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1

Investigation into the Importance of genes encoding ciliary..:

Hartill, V ; Logan, C ; Parry, DA...
Cilia. 4 (2015) S1 - p. , 2015

Link: https://doi.org/10.1186/..

2

A high-throughput genome-wide siRNA screen for ciliogenesis..:

Szymanska, K ; Wheway, G ; Doherty, D...
Cilia. 4 (2015) S1 - p. , 2015

Link: https://doi.org/10.1186/..

3

Novel SIX6 mutations cause recessively inherited congenital..:

Panagiotou, ES ; Fernandez-Fuentes, N ; Farraj, LA...
https://eprints.whiterose.ac.uk/187659/1/Mol%20Vis%202022%20SIX6_mv-v28-57.pdf. , 2022

Link: https://eprints.whiteros..

4

Signatures of TOP1 transcription-associated mutagenesis in ..:

Reijns, MAM ; Parry, DA ; Williams, TC...
Nature, 2022. , 2022

Link: https://repository.icr.a..

5

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neuro..:

Chai, G ; Webb, A ; Li, C...
https://eprints.whiterose.ac.uk/168429/1/Neuron_19_01905_R1.pdf. , 2021

Link: https://eprints.whiteros..

6

Heterozygous lamin B1 and lamin B2 variants cause primary m..:

Parry, DA ; Martin, C-A ; Greene, P...
Genet Med. , 2020

Link: https://qmro.qmul.ac.uk/..

7

An Agenda for Open Science in Communication:

Dienlin, T ; Johannes, N ; Bowman, ND...
https://eprints.whiterose.ac.uk/158440/1/jqz052.pdf. , 2020

Link: https://eprints.whiteros..

8

Heterozygous lamin B1 and lamin B2 variants cause primary m..:

Parry, DA ; Martin, CA ; Greene, P...
https://discovery.ucl.ac.uk/id/eprint/10113404/1/s41436-020-00980-3.pdf. , 2020

Link: https://discovery.ucl.ac..

9

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, C-A ; Sarlós, K ; Logan, CV...
https://discovery.ucl.ac.uk/id/eprint/10054306/1/Dattani_1-s2.0-S0002929718302283-main.pdf. , 2018

Link: https://discovery.ucl.ac..

10

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome wit..:

Logan, C ; Murray, JE ; Parry, DA...
issn:0002-9297. , 2018

Link: http://hdl.handle.net/11..

11

Targeted genetic analysis in a large cohort of familial and..:

Weerakkody, R ; Ross, D ; Parry, DA...
https://discovery.ucl.ac.uk/id/eprint/10047457/1/Vandrovcova_Targeted%20genetic%20analysis%20in%20a%20large%20cohort%20of%20familial%20and%20sporadic%20cases%20of%20aneurysm%20or%20dissection%20of%20the%20thoracic%20aorta_AAM.pdf. , 2018

Link: https://discovery.ucl.ac..

12

Mutations in GPAA1, Encoding a GPI Transamidase Complex Pro..:

Nguyen, TTM ; Murakami, Y ; Sheridan, E...
https://openaccess.sgul.ac.uk/id/eprint/109278/1/Mutations_in_GPAA1.pdf. , 2017

Link: https://openaccess.sgul...

13

Clinical and immunologic phenotype associated with activate..:

Elkaim, E ; Neven, B ; Bruneau, J...
info:eu-repo/semantics/altIdentifier/wos/WOS:000379659100023. , 2016

Link: http://hdl.handle.net/11..

14

Characterizing the morbid genome of ciliopathies:

Shaheen, R ; Szymanska, K ; Basu, B...
https://eprints.whiterose.ac.uk/110401/7/JohnsonCharacterizing%20the%20morbid%20genome.pdf. , 2016

Link: https://eprints.whiteros..

15

A homozygous STIM1 mutation impairs store-operated calcium ..:

Parry, DA ; Holmes, TD ; Gamper, N...
https://eprints.whiterose.ac.uk/92571/8/1-s2.0-S0091674915013688-main.pdf. , 2016

Link: https://eprints.whiteros..

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