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Items: 49

1.

A semi-supervised approach for predicting cell-type specific functional consequences of non-coding variation using MPRAs.

He Z, Liu L, Wang K, Ionita-Laza I.

Nat Commun. 2018 Dec 5;9(1):5199. doi: 10.1038/s41467-018-07349-w.

2.

Disease Heritability Inferred from Familial Relationships Reported in Medical Records.

Polubriaginof FCG, Vanguri R, Quinnies K, Belbin GM, Yahi A, Salmasian H, Lorberbaum T, Nwankwo V, Li L, Shervey MM, Glowe P, Ionita-Laza I, Simmerling M, Hripcsak G, Bakken S, Goldstein D, Kiryluk K, Kenny EE, Dudley J, Vawdrey DK, Tatonetti NP.

Cell. 2018 Jun 14;173(7):1692-1704.e11. doi: 10.1016/j.cell.2018.04.032. Epub 2018 May 17.

PMID:
29779949
3.

A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies.

Liu Y, Liang Y, Cicek AE, Li Z, Li J, Muhle RA, Krenzer M, Mei Y, Wang Y, Knoblauch N, Morrison J, Zhao S, Jiang Y, Geller E, Ionita-Laza I, Wu J, Xia K, Noonan JP, Sun ZS, He X.

Am J Hum Genet. 2018 Jun 7;102(6):1031-1047. doi: 10.1016/j.ajhg.2018.03.023. Epub 2018 May 10.

4.

FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications.

Backenroth D, He Z, Kiryluk K, Boeva V, Pethukova L, Khurana E, Christiano A, Buxbaum JD, Ionita-Laza I.

Am J Hum Genet. 2018 May 3;102(5):920-942. doi: 10.1016/j.ajhg.2018.03.026.

5.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Dec 7;101(6):1034. doi: 10.1016/j.ajhg.2017.11.003. No abstract available.

6.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018. Erratum in: Am J Hum Genet. 2017 Dec 7;101(6):1034.

7.

Rare-variant association tests in longitudinal studies, with an application to the Multi-Ethnic Study of Atherosclerosis (MESA).

He Z, Lee S, Zhang M, Smith JA, Guo X, Palmas W, Kardia SLR, Ionita-Laza I, Mukherjee B.

Genet Epidemiol. 2017 Dec;41(8):801-810. doi: 10.1002/gepi.22081. Epub 2017 Oct 27.

8.

Unified Sequence-Based Association Tests Allowing for Multiple Functional Annotations and Meta-analysis of Noncoding Variation in Metabochip Data.

He Z, Xu B, Lee S, Ionita-Laza I.

Am J Hum Genet. 2017 Sep 7;101(3):340-352. doi: 10.1016/j.ajhg.2017.07.011. Epub 2017 Aug 24.

9.

QRank: a novel quantile regression tool for eQTL discovery.

Song X, Li G, Zhou Z, Wang X, Ionita-Laza I, Wei Y.

Bioinformatics. 2017 Jul 15;33(14):2123-2130. doi: 10.1093/bioinformatics/btx119.

10.

GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway.

Kiryluk K, Li Y, Moldoveanu Z, Suzuki H, Reily C, Hou P, Xie J, Mladkova N, Prakash S, Fischman C, Shapiro S, LeDesma RA, Bradbury D, Ionita-Laza I, Eitner F, Rauen T, Maillard N, Berthoux F, Floege J, Chen N, Zhang H, Scolari F, Wyatt RJ, Julian BA, Gharavi AG, Novak J.

PLoS Genet. 2017 Feb 10;13(2):e1006609. doi: 10.1371/journal.pgen.1006609. eCollection 2017 Feb.

11.

De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.

Takata A, Ionita-Laza I, Gogos JA, Xu B, Karayiorgou M.

Neuron. 2016 Mar 2;89(5):940-7. doi: 10.1016/j.neuron.2016.02.024.

12.

A General and Robust Framework for Secondary Traits Analysis.

Song X, Ionita-Laza I, Liu M, Reibman J, We Y.

Genetics. 2016 Apr;202(4):1329-43. doi: 10.1534/genetics.115.181073. Epub 2016 Feb 19.

13.

A spectral approach integrating functional genomic annotations for coding and noncoding variants.

Ionita-Laza I, McCallum K, Xu B, Buxbaum JD.

Nat Genet. 2016 Feb;48(2):214-20. doi: 10.1038/ng.3477. Epub 2016 Jan 4.

14.

Identification of candidate genes for familial early-onset essential tremor.

Liu X, Hernandez N, Kisselev S, Floratos A, Sawle A, Ionita-Laza I, Ottman R, Louis ED, Clark LN.

Eur J Hum Genet. 2016 Jul;24(7):1009-15. doi: 10.1038/ejhg.2015.228. Epub 2015 Oct 28.

15.

Empirical Bayes scan statistics for detecting clusters of disease risk variants in genetic studies.

McCallum KJ, Ionita-Laza I.

Biometrics. 2015 Dec;71(4):1111-20. doi: 10.1111/biom.12331. Epub 2015 Jun 1.

16.

Integrative analysis of functional genomic annotations and sequencing data to identify rare causal variants via hierarchical modeling.

Capanu M, Ionita-Laza I.

Front Genet. 2015 May 8;6:17. doi: 10.3389/fgene.2015.00176. eCollection 2015.

17.

Genetic variants within the serotonin transporter associated with familial risk for major depression.

Talati A, Guffanti G, Odgerel Z, Ionita-Laza I, Malm H, Sourander A, Brown AS, Wickramaratne PJ, Gingrich JA, Weissman MM.

Psychiatry Res. 2015 Jul 30;228(1):170-3. doi: 10.1016/j.psychres.2015.04.015. Epub 2015 Apr 18.

18.

Small sample properties of rare variant analysis methods.

Swartz MD, Kim T, Niu J, Yu RK, Shete S, Ionita-Laza I.

BMC Proc. 2014 Jun 17;8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S13. doi: 10.1186/1753-6561-8-S1-S13. eCollection 2014.

19.

Comparing the power of family-based association tests for sequence data with applications in the GAW18 simulated data.

Huang J, Chen Y, Swartz MD, Ionita-Laza I.

BMC Proc. 2014 Jun 17;8(Suppl 1):S27. doi: 10.1186/1753-6561-8-S1-S27. eCollection 2014.

20.

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.

Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD.

PLoS Genet. 2014 Dec 11;10(12):e1004729. doi: 10.1371/journal.pgen.1004729. eCollection 2014 Dec.

21.

Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene.

Takata A, Xu B, Ionita-Laza I, Roos JL, Gogos JA, Karayiorgou M.

Neuron. 2014 May 21;82(4):773-80. doi: 10.1016/j.neuron.2014.04.043.

22.

Essential Tremor in a Charcot-Marie-Tooth Type 2C Kindred Does Not Segregate with the TRPV4 R269H Mutation.

Louis ED, Hernandez N, Ottman R, Ionita-Laza I, Clark LN.

Case Rep Neurol. 2014 Jan 22;6(1):1-6. doi: 10.1159/000357665. eCollection 2014 Jan.

23.

Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism.

Ionita-Laza I, Xu B, Makarov V, Buxbaum JD, Roos JL, Gogos JA, Karayiorgou M.

Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):343-8. doi: 10.1073/pnas.1309475110. Epub 2013 Dec 16.

24.

Sequence kernel association tests for the combined effect of rare and common variants.

Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X.

Am J Hum Genet. 2013 Jun 6;92(6):841-53. doi: 10.1016/j.ajhg.2013.04.015. Epub 2013 May 16.

25.

Copy number variation genotyping using family information.

Chu JH, Rogers A, Ionita-Laza I, Darvishi K, Mills RE, Lee C, Raby BA.

BMC Bioinformatics. 2013 May 9;14:157. doi: 10.1186/1471-2105-14-157.

26.

Copy number variation prevalence in known asthma genes and their impact on asthma susceptibility.

Rogers AJ, Chu JH, Darvishi K, Ionita-Laza I, Lehmann H, Mills R, Lee C, Raby BA.

Clin Exp Allergy. 2013 Apr;43(4):455-62. doi: 10.1111/cea.12060.

27.

Family-based association tests for sequence data, and comparisons with population-based association tests.

Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X.

Eur J Hum Genet. 2013 Oct;21(10):1158-62. doi: 10.1038/ejhg.2012.308. Epub 2013 Feb 6.

28.

Rare variant analysis for family-based design.

De G, Yip WK, Ionita-Laza I, Laird N.

PLoS One. 2013;8(1):e48495. doi: 10.1371/journal.pone.0048495. Epub 2013 Jan 15.

29.

Does rate of progression run in essential tremor families? Slower vs. faster progressors.

Louis ED, Hernandez N, Ionita-Laza I, Ottman R, Clark LN.

Parkinsonism Relat Disord. 2013 Mar;19(3):363-6. doi: 10.1016/j.parkreldis.2012.10.005. Epub 2012 Oct 31.

30.

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

Xu B, Ionita-Laza I, Roos JL, Boone B, Woodrick S, Sun Y, Levy S, Gogos JA, Karayiorgou M.

Nat Genet. 2012 Dec;44(12):1365-9. doi: 10.1038/ng.2446. Epub 2012 Oct 3.

31.

Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets.

Ionita-Laza I, Makarov V; ARRA Autism Sequencing Consortium, Buxbaum JD.

Am J Hum Genet. 2012 Jun 8;90(6):1002-13. doi: 10.1016/j.ajhg.2012.04.010. Epub 2012 May 10.

32.

Identifying rare disease variants in the Genetic Analysis Workshop 17 simulated data: a comparison of several statistical approaches.

Fan R, Huang CH, Lo SH, Zheng T, Ionita-Laza I.

BMC Proc. 2011 Nov 29;5 Suppl 9:S17. doi: 10.1186/1753-6561-5-S9-S17. eCollection 2011.

33.

Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF.

Ho YY, Ionita-Laza I, Ottman R.

Neurology. 2012 Feb 21;78(8):563-8. doi: 10.1212/WNL.0b013e318247ccbf. Epub 2012 Feb 8.

34.

Finding disease variants in Mendelian disorders by using sequence data: methods and applications.

Ionita-Laza I, Makarov V, Yoon S, Raby B, Buxbaum J, Nicolae DL, Lin X.

Am J Hum Genet. 2011 Dec 9;89(6):701-12. doi: 10.1016/j.ajhg.2011.11.003. Epub 2011 Dec 1.

35.

Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs.

Ionita-Laza I, Ottman R.

Genetics. 2011 Nov;189(3):1061-8. doi: 10.1534/genetics.111.131813. Epub 2011 Aug 11.

36.

Refinement of primate copy number variation hotspots identifies candidate genomic regions evolving under positive selection.

Gokcumen O, Babb PL, Iskow RC, Zhu Q, Shi X, Mills RE, Ionita-Laza I, Vallender EJ, Clark AG, Johnson WE, Lee C.

Genome Biol. 2011;12(5):R52. doi: 10.1186/gb-2011-12-5-r52. Epub 2011 May 31.

37.

A new testing strategy to identify rare variants with either risk or protective effect on disease.

Ionita-Laza I, Buxbaum JD, Laird NM, Lange C.

PLoS Genet. 2011 Feb 3;7(2):e1001289. doi: 10.1371/journal.pgen.1001289.

38.

On the optimal design of genetic variant discovery studies.

Ionita-Laza I, Laird NM.

Stat Appl Genet Mol Biol. 2010;9:Article33. doi: 10.2202/1544-6115.1581. Epub 2010 Aug 27.

39.

The interaction of glutathione S-transferase M1-null variants with tobacco smoke exposure and the development of childhood asthma.

Rogers AJ, Brasch-Andersen C, Ionita-Laza I, Murphy A, Sharma S, Klanderman BJ, Raby BA.

Clin Exp Allergy. 2009 Nov;39(11):1721-9. doi: 10.1111/j.1365-2222.2009.03372.x.

40.
41.

Linkage disequilibrium mapping of the chromosome 6q21-22.31 bipolar I disorder susceptibility locus.

Fan J, Ionita-Laza I, McQueen MB, Devlin B, Purcell S, Faraone SV, Allen MH, Bowden CL, Calabrese JR, Fossey MD, Friedman ES, Gyulai L, Hauser P, Ketter TB, Marangell LB, Miklowitz DJ, Nierenberg AA, Patel JK, Sachs GS, Thase ME, Molay FB, Escamilla MA, Nimgaonkar VL, Sklar P, Laird NM, Smoller JW.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):29-37. doi: 10.1002/ajmg.b.30942.

42.

Estimating the number of unseen variants in the human genome.

Ionita-Laza I, Lange C, M Laird N.

Proc Natl Acad Sci U S A. 2009 Mar 31;106(13):5008-13. doi: 10.1073/pnas.0807815106. Epub 2009 Mar 10.

43.

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis.

Ionita-Laza I, Rogers AJ, Lange C, Raby BA, Lee C.

Genomics. 2009 Jan;93(1):22-6. doi: 10.1016/j.ygeno.2008.08.012. Epub 2008 Oct 19. Review.

44.

On the frequency of copy number variants.

Ionita-Laza I, Laird NM, Raby BA, Weiss ST, Lange C.

Bioinformatics. 2008 Oct 15;24(20):2350-5. doi: 10.1093/bioinformatics/btn421. Epub 2008 Aug 8.

45.

Constructing gene association networks for rheumatoid arthritis using the backward genotype-trait association (BGTA) algorithm.

Ding Y, Cong L, Ionita-Laza I, Lo SH, Zheng T.

BMC Proc. 2007;1 Suppl 1:S13. Epub 2007 Dec 18.

46.

Joint study of genetic regulators for expression traits related to breast cancer.

Zheng T, Wang S, Cong L, Ding Y, Ionita-Laza I, Lo SH.

BMC Proc. 2007;1 Suppl 1:S10. Epub 2007 Dec 18.

47.

On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test.

Ionita-Laza I, Perry GH, Raby BA, Klanderman B, Lee C, Laird NM, Weiss ST, Lange C.

Genet Epidemiol. 2008 Apr;32(3):273-84. doi: 10.1002/gepi.20302.

PMID:
18228561
48.

Using linkage and association to identify and model genetic effects: summary of GAW15 Group 4.

Yang Q, Biernacka JM, Chen MH, Houwing-Duistermaat JJ, Bergemann TL, Basu S, Fan R, Liu L, Bourgey M, Clerget-Darpoux F, Lin WY, Elston RC, Cupples LA, Apprey V, Cui J, Dupuis J, Ionita-Laza I, Li R, Lou X, Perdry H, Sherva R, Shugart YY, Suarez B, Wang H, Wormald H, Xing G, Xing C.

Genet Epidemiol. 2007;31 Suppl 1:S34-42.

PMID:
18046758
49.

Genomewide weighted hypothesis testing in family-based association studies, with an application to a 100K scan.

Ionita-Laza I, McQueen MB, Laird NM, Lange C.

Am J Hum Genet. 2007 Sep;81(3):607-14. Epub 2007 Jul 17.

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