Shen L - Search Results

1

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.

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

Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis.

Lam JD, Oh DJ, Wong LL, Amarnani D, Park-Windhol C, Sanchez AV, Cardona-Velez J, McGuone D, Stemmer-Rachamimov AO, Eliott D, Bielenberg DR, van Zyl T, Shen L, Gai X, D'Amore PA, Kim LA, Arboleda-Velasquez JF. Lam JD, et al. Among authors: shen l. Diabetes. 2017 Jul;66(7):1950-1956. doi: 10.2337/db16-1035. Epub 2017 Apr 11. Diabetes. 2017. PMID: 28400392 Free PMC article.

5

Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.

Ung C, Sanchez AV, Shen L, Davoudi S, Ahmadi T, Navarro-Gomez D, Chen CJ, Hancock H, Penman A, Hoadley S, Consugar M, Restrepo C, Shah VA, Arboleda-Velasquez JF, Sobrin L, Gai X, Kim LA. Ung C, et al. Among authors: shen l. Vision Res. 2017 Oct;139:168-176. doi: 10.1016/j.visres.2017.03.007. Epub 2017 May 9. Vision Res. 2017. PMID: 28431867 Free PMC article. Review.

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

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.

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

Emerging variants of concern in SARS-CoV-2 membrane protein: a highly conserved target with potential pathological and therapeutic implications.

Shen L, Bard JD, Triche TJ, Judkins AR, Biegel JA, Gai X. Shen L, et al. Emerg Microbes Infect. 2021 Dec;10(1):885-893. doi: 10.1080/22221751.2021.1922097. Emerg Microbes Infect. 2021. PMID: 33896413 Free PMC article.

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