Frances J Evesson
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Explore the profile of Frances J Evesson including associated specialties, affiliations and a list of published articles.
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22
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422
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Recent Articles
1.
Coppens S, Deconinck N, Sullivan P, Smolnikov A, Clayton J, Griffin K, et al.
Ann Neurol
. 2025 Jan;
97(4):611-628.
PMID: 39853809
Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum. Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and...
2.
Nicolas-Martinez E, Robinson O, Pflueger C, Gardner A, Corbett M, Ritchie T, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1673-1699.
PMID: 39084224
Understanding the impact of splicing and nonsense variants on RNA is crucial for the resolution of variant classification as well as their suitability for precision medicine interventions. This is primarily...
3.
Zhang K, Joshi H, Marchant R, Bryen S, Dawes R, Yuen M, et al.
Eur J Hum Genet
. 2024 May;
32(8):972-979.
PMID: 38802528
Intronic deletions that critically shorten donor-to-branchpoint (D-BP) distance of a precursor mRNA impose biophysical space constraint on assembly of the U1/U2 spliceosomal complex, leading to canonical splicing failure. Here we...
4.
Marchant R, Bryen S, Bahlo M, Cairns A, Chao K, Corbett A, et al.
Ann Clin Transl Neurol
. 2024 Mar;
11(5):1250-1266.
PMID: 38544359
Objective: Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence-based recommendations...
5.
Evesson F, Dziaduch G, Bryen S, Moore F, Pittman S, Devanapalli B, et al.
Hum Mol Genet
. 2023 Mar;
32(12):2084-2092.
PMID: 36920481
Recessive variants in the oxidoreductase PYROXD1 are reported to cause a myopathy in 22 affected individuals from 15 families. Here, we describe two female probands from unrelated families presenting with...
6.
Bryen S, Zhang K, Dziaduch G, Bommireddipalli S, Naseri T, Reupena M, et al.
Clin Genet
. 2023 Feb;
103(5):553-559.
PMID: 36799557
EMC1 encodes subunit 1 of the endoplasmic reticulum (ER) membrane protein complex (EMC), a transmembrane domain insertase involved in membrane protein biosynthesis. Variants in EMC1 are described as a cause...
7.
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...
8.
Bryen S, Yuen M, Joshi H, Dawes R, Zhang K, Lu J, et al.
HGG Adv
. 2022 Jul;
3(4):100125.
PMID: 35847480
Predicting the pathogenicity of acceptor splice-site variants outside the essential AG is challenging, due to high sequence diversity of the extended splice-site region. Critical analysis of 24,445 intronic extended acceptor...
9.
Waddell L, Bryen S, Cummings B, Bournazos A, Evesson F, Joshi H, et al.
Neurol Genet
. 2021 May;
7(1):e554.
PMID: 33977140
Objective: To describe the diagnostic utility of whole-genome sequencing and RNA studies in boys with suspected dystrophinopathy, for whom multiplex ligation-dependent probe amplification and exomic parallel sequencing failed to yield...
10.
Bryen S, Oates E, Evesson F, Lu J, Waddell L, Joshi H, et al.
Eur J Hum Genet
. 2020 Aug;
29(1):61-66.
PMID: 32862205
X-linked myotubular myopathy (XLMTM) is a severe congenital myopathy characterised by generalised weakness and respiratory insufficiency. XLMTM is associated with pathogenic variants in MTM1; a gene encoding the lipid phosphatase...