Nigel F Clarke
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Explore the profile of Nigel F Clarke including associated specialties, affiliations and a list of published articles.
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67
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2277
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Recent Articles
1.
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...
2.
Oates E, Jones K, Donkervoort S, Charlton A, Brammah S, Smith 3rd J, et al.
Ann Neurol
. 2018 Apr;
83(6):1105-1124.
PMID: 29691892
Objective: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. Methods: Using massively parallel sequencing we identified 30 patients from 27 families with...
3.
Joureau B, de Winter J, Conijn S, Bogaards S, Kovacevic I, Kalganov A, et al.
Ann Neurol
. 2018 Jan;
83(2):269-282.
PMID: 29328520
Objective: Nemaline myopathy (NM) is one of the most common congenital nondystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of...
4.
Schofield D, Alam K, Douglas L, Shrestha R, MacArthur D, Davis M, et al.
NPJ Genom Med
. 2017 Nov;
2.
PMID: 29152331
Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing. High throughput or massively parallel sequencing is transforming...
5.
Mulroy E, Ghaoui R, Hutchinson D, Rodrigues M, Lek M, MacArthur D, et al.
Pract Neurol
. 2017 Apr;
17(4):327-331.
PMID: 28433973
No abstract available.
6.
Cummings B, Marshall J, Tukiainen T, Lek M, Donkervoort S, Foley A, et al.
Sci Transl Med
. 2017 Apr;
9(386).
PMID: 28424332
Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is...
7.
Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke N, Waddell L, et al.
J Neuromuscul Dis
. 2016 Nov;
3(2):209-225.
PMID: 27854218
Background: Molecular diagnostics in the genetic myopathies often requires testing of the largest and most complex transcript units in the human genome (DMD, TTN, NEB). Iteratively targeting single genes for...
8.
OGrady G, Best H, Sztal T, Schartner V, Sanjuan-Vazquez M, Donkervoort S, et al.
Am J Hum Genet
. 2016 Oct;
99(5):1086-1105.
PMID: 27745833
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal...
9.
OGrady G, Verschuuren C, Yuen M, Webster R, Menezes M, Fock J, et al.
Neurology
. 2016 Sep;
87(14):1442-1448.
PMID: 27590285
Objective: To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3. Methods: Individuals from 2 families were identified with biallelic variants in...
10.
Ghaoui R, Benavides T, Lek M, Waddell L, Kaur S, North K, et al.
Neuromuscul Disord
. 2016 Jun;
26(8):500-3.
PMID: 27342937
TorsinA-interacting protein 1 (TOR1AIP1) gene is a novel gene that has recently been described to cause limb-girdle muscular dystrophy (LGMD) with mild dilated cardiomyopathy. We report a family with mutations...