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Results: 1 to 20 of 66


The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.

Petrovski S, Gussow AB, Wang Q, Halvorsen M, Han Y, Weir WH, Allen AS, Goldstein DB.

PLoS Genet. 2015 Sep 2;11(9):e1005492. doi: 10.1371/journal.pgen.1005492. eCollection 2015 Sep.


Incorporating Functional Information in Tests of Excess De Novo Mutational Load.

Jiang Y, Han Y, Petrovski S, Owzar K, Goldstein DB, Allen AS.

Am J Hum Genet. 2015 Aug 6;97(2):272-83. doi: 10.1016/j.ajhg.2015.06.013. Epub 2015 Jul 30.


The Genetics of Neuropsychiatric Diseases: Looking In and Beyond the Exome.

Heinzen EL, Neale BM, Traynelis SF, Allen AS, Goldstein DB.

Annu Rev Neurosci. 2015 Jul 8;38:47-68. doi: 10.1146/annurev-neuro-071714-034136. Epub 2015 Apr 2.


Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A; FALS Sequencing Consortium, Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pulst SM, Gibson S, Trojanowski JQ, Elman L, McCluskey L, Grossman M, Shneider NA, Chung WK, Ravits JM, Glass JD, Sims KB, Van Deerlin VM, Maniatis T, Hayes SD, Ordureau A, Swarup S, Landers J, Baas F, Allen AS, Bedlack RS, Harper JW, Gitler AD, Rouleau GA, Brown R, Harms MB, Cooper GM, Harris T, Myers RM, Goldstein DB.

Science. 2015 Mar 27;347(6229):1436-41. doi: 10.1126/science.aaa3650. Epub 2015 Feb 19.


Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies.

Jiang Y, McCarthy JM, Allen AS.

Genet Epidemiol. 2015 Mar;39(3):166-72. doi: 10.1002/gepi.21885. Epub 2015 Jan 28.


Testing for risk and protective trends in genetic analyses of HIV acquisition.

Mccarthy JM, Shea PR, Goldstein DB, Allen AS.

Biostatistics. 2015 Apr;16(2):268-80. doi: 10.1093/biostatistics/kxu044. Epub 2014 Sep 29.


Utilizing population controls in rare-variant case-parent association tests.

Jiang Y, Satten GA, Han Y, Epstein MP, Heinzen EL, Goldstein DB, Allen AS.

Am J Hum Genet. 2014 Jun 5;94(6):845-53. doi: 10.1016/j.ajhg.2014.04.014. Epub 2014 May 15.


An evaluation of copy number variation detection tools from whole-exome sequencing data.

Tan R, Wang Y, Kleinstein SE, Liu Y, Zhu X, Guo H, Jiang Q, Allen AS, Zhu M.

Hum Mutat. 2014 Jul;35(7):899-907. doi: 10.1002/humu.22537. Epub 2014 May 1.


A genome-wide association study of variants associated with acquisition of Staphylococcus aureus bacteremia in a healthcare setting.

Nelson CL, Pelak K, Podgoreanu MV, Ahn SH, Scott WK, Allen AS, Cowell LG, Rude TH, Zhang Y, Tong A, Ruffin F, Sharma-Kuinkel BK, Fowler VG Jr.

BMC Infect Dis. 2014 Feb 13;14:83. doi: 10.1186/1471-2334-14-83.


Robust regression analysis of copy number variation data based on a univariate score.

Satten GA, Allen AS, Ikeda M, Mulle JG, Warren ST.

PLoS One. 2014 Feb 7;9(2):e86272. doi: 10.1371/journal.pone.0086272. eCollection 2014.


Genic intolerance to functional variation and the interpretation of personal genomes.

Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB.

PLoS Genet. 2013;9(8):e1003709. doi: 10.1371/journal.pgen.1003709. Epub 2013 Aug 22.


De novo mutations in epileptic encephalopathies.

Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR.

Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.


Leveraging prior information to detect causal variants via multi-variant regression.

Long N, Dickson SP, Maia JM, Kim HS, Zhu Q, Allen AS.

PLoS Comput Biol. 2013;9(6):e1003093. doi: 10.1371/journal.pcbi.1003093. Epub 2013 Jun 6.


Dispensing of electronically discontinued medications.

Allen AS.

Ann Intern Med. 2013 Apr 2;158(7):571-2. doi: 10.7326/0003-4819-158-7-201304020-00021. No abstract available.


Pharmacy dispensing of electronically discontinued medications.

Allen AS, Sequist TD.

Ann Intern Med. 2012 Nov 20;157(10):700-5. doi: 10.7326/0003-4819-157-10-201211200-00006.


A permutation procedure to correct for confounders in case-control studies, including tests of rare variation.

Epstein MP, Duncan R, Jiang Y, Conneely KN, Allen AS, Satten GA.

Am J Hum Genet. 2012 Aug 10;91(2):215-23. doi: 10.1016/j.ajhg.2012.06.004. Epub 2012 Jul 19.


Stratification-score matching improves correction for confounding by population stratification in case-control association studies.

Epstein MP, Duncan R, Broadaway KA, He M, Allen AS, Satten GA.

Genet Epidemiol. 2012 Apr;36(3):195-205. doi: 10.1002/gepi.21611.


A weighted accumulation test for associating rare genetic variation with quantitative phenotypes.

Xing C, Satten GA, Allen AS.

BMC Proc. 2011 Nov 29;5 Suppl 9:S6. doi: 10.1186/1753-6561-5-S9-S6.


Clinician personality and the evaluation of higher-risk patient symptoms.

Allen AS, Orav EJ, Lee TH, Sequist TD.

J Patient Saf. 2011 Sep;7(3):122-6. doi: 10.1097/PTS.0b013e318223cb41.


SVA: software for annotating and visualizing sequenced human genomes.

Ge D, Ruzzo EK, Shianna KV, He M, Pelak K, Heinzen EL, Need AC, Cirulli ET, Maia JM, Dickson SP, Zhu M, Singh A, Allen AS, Goldstein DB.

Bioinformatics. 2011 Jul 15;27(14):1998-2000. doi: 10.1093/bioinformatics/btr317. Epub 2011 May 29.

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