Simon Holden
Overview
Explore the profile of Simon Holden including associated specialties, affiliations and a list of published articles.
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Articles
31
Citations
777
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Recent Articles
1.
Holden S, Barker A, Babar J, Karia S, Gupta N, Sinharay R, et al.
ERJ Open Res
. 2024 Oct;
10(5).
PMID: 39351381
https://bit.ly/3ycAeCs.
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.
Rots D, Jakub T, Keung C, Jackson A, Banka S, Pfundt R, et al.
Am J Hum Genet
. 2023 May;
110(6):963-978.
PMID: 37196654
De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but because every monogenic NDD is different and usually extremely rare, it remains a major challenge to understand the...
4.
Jackson A, Lin S, Jones E, Chandler K, Orr D, Moss C, et al.
HGG Adv
. 2023 Apr;
4(2):100186.
PMID: 37009414
variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying mechanisms of ARED14 are poorly understood. Combining...
5.
Prapa M, Lago-Docampo M, Swietlik E, Montani D, Eyries M, Humbert M, et al.
Am J Respir Crit Care Med
. 2022 Jul;
206(12):1522-1533.
PMID: 35852389
Despite the increased recognition of (T-BOX transcription factor 4)-associated pulmonary arterial hypertension (PAH), genotype-phenotype associations are lacking and may provide important insights. To compile and functionally characterize all variants reported...
6.
Rumney B, Tegwen Malik F, Morgan S, Parker A, Holden S, Albon J, et al.
Mar Biol
. 2022 Feb;
169(3):35.
PMID: 35221378
Supplementary Information: The online version contains supplementary material available at 10.1007/s00227-021-04006-7.
7.
Lepelley A, Mina E, Van Nieuwenhove E, Waumans L, Fraitag S, Rice G, et al.
J Exp Med
. 2021 Aug;
218(10).
PMID: 34387651
Mitochondrial DNA (mtDNA) has been suggested to drive immune system activation, but the induction of interferon signaling by mtDNA has not been demonstrated in a Mendelian mitochondrial disease. We initially...
8.
Grimes H, Holden S, Babar J, Karia S, Ta Wetscherek M, Barker A, et al.
Thorax
. 2021 Jun;
77(2):196-198.
PMID: 34145047
Familial spontaneous pneumothorax (FSP) accounts for 10% of primary spontaneous pneumothoraces. Appropriate investigation of FSP enables early diagnosis of serious monogenic diseases and the practice of precision medicine. Here, we...
9.
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation
Cairns L, Rankin J, Hamad A, Cooper N, Merrifield K, Jain V, et al.
J Med Genet
. 2021 May;
59(6):544-548.
PMID: 33963046
Introduction: Motor neuron disease (MND) and frontotemporal dementia (FTD) comprise a neurodegenerative disease spectrum. Genetic testing and counselling is complex in MND/FTD owing to incomplete penetrance, variable phenotype and variants...
10.
Parker A, Palka B, Albon J, Meek K, Holden S, Tegwen Malik F
Nanomaterials (Basel)
. 2021 Apr;
11(3).
PMID: 33800395
In this study we mimic the unique, transparent protective carapace (shell) of myodocopid ostracods, through which their compound eyes see, to demonstrate that the carapace ultrastructure also provides functions of...