Li Q - Search Results

1

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.

Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, Agrawal PB. Schmitz-Abe K, et al. Among authors: li q. Eur J Hum Genet. 2019 Sep;27(9):1398-1405. doi: 10.1038/s41431-019-0401-x. Epub 2019 Apr 12. Eur J Hum Genet. 2019. PMID: 30979967 Free PMC article.

2

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.

Fan X, Xie B, Zou J, Luo J, Qin Z, D'Gama AM, Shi J, Yi S, Yang Q, Wang J, Luo S, Chen S, Agrawal PB, Li Q, Shen Y. Fan X, et al. Among authors: li q. Mol Genet Metab Rep. 2018 Jun 11;16:15-19. doi: 10.1016/j.ymgmr.2018.05.007. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 29988809 Free PMC article.

3

Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations.

Fu C, Luo S, Zhang Y, Fan X, D'Gama AM, Zhang X, Zheng H, Su J, Li C, Luo J, Agrawal PB, Li Q, Chen S. Fu C, et al. Among authors: li c, li q. Clin Chim Acta. 2019 Feb;489:103-108. doi: 10.1016/j.cca.2018.11.035. Epub 2018 Nov 30. Clin Chim Acta. 2019. PMID: 30508507

4

Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases.

Meng D, Li Q, Hu X, Wang L, Tan S, Su J, Zhang Y, Sun W, Chen B, He S, Lin F, Xie B, Chen S, Agrawal PB, Luo S, Fu C. Meng D, et al. Among authors: li q. Sci Rep. 2019 Jul 24;9(1):10726. doi: 10.1038/s41598-019-47050-6. Sci Rep. 2019. PMID: 31341179 Free PMC article.

5

Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation.

Li Q, Lin J, Rosen SM, Zhang T, Kazerounian S, Luo S, Agrawal PB. Li Q, et al. Am J Pathol. 2020 Dec;190(12):2453-2463. doi: 10.1016/j.ajpath.2020.08.012. Epub 2020 Sep 11. Am J Pathol. 2020. PMID: 32919980 Free PMC article.

6

SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.

Luo S, Li Q, Lin J, Murphy Q, Marty I, Zhang Y, Kazerounian S, Agrawal PB. Luo S, et al. Among authors: li q. Hum Mol Genet. 2021 Feb 25;29(24):3882-3891. doi: 10.1093/hmg/ddaa276. Hum Mol Genet. 2021. PMID: 33355670 Free PMC article.

7

Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.

Almannai M, Luo S, Faqeih E, Almutairi F, Li Q, Agrawal PB. Almannai M, et al. Among authors: li q. Circ Genom Precis Med. 2021 Apr;14(2):e003310. doi: 10.1161/CIRCGEN.120.003310. Epub 2021 Apr 2. Circ Genom Precis Med. 2021. PMID: 33794647 Free PMC article. No abstract available.

8

Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease.

Luo S, Rosen SM, Li Q, Agrawal PB. Luo S, et al. Among authors: li q. Int J Mol Sci. 2021 May 27;22(11):5732. doi: 10.3390/ijms22115732. Int J Mol Sci. 2021. PMID: 34072258 Free PMC article. Review.

9

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.

Li Q, Dibus M, Casey A, Yee CSK, Vargas SO, Luo S, Rosen SM, Madden JA, Genetti CA, Brabek J, Brownstein CA, Kazerounian S, Raby BA, Schmitz-Abe K, Kennedy JC, Fishman MP, Mullen MP, Taylor JM, Rosel D, Agrawal PB. Li Q, et al. PLoS Genet. 2021 Jul 7;17(7):e1009639. doi: 10.1371/journal.pgen.1009639. eCollection 2021 Jul. PLoS Genet. 2021. PMID: 34232960 Free PMC article.

10

Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome.

Li Q, Madden JA, Lin J, Shi J, Rosen SM, Schmitz-Abe K, Agrawal PB. Li Q, et al. J Pers Med. 2021 Dec 2;11(12):1277. doi: 10.3390/jpm11121277. J Pers Med. 2021. PMID: 34945750 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

65,800 results

Search Page

Filters