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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1005
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Recent Articles
1.
Legebeke J, Wheway G, Baker L, Wai H, Walker W, Thomas N, et al.
Hum Mol Genet
. 2024 Nov;
34(2):148-160.
PMID: 39536325
Rare genetic respiratory disease has an incidence rate of more than 1:2500 live births in Northern Europe and carries significant disease burden. Early diagnosis improves outcomes, but many individuals remain...
2.
Watts L, Bunyan D, Giacopuzzi E, Walker S, Gazdagh G, Thomas N, et al.
Brain Commun
. 2024 Oct;
6(5):fcae330.
PMID: 39386087
No abstract available.
3.
Oquendo C, Wai H, Rich W, Bunyan D, Thomas N, Hunt D, et al.
Genome Med
. 2024 Sep;
16(1):110.
PMID: 39252027
Background: RNA sequencing (RNA-seq) is increasingly being used as a complementary tool to DNA sequencing in diagnostics where DNA analysis has been uninformative. RNA-seq enables the identification of aberrant splicing...
4.
Seaby E, Leggatt G, Cheng G, Thomas N, Ashton J, Stafford I, et al.
Genet Med
. 2024 Jan;
26(4):101073.
PMID: 38245859
Purpose: The 100,000 Genomes Project diagnosed a quarter of affected participants, but 26% of diagnoses were not on the applied gene panel(s); with many being de novo variants. Assessing biallelic...
5.
Seaby E, Thomas N, Hunt D, Baralle D, Rehm H, ODonnell-Luria A, et al.
Healthcare (Basel)
. 2023 Dec;
11(24).
PMID: 38132069
Genome sequencing is available as a clinical test in the UK through the Genomic Medicine Service (GMS). The GMS analytical strategy predominantly filters genome data on preselected gene panels. Whilst...
6.
Moore A, Yu J, Pei Y, Cheng E, Taylor Tavares A, Walker W, et al.
J Med Genet
. 2023 Aug;
60(12):1235-1244.
PMID: 37558402
Background: Current clinical testing methods used to uncover the genetic basis of rare disease have inherent limitations, which can lead to causative pathogenic variants being missed. Within the rare disease...
7.
Rumman N, Fassad M, Driessens C, Goggin P, Abdelrahman N, Adwan A, et al.
ERJ Open Res
. 2023 Apr;
9(2).
PMID: 37077557
Background: Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the Palestinian PCD population. Methods: Individuals...
8.
Seaby E, Leggatt G, Cheng G, Thomas N, Ashton J, Stafford I, et al.
medRxiv
. 2023 Apr;
PMID: 37034701
The 100,000 Genomes Project (100KGP) diagnosed a quarter of recruited affected participants, but 26% of diagnoses were in genes not on the chosen gene panel(s); with many being variants of...
9.
Seaby E, Thomas N, Hunt D, Baralle D, Rehm H, ODonnell-Luria A, et al.
medRxiv
. 2023 Feb;
PMID: 36778464
Genome sequencing is now available as a clinical test on the National Health Service (NHS) through the Genome Medicine Service (GMS). The GMS have set out an analytical strategy that...
10.
Seaby E, Thomas N, Webb A, Brittain H, Taylor Tavares A, Baralle D, et al.
Hum Genet
. 2022 Dec;
142(3):351-362.
PMID: 36477409
Background: Genome sequencing was first offered clinically in the UK through the 100,000 Genomes Project (100KGP). Analysis was restricted to predefined gene panels associated with the patient's phenotype. However, panels...