Simon J McGowan
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Explore the profile of Simon J McGowan including associated specialties, affiliations and a list of published articles.
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49
Citations
2127
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Recent Articles
1.
Maroofian R, Pagnamenta A, Navabazam A, Schwessinger R, Roberts H, Lopopolo M, et al.
HGG Adv
. 2024 Sep;
5(4):100352.
PMID: 39257002
The aim of this work was to identify the underlying genetic cause in a four-generation family segregating an unusual phenotype comprising a severe form of skeletal Class II malocclusion with...
2.
Miller K, Cruz Walma D, Pinkas D, Tooze R, Bufton J, Richardson W, et al.
J Med Genet
. 2024 Jan;
61(5):490-501.
PMID: 38296633
Introduction: encodes an oligomeric BTB domain protein reported to inhibit neural crest formation through repression of Wnt/beta-catenin signalling, as well as transactivation by TFAP2. Heterozygous missense variants in the closely...
3.
Sprumont A, Rodrigues A, McGowan S, Bannard C, Bannard O
Cell
. 2023 Nov;
186(25):5486-5499.e13.
PMID: 37951212
Germinal centers (GCs) form in lymph nodes after immunization or infection to facilitate antibody affinity maturation and memory and plasma cell (PC) development. PC differentiation is thought to involve stringent...
4.
Pagnamenta A, Camps C, Giacopuzzi E, Taylor J, Hashim M, Calpena E, et al.
Genome Med
. 2023 Nov;
15(1):94.
PMID: 37946251
Background: Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting,...
5.
Tooze R, Miller K, Swagemakers S, Calpena E, McGowan S, Boute O, et al.
Genet Med
. 2023 May;
25(9):100883.
PMID: 37154149
Purpose: Studies have previously implicated PRRX1 in craniofacial development, including demonstration of murine Prrx1 expression in the preosteogenic cells of the cranial sutures. We investigated the role of heterozygous missense...
6.
Calpena E, McGowan S, Kelly F, Boudry-Labis E, Dieux-Coeslier A, Harrison R, et al.
Hum Mutat
. 2021 May;
42(7):811-817.
PMID: 33993607
Heterozygous intragenic loss-of-function mutations of ERF, encoding an ETS transcription factor, were previously reported to cause a novel craniosynostosis syndrome, suggesting that ERF is haploinsufficient. We describe six families harboring...
7.
Calpena E, Wurmser M, McGowan S, Atique R, Bertola D, Cunningham M, et al.
J Med Genet
. 2021 Jan;
59(2):165-169.
PMID: 33436522
Background: Pathogenic heterozygous variants (predominantly missense) occur in branchio-otic syndrome (BOS), but an association with craniosynostosis has not been reported. Methods: We investigated probands with craniosynostosis of unknown cause using...
8.
Todd S, Todd P, McGowan S, Hughes J, Kakui Y, Leymarie F, et al.
Bioinformatics
. 2020 Sep;
37(7):951-955.
PMID: 32866221
Motivation: The 3D structure of chromatin in the nucleus is important for gene expression and regulation. Chromosome conformation capture techniques, such as Hi-C, generate large amounts of data showing interaction...
9.
Calpena E, Cuellar A, Bala K, Swagemakers S, Koelling N, McGowan S, et al.
Genet Med
. 2020 Jul;
22(9):1567.
PMID: 32636483
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
10.
Calpena E, Cuellar A, Bala K, Swagemakers S, Koelling N, McGowan S, et al.
Genet Med
. 2020 Jun;
22(9):1498-1506.
PMID: 32499606
Purpose: Enrichment of heterozygous missense and truncating SMAD6 variants was previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of SMAD6 variants with a common polymorphism nearBMP2 (rs1884302) was...