Kyle S Yau
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Explore the profile of Kyle S Yau including associated specialties, affiliations and a list of published articles.
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9
Citations
474
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Recent Articles
1.
Beecroft S, Yau K, Allcock R, Mina K, Gooding R, Faiz F, et al.
Ann Clin Transl Neurol
. 2020 Mar;
7(3):353-362.
PMID: 32153140
Objective: To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center. Methods: We designed two iterations of a comprehensive targeted gene panel for neuromuscular...
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.
Todd E, Yau K, Ong R, Slee J, McGillivray G, Barnett C, et al.
Orphanet J Rare Dis
. 2015 Nov;
10:148.
PMID: 26578207
Background: Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups,...
4.
Agrawal P, Pierson C, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, et al.
Am J Hum Genet
. 2014 Aug;
95(2):218-26.
PMID: 25087613
Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most common severe form of CNM, is caused by mutations...
5.
Ong R, Alsaman A, Selcen D, Arabshahi A, Yau K, Ravenscroft G, et al.
J Neurol Neurosurg Psychiatry
. 2014 Mar;
85(9):1058-60.
PMID: 24610938
No abstract available.
6.
Gupta V, Ravenscroft G, Shaheen R, Todd E, Swanson L, Shiina M, et al.
Am J Hum Genet
. 2013 Nov;
93(6):1108-17.
PMID: 24268659
Nemaline myopathy (NM) is a rare congenital muscle disorder primarily affecting skeletal muscles that results in neonatal death in severe cases as a result of associated respiratory insufficiency. NM is...
7.
Ravenscroft G, Miyatake S, Lehtokari V, Todd E, Vornanen P, Yau K, et al.
Am J Hum Genet
. 2013 Jun;
93(1):6-18.
PMID: 23746549
Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a...
8.
Ravenscroft G, Thompson E, Todd E, Yau K, Kresoje N, Sivadorai P, et al.
Neuromuscul Disord
. 2012 Dec;
23(2):165-9.
PMID: 23218673
The clinically and genetically heterogenous foetal akinesias have low rates of genetic diagnosis. Exome sequencing of two siblings with phenotypic lethal multiple pterygium syndrome identified compound heterozygozity for a known...
9.
Sambuughin N, Yau K, Olive M, Duff R, Bayarsaikhan M, Lu S, et al.
Am J Hum Genet
. 2010 Nov;
87(6):842-7.
PMID: 21109227
We identified a member of the BTB/Kelch protein family that is mutated in nemaline myopathy type 6 (NEM6), an autosomal-dominant neuromuscular disorder characterized by the presence of nemaline rods and...