ID: mdl-37771269
3.
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Clin Genet
; 103(3): 330-334, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36273371
4.
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
J Med Genet
; 59(8): 737-747, 2022 08.
Article
in English
| MEDLINE | ID: mdl-34716235
5.
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
J Med Genet
; 59(12): 1151-1164, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35764379
6.
Vulnerability to acid reflux of the airway epithelium in severe asthma.
Eur Respir J
; 60(2)2022 08.
Article
in English
| MEDLINE | ID: mdl-34996831
7.
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Eur Respir J
; 60(5)2022 11.
Article
in English
| MEDLINE | ID: mdl-35728977
8.
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Hum Genet
; 140(4): 593-607, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33095315
9.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Genet Med
; 22(12): 2041-2051, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32753734
10.
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Exp Eye Res
; 192: 107950, 2020 03.
Article
in English
| MEDLINE | ID: mdl-32014492
11.
Development and biological evaluation of fluorophosphonate-modified hydroxyapatite for orthopaedic applications.
J Mater Sci Mater Med
; 29(8): 122, 2018 Jul 21.
Article
in English
| MEDLINE | ID: mdl-30032456
12.
Unlocking the potential of the UK 100,000 Genomes Project-lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort.
Am J Med Genet C Semin Med Genet
; 190(1): 5-8, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35289502
13.
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.
J Cell Sci
; 128(24): 4550-9, 2015 Dec 15.
Article
in English
| MEDLINE | ID: mdl-26546361
14.
ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis.
Development
; 141(20): 3966-77, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25294941
15.
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.
Hum Mol Genet
; 22(7): 1358-72, 2013 Apr 01.
Article
in English
| MEDLINE | ID: mdl-23283079
16.
Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.
Dev Biol
; 377(1): 55-66, 2013 May 01.
Article
in English
| MEDLINE | ID: mdl-23454480
17.
A meckelin-filamin A interaction mediates ciliogenesis.
Hum Mol Genet
; 21(6): 1272-86, 2012 Mar 15.
Article
in English
| MEDLINE | ID: mdl-22121117
18.
Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies.
Exp Cell Res
; 319(3): 161-72, 2013 Feb 01.
Article
in English
| MEDLINE | ID: mdl-23059369
19.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Science
; 384(6694): eadf5489, 2024 Apr 26.
Article
in English
| MEDLINE | ID: mdl-38662826
20.
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
ERJ Open Res
; 9(2)2023 Mar.
Article
in English
| MEDLINE | ID: mdl-37077557