Marco L Leung
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Explore the profile of Marco L Leung including associated specialties, affiliations and a list of published articles.
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32
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1209
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Recent Articles
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Akkari Y, Dobin S, Best R, Leung M
Genet Med Open
. 2024 Dec;
1(1):100806.
PMID: 39669260
Purpose: Workforce shortages are observed in many sectors of the economy, including clinical genomics laboratories. Although medical technologists are essential for the primary functions of laboratory operations and many institutions...
3.
Seaby E, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, et al.
Brain
. 2024 Oct;
PMID: 39405200
DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we compiled a case-series of 11 patients with neurodevelopmental phenotypes...
4.
Deignan J, Aggarwal V, Bale A, Bellissimo D, Booker J, Cao Y, et al.
Genet Med Open
. 2024 Aug;
2.
PMID: 39175871
Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and...
5.
Su X, Chakravarti D, Cho M, Liu L, Gi Y, Lin Y, et al.
Nature
. 2024 Jul;
632(8024):E2.
PMID: 39030431
No abstract available.
6.
Leung M, Abdullaev Z, Santana-Santos L, Skaugen J, Moore S, Ji J
J Mol Diagn
. 2024 Feb;
26(6):447-455.
PMID: 38378079
Microarray-based methylation profiling has emerged as a valuable tool for refining diagnoses and revealing novel tumor subtypes, particularly in central nervous system tumors. Despite the increasing adoption of this technique...
7.
Gurusamy U, Ramadesikan S, Marhabaie M, Colwell C, Hunter J, Leung M, et al.
Front Genet
. 2024 Feb;
14:1298574.
PMID: 38304066
Leigh syndrome is a rare, genetic, and severe mitochondrial disorder characterized by neuromuscular issues (ataxia, seizure, hypotonia, developmental delay, dystonia) and ocular abnormalities (nystagmus, atrophy, strabismus, ptosis). It is caused...
8.
Olayiwola J, Marhabaie M, Koboldt D, Matthews T, Siemon A, Mouhlas D, et al.
Mol Genet Genomic Med
. 2024 Jan;
12(3):e2349.
PMID: 38263869
Background: Chromosomal microarray (CMA) is commonly utilized in the obstetrics setting. CMA is recommended when one or more fetal structural abnormalities is identified. CMA is also commonly used to determine...
9.
Mathew M, Babcock M, Hou Y, Hunter J, Leung M, Mei H, et al.
J Appl Lab Med
. 2024 Jan;
9(1):61-75.
PMID: 38167757
Background: Throughout history, the field of cytogenetics has witnessed significant changes due to the constant evolution of technologies used to assess chromosome number and structure. Similar to the evolution of...
10.