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Items: 15


Pharmacogenetic analysis of belimumab fails to identify robust genetic predictors of efficacy in lupus.

St Jean PL, Roth DA, McCarthy LC, Hughes AR.

Pharmacogenet Genomics. 2019 Aug;29(6):132-135. doi: 10.1097/FPC.0000000000000378.


Tafenoquine treatment of Plasmodium vivax malaria: suggestive evidence that CYP2D6 reduced metabolism is not associated with relapse in the Phase 2b DETECTIVE trial.

St Jean PL, Xue Z, Carter N, Koh GC, Duparc S, Taylor M, Beaumont C, Llanos-Cuentas A, Rueangweerayut R, Krudsood S, Green JA, Rubio JP.

Malar J. 2016 Feb 18;15:97. doi: 10.1186/s12936-016-1145-5.


Analysis of rare variant population structure in Europeans explains differential stratification of gene-based tests.

Zawistowski M, Reppell M, Wegmann D, St Jean PL, Ehm MG, Nelson MR, Novembre J, Zöllner S.

Eur J Hum Genet. 2014 Sep;22(9):1137-44. doi: 10.1038/ejhg.2013.297. Epub 2014 Jan 8.


Evaluation of the effect of UGT1A1 polymorphisms on dolutegravir pharmacokinetics.

Chen S, St Jean P, Borland J, Song I, Yeo AJ, Piscitelli S, Rubio JP.

Pharmacogenomics. 2014 Jan;15(1):9-16. doi: 10.2217/pgs.13.190.


The influence of genomic context on mutation patterns in the human genome inferred from rare variants.

Schaibley VM, Zawistowski M, Wegmann D, Ehm MG, Nelson MR, St Jean PL, Abecasis GR, Novembre J, Zöllner S, Li JZ.

Genome Res. 2013 Dec;23(12):1974-84. doi: 10.1101/gr.154971.113. Epub 2013 Aug 29.


An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people.

Nelson MR, Wegmann D, Ehm MG, Kessner D, St Jean P, Verzilli C, Shen J, Tang Z, Bacanu SA, Fraser D, Warren L, Aponte J, Zawistowski M, Liu X, Zhang H, Zhang Y, Li J, Li Y, Li L, Woollard P, Topp S, Hall MD, Nangle K, Wang J, Abecasis G, Cardon LR, Zöllner S, Whittaker JC, Chissoe SL, Novembre J, Mooser V.

Science. 2012 Jul 6;337(6090):100-4. doi: 10.1126/science.1217876. Epub 2012 May 17.


Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Rubio JP, Topp S, Warren L, St Jean PL, Wegmann D, Kessner D, Novembre J, Shen J, Fraser D, Aponte J, Nangle K, Cardon LR, Ehm MG, Chissoe SL, Whittaker JC, Nelson MR, Mooser VE.

Hum Mutat. 2012 Jul;33(7):1087-98. doi: 10.1002/humu.22075. Epub 2012 Apr 4.


Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania FL, Mitra RD, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, St Jean P, Lawson M, Ehm MG, Mayeux R, Goate AM; NIA-LOAD/NCRAD Family Study Consortium.

PLoS One. 2012;7(2):e31039. doi: 10.1371/journal.pone.0031039. Epub 2012 Feb 1. Erratum in: PLoS One. 2012;7(5): doi/10.1371/annotation/c92e16da-7733-421d-b063-1db19488daa6. Haller, Gabe [added]..


Genetic deficiency of plasma lipoprotein-associated phospholipase A2 (PLA2G7 V297F null mutation) and risk of Alzheimer's disease in Japan.

Koshy B, Miyashita A, St Jean P, Stirnadel H, Kaise T, Rubio JP, Mooser V, Kuwano R, Irizarry MC.

J Alzheimers Dis. 2010;21(3):775-80. doi: 10.3233/JAD-2010-100513.


A genome-wide investigation of SNPs and CNVs in schizophrenia.

Need AC, Ge D, Weale ME, Maia J, Feng S, Heinzen EL, Shianna KV, Yoon W, Kasperaviciūte D, Gennarelli M, Strittmatter WJ, Bonvicini C, Rossi G, Jayathilake K, Cola PA, McEvoy JP, Keefe RS, Fisher EM, St Jean PL, Giegling I, Hartmann AM, Möller HJ, Ruppert A, Fraser G, Crombie C, Middleton LT, St Clair D, Roses AD, Muglia P, Francks C, Rujescu D, Meltzer HY, Goldstein DB.

PLoS Genet. 2009 Feb;5(2):e1000373. doi: 10.1371/journal.pgen.1000373. Epub 2009 Feb 6. Erratum in: PLoS Genet. 2009 Mar;5(3). doi: 10.1371/annotation/e0196ebb-de40-453f-8f8c-791b126618da.


Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.

Li H, Wetten S, Li L, St Jean PL, Upmanyu R, Surh L, Hosford D, Barnes MR, Briley JD, Borrie M, Coletta N, Delisle R, Dhalla D, Ehm MG, Feldman HH, Fornazzari L, Gauthier S, Goodgame N, Guzman D, Hammond S, Hollingworth P, Hsiung GY, Johnson J, Kelly DD, Keren R, Kertesz A, King KS, Lovestone S, Loy-English I, Matthews PM, Owen MJ, Plumpton M, Pryse-Phillips W, Prinjha RK, Richardson JC, Saunders A, Slater AJ, St George-Hyslop PH, Stinnett SW, Swartz JE, Taylor RL, Wherrett J, Williams J, Yarnall DP, Gibson RA, Irizarry MC, Middleton LT, Roses AD.

Arch Neurol. 2008 Jan;65(1):45-53. Epub 2007 Nov 12.


Disease-specific target selection: a critical first step down the right road.

Roses AD, Burns DK, Chissoe S, Middleton L, St Jean P.

Drug Discov Today. 2005 Feb 1;10(3):177-89. Review.


Genome-wide and fine-mapping linkage studies of type 2 diabetes and glucose traits in the Old Order Amish: evidence for a new diabetes locus on chromosome 14q11 and confirmation of a locus on chromosome 1q21-q24.

Hsueh WC, St Jean PL, Mitchell BD, Pollin TI, Knowler WC, Ehm MG, Bell CJ, Sakul H, Wagner MJ, Burns DK, Shuldiner AR.

Diabetes. 2003 Feb;52(2):550-7.


Eating behavior in the Old Order Amish: heritability analysis and a genome-wide linkage analysis.

Steinle NI, Hsueh WC, Snitker S, Pollin TI, Sakul H, St Jean PL, Bell CJ, Mitchell BD, Shuldiner AR.

Am J Clin Nutr. 2002 Jun;75(6):1098-106.


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