Pal LR - Search Results

1

Consensus Genome-Wide Expression Quantitative Trait Loci and Their Relationship with Human Complex Trait Disease.

Yu CH, Pal LR, Moult J. Yu CH, et al. Among authors: pal lr. OMICS. 2016 Jul;20(7):400-14. doi: 10.1089/omi.2016.0063. OMICS. 2016. PMID: 27428252 Free PMC article.

2

Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies.

Pal LR, Moult J. Pal LR, et al. J Mol Biol. 2015 Jul 3;427(13):2271-89. doi: 10.1016/j.jmb.2015.04.014. Epub 2015 May 1. J Mol Biol. 2015. PMID: 25937569 Free PMC article.

3

CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease.

Pal LR, Kundu K, Yin Y, Moult J. Pal LR, et al. Hum Mutat. 2017 Sep;38(9):1225-1234. doi: 10.1002/humu.23256. Epub 2017 Jun 28. Hum Mutat. 2017. PMID: 28512778 Free PMC article.

4

Reply to HU et al.: On the interpretation of gasdermin-B expression quantitative trait loci data.

Pal LR, Chao KL, Moult J, Herzberg O. Pal LR, et al. Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):E7863-E7864. doi: 10.1073/pnas.1712734114. Epub 2017 Sep 7. Proc Natl Acad Sci U S A. 2017. PMID: 28882987 Free PMC article. No abstract available.

5

Protein characterization of a candidate mechanism SNP for Crohn's disease: the macrophage stimulating protein R689C substitution.

Gorlatova N, Chao K, Pal LR, Araj RH, Galkin A, Turko I, Moult J, Herzberg O. Gorlatova N, et al. Among authors: pal lr. PLoS One. 2011;6(11):e27269. doi: 10.1371/journal.pone.0027269. Epub 2011 Nov 7. PLoS One. 2011. PMID: 22087277 Free PMC article.

6

Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Pal LR, Yu CH, Mount SM, Moult J. Pal LR, et al. BMC Genomics. 2015;16 Suppl 8(Suppl 8):S4. doi: 10.1186/1471-2164-16-S8-S4. Epub 2015 Jun 18. BMC Genomics. 2015. PMID: 26110739 Free PMC article.

7

Lessons from the CAGI-4 Hopkins clinical panel challenge.

Chandonia JM, Adhikari A, Carraro M, Chhibber A, Cutting GR, Fu Y, Gasparini A, Jones DT, Kramer A, Kundu K, Lam HYK, Leonardi E, Moult J, Pal LR, Searls DB, Shah S, Sunyaev S, Tosatto SCE, Yin Y, Buckley BA. Chandonia JM, et al. Among authors: pal lr. Hum Mutat. 2017 Sep;38(9):1155-1168. doi: 10.1002/humu.23225. Epub 2017 Jun 12. Hum Mutat. 2017. PMID: 28397312 Free PMC article.

8

Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.

Kundu K, Pal LR, Yin Y, Moult J. Kundu K, et al. Among authors: pal lr. Hum Mutat. 2017 Sep;38(9):1201-1216. doi: 10.1002/humu.23249. Epub 2017 Jun 27. Hum Mutat. 2017. PMID: 28497567 Free PMC article.

9

CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.

Pal LR, Kundu K, Yin Y, Moult J. Pal LR, et al. Hum Mutat. 2017 Sep;38(9):1169-1181. doi: 10.1002/humu.23257. Epub 2017 Jun 27. Hum Mutat. 2017. PMID: 28512736 Free PMC article.

10

Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges.

Yin Y, Kundu K, Pal LR, Moult J. Yin Y, et al. Among authors: pal lr. Hum Mutat. 2017 Sep;38(9):1109-1122. doi: 10.1002/humu.23267. Epub 2017 Jun 27. Hum Mutat. 2017. PMID: 28544272 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

44 results

Search Page

Filters