Adam M Bournazos
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Explore the profile of Adam M Bournazos including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
93
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Recent Articles
1.
Chung C, Bournazos A, Chan L, Sarkozy V, Lawson J, Kennedy S, et al.
Mol Genet Genomic Med
. 2024 Oct;
12(10):e70017.
PMID: 39352229
Methods: We describe the phenotypes in an Australian TSC NMI group (n = 18) and a molecular testing strategy implementable in a diagnostic laboratory. Massively parallel sequencing (MPS) of the...
2.
Venugopal P, Arts P, Fox L, Simons A, Hiwase D, Bardy P, et al.
Blood Adv
. 2024 Apr;
8(13):3437-3443.
PMID: 38662475
No abstract available.
3.
Van Bergen N, Gunanayagam K, Bournazos A, Walvekar A, Warmoes M, Semcesen L, et al.
Int J Mol Sci
. 2023 Feb;
24(4).
PMID: 36834994
We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical...
4.
Dawes R, Bournazos A, Bryen S, Bommireddipalli S, Marchant R, Joshi H, et al.
Nat Genet
. 2023 Feb;
55(2):324-332.
PMID: 36747048
Even for essential splice-site variants that are almost guaranteed to alter mRNA splicing, no current method can reliably predict whether exon-skipping, cryptic activation or multiple events will result, greatly complicating...
5.
Yasa J, Reed C, Bournazos A, Evesson F, Pang I, Graham M, et al.
Acta Neuropathol Commun
. 2023 Jan;
11(1):15.
PMID: 36653852
Dysferlin is a Ca-activated lipid binding protein implicated in muscle membrane repair. Recessive variants in DYSF result in dysferlinopathy, a progressive muscular dystrophy. We showed previously that calpain cleavage within...
6.
Bournazos A, Riley L, Bommireddipalli S, Ades L, Akesson L, Al-Shinnag M, et al.
Genet Med
. 2021 Dec;
24(1):130-145.
PMID: 34906502
Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based...
7.
Bryen S, Ewans L, Pinner J, MacLennan S, Donkervoort S, Castro D, et al.
Hum Mutat
. 2019 Oct;
41(2):403-411.
PMID: 31660661
We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (NM_001267550.1:c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. Muscle-derived RNA...
8.
Gardiner M, Bournazos A, Maturana-Martinez C, Zhong L, Egan S
Front Microbiol
. 2017 Jul;
8:1203.
PMID: 28706511
Climate fluctuations have been linked to an increased prevalence of disease in seaweeds, including the red alga , which is susceptible to a bleaching disease caused by the bacterium R11...