Leung ML - Search Results

1

A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening.

Leung ML, McAdoo S, Watson D, Stumm K, Harr M, Wang X, Chung CH, Mafra F, Nesbitt AI, Hakonarson H, Santani A. Leung ML, et al. J Mol Diagn. 2021 Jan;23(1):91-102. doi: 10.1016/j.jmoldx.2020.10.009. J Mol Diagn. 2021. PMID: 33349347 Free article.

2

Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.

Leung ML, Watson DJ, Vaccaro CN, Mafra F, Wenocur A, Wang T, Hakonarson H, Santani A. Leung ML, et al. Sci Data. 2020 Jan 8;7(1):8. doi: 10.1038/s41597-019-0339-4. Sci Data. 2020. PMID: 31913291 Free PMC article.

3

Clinical Exome Reanalysis: Current Practice and Beyond.

Ji J, Leung ML, Baker S, Deignan JL, Santani A. Ji J, et al. Among authors: leung ml. Mol Diagn Ther. 2021 Sep;25(5):529-536. doi: 10.1007/s40291-021-00541-7. Epub 2021 Jul 20. Mol Diagn Ther. 2021. PMID: 34283395 Free PMC article. Review.

4

A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute.

Leung ML, Ji J, Baker S, Buchan JG, Sivakumaran TA, Krock BL, Hutchins R, Bayrak-Toydemir P, Pfeifer J, Cremona ML, Funke B, Santani AB. Leung ML, et al. J Mol Diagn. 2022 Feb;24(2):177-188. doi: 10.1016/j.jmoldx.2021.11.004. J Mol Diagn. 2022. PMID: 35074075 Free article.

5

Microarray-Based DNA Methylation Profiling: Validation Considerations for Clinical Testing.

Leung ML, Abdullaev Z, Santana-Santos L, Skaugen JM, Moore S, Ji J. Leung ML, et al. J Mol Diagn. 2024 Feb 18:S1525-1578(24)00034-5. doi: 10.1016/j.jmoldx.2024.02.001. Online ahead of print. J Mol Diagn. 2024. PMID: 38378079 Free article.

6

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review.

Gurusamy U, Ramadesikan S, Marhabaie M, Colwell CM, Hunter JM, Leung ML, Mardis ER, White P, Manickam M, Wilson RK, Koboldt DC. Gurusamy U, et al. Among authors: leung ml. Front Genet. 2024 Jan 18;14:1298574. doi: 10.3389/fgene.2023.1298574. eCollection 2023. Front Genet. 2024. PMID: 38304066 Free PMC article.

7

Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.

Meyer AP, Ma J, Brock G, Hashimoto S, Cottrell CE, Mathew M, Hunter JM, Leung ML, Corsmeier D, Jayaraman V, Waldrop MA, Flanigan KM. Meyer AP, et al. Among authors: leung ml. Muscle Nerve. 2023 Nov;68(6):833-840. doi: 10.1002/mus.27976. Epub 2023 Oct 3. Muscle Nerve. 2023. PMID: 37789688

8

Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.

Olayiwola JO, Marhabaie M, Koboldt D, Matthews T, Siemon A, Mouhlas D, Porter T, Kyle G, Myers C, Mei H, Hou YC, Babcock M, Hunter J, Schieffer KM, Akkari Y, Reshmi S, Cottrell C, Mathew MT, Leung ML. Olayiwola JO, et al. Among authors: leung ml. Mol Genet Genomic Med. 2024 Mar;12(3):e2349. doi: 10.1002/mgg3.2349. Epub 2024 Jan 23. Mol Genet Genomic Med. 2024. PMID: 38263869 Free PMC article. Review.

9

Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.

Hall B, Milligan JN, Kelnar K, Hallmark E, Ashton JD, Parker CA, Filipovic-Sadic S, Sharp A, Eagle S, Rodgers N, Leung M, Mathew MT, Grissom L, Post R, Teran N, Latham GJ. Hall B, et al. Arch Pathol Lab Med. 2024 Jan 8. doi: 10.5858/arpa.2023-0230-OA. Online ahead of print. Arch Pathol Lab Med. 2024. PMID: 38190268 Free article.

10

Enhancing the didactic learning experience for Laboratory Genetics and Genomics fellows through a multi-institutional lecture series.

Leung ML, Cottrell CE. Leung ML, et al. J Genet Couns. 2023 Dec;32(6):1213-1216. doi: 10.1002/jgc4.1765. Epub 2023 Aug 12. J Genet Couns. 2023. PMID: 37571913

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