Alexander Stuckey
Overview
Explore the profile of Alexander Stuckey including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
71
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0
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Recent Articles
1.
Sadeghi-Alavijeh O, Chan M, Doctor G, Voinescu C, Stuckey A, Kousathanas A, et al.
J Clin Invest
. 2024 Aug;
134(19).
PMID: 39190485
BACKGROUNDCystic kidney disease (CyKD) is a predominantly familial disease in which gene discovery has been led by family-based and candidate gene studies, an approach that is susceptible to ascertainment and...
2.
Chan M, Sadeghi-Alavijeh O, Lopes F, Hilger A, Stanescu H, Voinescu C, et al.
Elife
. 2022 Sep;
11.
PMID: 36124557
Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based genome-wide association...
3.
Kvastad L, Carlberg K, Larsson L, Villacampa E, Stuckey A, Stenbeck L, et al.
Commun Biol
. 2021 Jan;
4(1):57.
PMID: 33420318
The RNA integrity number (RIN) is a frequently used quality metric to assess the completeness of rRNA, as a proxy for the corresponding mRNA in a tissue. Current methods operate...
4.
Leong I, Stuckey A, Belluoccio D, Fan V, Skinner J, Prosser D, et al.
Med Sci (Basel)
. 2017 Nov;
5(4).
PMID: 29099038
Sudden cardiac death (SCD) in people before the age of 35 years is a devastating event for any family. The causes of SCD in the young can be broadly divided...
5.
Leong I, Stuckey A, Ahanian T, Cederlof M, Wikstrom J
PLoS One
. 2017 Oct;
12(10):e0186356.
PMID: 29028823
Darier disease is a rare and severe autosomal dominant skin disease characterised by malodorous keratotic papules in seborrheic areas of the skin. Darier disease affects up to 1 in 30...
6.
Leong I, Stuckey A, Lai D, Skinner J, Love D
BMC Med Genet
. 2015 May;
16:34.
PMID: 25967940
Background: Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity. Establishing genetic...