Liusaidh J Owen
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Explore the profile of Liusaidh J Owen including associated specialties, affiliations and a list of published articles.
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4
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34
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Recent Articles
1.
McDonnell A, Plech M, Livesey B, Gerasimavicius L, Owen L, Hall H, et al.
Mol Syst Biol
. 2024 Jun;
20(7):825-844.
PMID: 38849565
Nonsense and missense mutations in the transcription factor PAX6 cause a wide range of eye development defects, including aniridia, microphthalmia and coloboma. To understand how changes of PAX6:DNA binding cause...
2.
Owen L, Rainger J, Bengani H, Kilanowski F, Fitzpatrick D, Papanastasiou A
Development
. 2023 Jun;
150(15).
PMID: 37306293
Specification of the eye field (EF) within the neural plate marks the earliest detectable stage of eye development. Experimental evidence, primarily from non-mammalian model systems, indicates that the stable formation...
3.
Bengani H, Grozeva D, Moyon L, Bhatia S, Louros S, Hope J, et al.
PLoS One
. 2021 Aug;
16(8):e0256181.
PMID: 34388204
Identifying causative variants in cis-regulatory elements (CRE) in neurodevelopmental disorders has proven challenging. We have used in vivo functional analyses to categorize rigorously filtered CRE variants in a clinical cohort...
4.
Williamson K, Hall H, Owen L, Livesey B, Hanson I, Adams G, et al.
Genet Med
. 2019 Nov;
22(3):598-609.
PMID: 31700164
Purpose: Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by altering...