Hildegard Nikki Hall
Overview
Explore the profile of Hildegard Nikki Hall including associated specialties, affiliations and a list of published articles.
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8
Citations
56
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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.
Hall H, Parry D, Halachev M, Williamson K, Donnelly K, Campos Parada J, et al.
J Med Genet
. 2023 Dec;
61(3):250-261.
PMID: 38050128
Background: Classic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea. >90% of...
3.
Hall H, Bengani H, Hufnagel R, Damante G, Ansari M, Marsh J, et al.
PLoS One
. 2022 Nov;
17(11):e0268149.
PMID: 36413568
Classical aniridia is a congenital and progressive panocular disorder almost exclusively caused by heterozygous loss-of-function variants at the PAX6 locus. We report nine individuals from five families with severe aniridia...
4.
Burgess F, Hall H, Megaw R
Asia Pac J Ophthalmol (Phila)
. 2022 Aug;
11(4):380-391.
PMID: 36041151
Genetic eye diseases, representing a wide spectrum of simple and complex conditions, are one of the leading causes of visual loss in children and working adults, and progress in the...
5.
Rowlands C, Taylor A, Rice G, Whiffin N, Hall H, Newman W, et al.
Am J Hum Genet
. 2022 Jan;
109(2):210-222.
PMID: 35065709
Variable levels of gene expression between tissues complicates the use of RNA sequencing of patient biosamples to delineate the impact of genomic variants. Here, we describe a gene- and tissue-specific...
6.
Hall H, Williamson K, Fitzpatrick D
Hum Genet
. 2018 Sep;
138(8-9):881-898.
PMID: 30242502
Absence of part or all of the iris, aniridia, is a feature of several genetically distinct conditions. This review focuses on iris development and then the clinical features and molecular...
7.
Timlin H, Hall H, Foot B, Koay P
Br J Ophthalmol
. 2017 Dec;
102(9):1298-1302.
PMID: 29246891
Background/aims: This study quantifies the threat to vision and the survival in patients presenting with peripheral ulcerative keratopathy (PUK) corneal perforation associated with rheumatoid arthritis (RA) in the UK. Methods:...
8.