Richard J Smith
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Explore the profile of Richard J Smith including associated specialties, affiliations and a list of published articles.
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144
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1829
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Recent Articles
1.
Tshering K, DiStefano M, Oza A, Ajuyah P, Webb R, Edoh E, et al.
Genet Med
. 2025 Feb;
:101392.
PMID: 39987489
Purpose: The ClinGen Hearing Loss Gene Curation Expert Panel (GCEP) was assembled in 2016 and has since curated 174 gene-disease relationships (GDRs) using ClinGen's semi-quantitative framework. ClinGen mandates timely recuration...
2.
Yao M, Fuentes-Dominguez R, Cavera 3rd S, Perez-Cota F, Smith R, Clark M
Photoacoustics
. 2024 Dec;
41:100663.
PMID: 39649108
In this paper, we demonstrate for the first time the focusing of gigahertz coherent phonon pulses propagating in water using picosecond ultrasonics and Brillouin light scattering. We achieve this by...
3.
Tish M, Voss N, Bertolli A, Klimara M, Smith R, Thedens D, et al.
eNeuro
. 2024 Nov;
11(11).
PMID: 39542734
Normal pressure hydrocephalus (NPH) is marked by enlarged cerebral ventricles with normal intracranial pressure, plus three stereotypical symptoms: gait impairment, cognitive dysfunction, and urinary frequency with urge incontinence. The neural...
4.
Smith R, Wood B
Evol Anthropol
. 2024 Jun;
33(5):e22041.
PMID: 38944755
Smith and Wood reply to Villmoare and Kimbel regarding the scientific credibility of problems in paleoanthropology that require causal explanations for unique historical events.
5.
Nester C, Decker D, Meier M, Aslam S, Bomback A, Caravaca-Fontan F, et al.
Clin J Am Soc Nephrol
. 2024 Jun;
PMID: 38829708
Randomized clinical trials are underway to evaluate the efficacy of novel agents targeting the alternative complement pathway in patients with C3 glomerulopathy (C3G), a rare glomerular disease. The Kidney Health...
6.
Ruiz M, Zhang X, Mansilla M, Zahr R, Thomas C, Smith R, et al.
Br J Haematol
. 2024 May;
205(1):316-319.
PMID: 38735682
The pathophysiology and genetic risk for sickle cell disease (SCD)-related chronic kidney disease (CKD) are not well understood. In 70 adults with SCD-related CKD and without APOL1 inherited in a...
7.
Cavera 3rd S, Chauhan V, Hardiman W, Yao M, Fuentes-Dominguez R, Setchfield K, et al.
Commun Biol
. 2024 Apr;
7(1):451.
PMID: 38622287
This report presents an optical fibre-based endo-microscopic imaging tool that simultaneously measures the topographic profile and 3D viscoelastic properties of biological specimens through the phenomenon of time-resolved Brillouin scattering. This...
8.
Che M, Moran S, Smith R, Ren K, Smith G, Shamseddin M, et al.
Kidney Int
. 2024 Feb;
105(5):960-970.
PMID: 38408703
Atypical hemolytic uremic syndrome is a complement-mediated thrombotic microangiopathy caused by uncontrolled activation of the alternative complement pathway in the setting of autoantibodies to or rare pathogenic genetic variants in...
9.
Perez-Cota F, Martinez-Arellano G, Cavera 3rd S, Hardiman W, Thornton L, Fuentes-Dominguez R, et al.
Sci Rep
. 2023 Sep;
13(1):16228.
PMID: 37758808
There is a consensus about the strong correlation between the elasticity of cells and tissue and their normal, dysplastic, and cancerous states. However, developments in cell mechanics have not seen...
10.
Corno A, Cordeiro M, Allan L, Lim Q, Harrington E, Smith R, et al.
EMBO J
. 2023 Sep;
42(20):e112630.
PMID: 37712330
Two major mechanisms safeguard genome stability during mitosis: the mitotic checkpoint delays mitosis until all chromosomes have attached to microtubules, and the kinetochore-microtubule error-correction pathway keeps this attachment process free...