Richard C Caswell
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Explore the profile of Richard C Caswell including associated specialties, affiliations and a list of published articles.
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12
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196
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Recent Articles
1.
Li D, Mailand N, Ewing E, Hoffmann S, Caswell R, Pang L, et al.
JCI Insight
. 2025 Feb;
PMID: 39932783
Kenny-Caffey syndrome (KCS) is a rare genetic disorder characterized by extreme short stature, cortical thickening and medullary stenosis of tubular bones, facial dysmorphism, abnormal T-cell function, and hypoparathyroidism. Biallelic loss-of-function...
2.
Laver T, Wakeling M, Caswell R, Bunce B, Yau D, Mannisto J, et al.
Eur J Hum Genet
. 2024 Apr;
32(7):813-818.
PMID: 38605124
Persistent congenital hyperinsulinism (HI) is a rare genetically heterogeneous condition characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia. For up to 50% of affected individuals screening of the known...
3.
De Franco E, Owens N, Montaser H, Wakeling M, Saarimaki-Vire J, Triantou A, et al.
Nat Genet
. 2023 Nov;
55(12):2075-2081.
PMID: 37973953
Identifying genes linked to extreme phenotypes in humans has the potential to highlight biological processes not shared with all other mammals. Here, we report the identification of homozygous loss-of-function variants...
4.
Caswell R, Baptista J, Cairns L, Wilson K, Stewart H
Eur J Med Genet
. 2023 Apr;
66(6):104768.
PMID: 37059329
A de novo novel variant of uncertain significance p. (Arg532del) in the KLHL15 gene was identified by trio exome analysis in a child with global developmental delay, coarse facial features,...
5.
Caswell R, Gunning A, Owens M, Ellard S, Wright C
Genome Med
. 2022 Jul;
14(1):77.
PMID: 35869530
Background: The widespread clinical application of genome-wide sequencing has resulted in many new diagnoses for rare genetic conditions, but testing regularly identifies variants of uncertain significance (VUS). The remarkable rise...
6.
Wakeling E, McEntagart M, Bruccoleri M, Shaw-Smith C, Stals K, Wakeling M, et al.
HGG Adv
. 2021 Feb;
2(1):100015.
PMID: 33537682
Histone deacetylases play crucial roles in the regulation of chromatin structure and gene expression in the eukaryotic cell, and disruption of their activity causes a wide range of developmental disorders...
7.
Muir A, Gardner J, van Jaarsveld R, de Lange I, van der Smagt J, Wilson G, et al.
Genet Med
. 2021 Jan;
23(5):881-887.
PMID: 33473207
Purpose: Neurodevelopmental disorders (NDDs) encompass a spectrum of genetically heterogeneous disorders with features that commonly include developmental delay, intellectual disability, and autism spectrum disorders. We sought to delineate the molecular...
8.
Caswell R, Snowsill T, Houghton J, Chakera A, Shepherd M, Laver T, et al.
Clin Chem
. 2020 Jun;
66(7):958-965.
PMID: 32533152
Background: Babies of women with heterozygous pathogenic glucokinase (GCK) variants causing mild fasting hyperglycemia are at risk of macrosomia if they do not inherit the variant. Conversely, babies who inherit...
9.
Caswell R, Owens M, Gunning A, Ellard S, Wright C
J Endocr Soc
. 2019 Nov;
3(12):2258-2275.
PMID: 31737856
Despite the rapid expansion in recent years of databases reporting either benign or pathogenic genetic variations, the interpretation of novel missense variants remains challenging, particularly for clinical or genetic testing...
10.
Rautengarten C, Quarrell O, Stals K, Caswell R, De Franco E, Baple E, et al.
Hum Mol Genet
. 2019 Aug;
28(21):3543-3551.
PMID: 31423530
We report the case of a consanguineous couple who lost four pregnancies associated with skeletal dysplasia. Radiological examination of one fetus was inconclusive. Parental exome sequencing showed that both parents...