Shen L - Search Results

1

Increased viral variants in children and young adults with impaired humoral immunity and persistent SARS-CoV-2 infection: A consecutive case series.

Truong TT, Ryutov A, Pandey U, Yee R, Goldberg L, Bhojwani D, Aguayo-Hiraldo P, Pinsky BA, Pekosz A, Shen L, Boyd SD, Wirz OF, Röltgen K, Bootwalla M, Maglinte DT, Ostrow D, Ruble D, Han JH, Biegel JA, Li M, Huang C, Sahoo MK, Pannaraj PS, O'Gorman M, Judkins AR, Gai X, Dien Bard J. Truong TT, et al. Among authors: shen l. EBioMedicine. 2021 May;67:103355. doi: 10.1016/j.ebiom.2021.103355. Epub 2021 Apr 26. EBioMedicine. 2021. PMID: 33915337 Free PMC article.

2

From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.

Falk MJ, Shen L, Gai X. Falk MJ, et al. Among authors: shen l. Cold Spring Harb Mol Case Stud. 2016 May;2(3):a001065. doi: 10.1101/mcs.a001065. Cold Spring Harb Mol Case Stud. 2016. PMID: 27148591 Free PMC article. No abstract available.

3

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L. Ji J, et al. Among authors: shen l. Am J Med Genet A. 2017 May;173(5):1390-1395. doi: 10.1002/ajmg.a.38184. Epub 2017 Mar 28. Am J Med Genet A. 2017. PMID: 28371217 Free PMC article.

4

NOD2 genetic variants and sarcoidosis-associated uveitis.

Davoudi S, Navarro-Gomez D, Shen L, Ung C, Ren A, Sullivan L, Kwong M, Janessian M, Comander J, Gai X, Lobo AM, Papaliodis GN, Sobrin L. Davoudi S, et al. Among authors: shen l. Am J Ophthalmol Case Rep. 2016 Jun 1;3:39-42. doi: 10.1016/j.ajoc.2016.05.005. eCollection 2016 Oct. Am J Ophthalmol Case Rep. 2016. PMID: 29503906 Free PMC article.

5

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

Shen L, Attimonelli M, Bai R, Lott MT, Wallace DC, Falk MJ, Gai X. Shen L, et al. Hum Mutat. 2018 Jun;39(6):806-810. doi: 10.1002/humu.23422. Epub 2018 Apr 6. Hum Mutat. 2018. PMID: 29539190 Free PMC article.

6

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X. Ji J, et al. Among authors: shen l. Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2):a003756. doi: 10.1101/mcs.a003756. Print 2019 Apr. Cold Spring Harb Mol Case Stud. 2019. PMID: 30755392 Free PMC article.

7

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.

Shen L, McCormick EM, Muraresku CC, Falk MJ, Gai X. Shen L, et al. Clin Lab Med. 2020 Jun;40(2):149-161. doi: 10.1016/j.cll.2020.02.002. Clin Lab Med. 2020. PMID: 32439066 Free PMC article. Review.

8

Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes.

Xu L, Shen L, Polski A, Prabakar RK, Shah R, Jubran R, Kim JW, Biegel J, Kuhn P, Cobrinik D, Hicks J, Gai X, Berry JL. Xu L, et al. Among authors: shen l. Ophthalmic Genet. 2020 Dec;41(6):526-532. doi: 10.1080/13816810.2020.1799417. Epub 2020 Aug 17. Ophthalmic Genet. 2020. PMID: 32799607 Free PMC article.

9

Comprehensive Genome Analysis of 6,000 USA SARS-CoV-2 Isolates Reveals Haplotype Signatures and Localized Transmission Patterns by State and by Country.

Shen L, Dien Bard J, Biegel JA, Judkins AR, Gai X. Shen L, et al. Front Microbiol. 2020 Sep 3;11:573430. doi: 10.3389/fmicb.2020.573430. eCollection 2020. Front Microbiol. 2020. PMID: 33013809 Free PMC article.

10

Early pandemic molecular diversity of SARS-CoV-2 in children.

Moustafa AM, Otto W, Gai X, Pandey U, Ryutov A, Bootwalla M, Maglinte DT, Shen L, Ruble D, Ostrow D, Gerber JS, Bard JD, Harris RM, Planet PJ. Moustafa AM, et al. Among authors: shen l. medRxiv [Preprint]. 2021 Feb 19:2021.02.17.21251960. doi: 10.1101/2021.02.17.21251960. medRxiv. 2021. PMID: 33619507 Free PMC article. Preprint.

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