Shen L - Search Results

1

High Prevalence of SARS-CoV-2 Genetic Variation and D614G Mutation in Pediatric Patients With COVID-19.

Pandey U, Yee R, Shen L, Judkins AR, Bootwalla M, Ryutov A, Maglinte DT, Ostrow D, Precit M, Biegel JA, Bender JM, Gai X, Dien Bard J. Pandey U, et al. Among authors: shen l. Open Forum Infect Dis. 2020 Nov 13;8(6):ofaa551. doi: 10.1093/ofid/ofaa551. eCollection 2021 Jun. Open Forum Infect Dis. 2020. PMID: 34095334 Free PMC article.

2

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.

Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, van Oven M, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ, Gai X. Shen L, et al. Hum Mutat. 2016 Jun;37(6):540-548. doi: 10.1002/humu.22974. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26919060 Free PMC article.

3

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.

4

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.

5

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.

6

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.

7

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.

8

Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.

Arboleda-Velasquez JF, Lopera F, O'Hare M, Delgado-Tirado S, Marino C, Chmielewska N, Saez-Torres KL, Amarnani D, Schultz AP, Sperling RA, Leyton-Cifuentes D, Chen K, Baena A, Aguillon D, Rios-Romenets S, Giraldo M, Guzmán-Vélez E, Norton DJ, Pardilla-Delgado E, Artola A, Sanchez JS, Acosta-Uribe J, Lalli M, Kosik KS, Huentelman MJ, Zetterberg H, Blennow K, Reiman RA, Luo J, Chen Y, Thiyyagura P, Su Y, Jun GR, Naymik M, Gai X, Bootwalla M, Ji J, Shen L, Miller JB, Kim LA, Tariot PN, Johnson KA, Reiman EM, Quiroz YT. Arboleda-Velasquez JF, et al. Among authors: shen l. Nat Med. 2019 Nov;25(11):1680-1683. doi: 10.1038/s41591-019-0611-3. Epub 2019 Nov 4. Nat Med. 2019. PMID: 31686034 Free PMC article.

9

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.

10

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.

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