N Simon Thomas
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Explore the profile of N Simon Thomas including associated specialties, affiliations and a list of published articles.
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60
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Recent Articles
11.
Devlin L, Coles J, Jackson C, Barroso-Gil M, Green B, Walker W, et al.
Clin Genet
. 2022 Oct;
103(3):330-334.
PMID: 36273371
Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary ciliopathies are associated with multisystem syndromes typically affecting...
12.
Blakes A, Wai H, Davies I, Moledina H, Ruiz A, Thomas T, et al.
Genome Med
. 2022 Jul;
14(1):79.
PMID: 35883178
Background: Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical splice sites are difficult to interpret clinically. Improving...
13.
Lin S, Sanchez-Bretano A, Leslie J, Williams K, Lee H, Thomas N, et al.
NPJ Genom Med
. 2022 Jan;
7(1):2.
PMID: 35027574
Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the most common...
14.
Wheway G, Thomas N, Carroll M, Coles J, Doherty R, Goggin P, et al.
BMC Med Genomics
. 2021 Sep;
14(1):234.
PMID: 34556108
Background: It is estimated that 1-13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis have not been investigated...
15.
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham J, Chan L, et al.
J Endocr Soc
. 2021 Jul;
5(8):bvab086.
PMID: 34258490
Context: Although primary adrenal insufficiency (PAI) in children and young people is often due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur. The relative prevalence of these...
16.
Shoemark A, Rubbo B, Legendre M, Fassad M, Haarman E, Best S, et al.
Eur Respir J
. 2021 Jan;
58(2).
PMID: 33479112
Background: Primary ciliary dyskinesia (PCD) is a heterogeneous inherited disorder caused by mutations in approximately 50 cilia-related genes. PCD genotype-phenotype relationships have mostly arisen from small case series because existing...
17.
Nazlamova L, Thomas N, Cheung M, Legebeke J, Lord J, Pengelly R, et al.
Hum Genet
. 2020 Oct;
140(4):593-607.
PMID: 33095315
Ciliopathies are a broad range of inherited developmental and degenerative diseases associated with structural or functional defects in motile or primary non-motile cilia. There are around 200 known ciliopathy disease...
18.
Cross E, Duncan-Flavell P, Howarth R, Crooks R, Thomas N, Bunyan D
Eur J Med Genet
. 2020 May;
63(7):103940.
PMID: 32360764
Pathogenic variants within PAX6 are most often associated with aniridia, but have been linked with other phenotypes such as nystagmus, cataracts and foveal hypoplasia. Data are presented from a large...
19.
Wai H, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, et al.
Genet Med
. 2020 Apr;
22(6):1129.
PMID: 32235935
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
20.
Wai H, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, et al.
Genet Med
. 2020 Mar;
22(6):1005-1014.
PMID: 32123317
Purpose: Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. We examined...