Works by Montgomery, Stephen B.


Results: 51
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    Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx.

    Published in:
    Genome Biology, 2020, v. 21, p. 1, doi. 10.1186/s13059-020-02113-0
    By:
    • Gay, Nicole R.;
    • Gloudemans, Michael;
    • Antonio, Margaret L.;
    • Abell, Nathan S.;
    • Balliu, Brunilda;
    • Park, YoSon;
    • Martin, Alicia R.;
    • Musharoff, Shaila;
    • Rao, Abhiram S.;
    • Aguet, François;
    • Barbeira, Alvaro N.;
    • Bonazzola, Rodrigo;
    • Hormozdiari, Farhad;
    • Ardlie, Kristin G.;
    • Brown, Christopher D.;
    • Im, Hae Kyung;
    • Lappalainen, Tuuli;
    • Wen, Xiaoquan;
    • Montgomery, Stephen B.
    Publication type:
    Article
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    Genetic regulation of gene expression and splicing during a 10-year period of human aging.

    Published in:
    Genome Biology, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s13059-019-1840-y
    By:
    • Balliu, Brunilda;
    • Durrant, Matthew;
    • Goede, Olivia de;
    • Abell, Nathan;
    • Li, Xin;
    • Liu, Boxiang;
    • Gloudemans, Michael J.;
    • Cook, Naomi L.;
    • Smith, Kevin S.;
    • Knowles, David A.;
    • Pala, Mauro;
    • Cucca, Francesco;
    • Schlessinger, David;
    • Jaiswal, Siddhartha;
    • Sabatti, Chiara;
    • Lind, Lars;
    • Ingelsson, Erik;
    • Montgomery, Stephen B.
    Publication type:
    Article
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    Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007755
    By:
    • Nanda, Vivek;
    • Wang, Ting;
    • Pjanic, Milos;
    • Liu, Boxiang;
    • Nguyen, Trieu;
    • Matic, Ljubica Perisic;
    • Hedin, Ulf;
    • Koplev, Simon;
    • Ma, Lijiang;
    • Franzén, Oscar;
    • Ruusalepp, Arno;
    • Schadt, Eric E.;
    • Björkegren, Johan L. M.;
    • Montgomery, Stephen B.;
    • Snyder, Michael P.;
    • Quertermous, Thomas;
    • Leeper, Nicholas J.;
    • Miller, Clint L.
    Publication type:
    Article
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    ORegAnno: an open-access community-driven resource for regulatory annotation.

    Published in:
    Nucleic Acids Research, 2008, v. 36, p. D107
    By:
    • Griffith, Obi L.;
    • Montgomery, Stephen B.;
    • Bernier, Bridget;
    • Chu, Bryan;
    • Kasaian, Katayoon;
    • Aerts, Stein;
    • Mahony, Shaun;
    • Sleumer, Monica C.;
    • Bilenky, Mikhail;
    • Haeussler, Maximilian;
    • Griffith, Malachi;
    • Gallo, Steven M.;
    • Giardine, Belinda;
    • Hooghe, Bart;
    • Van Loo, Peter;
    • Blanco, Enrique;
    • Ticoll, Amy;
    • Lithwick, Stuart;
    • Portales-Casamar, Elodie;
    • Donaldson, Ian J.
    Publication type:
    Article
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    Genome-wide association study identifies a common variant associated with risk of endometrial cancer.

    Published in:
    Nature Genetics, 2011, v. 43, n. 5, p. 451, doi. 10.1038/ng.812
    By:
    • Spurdle, Amanda B.;
    • Thompson, Deborah J.;
    • Ahmed, Shahana;
    • Ferguson, Kaltin;
    • Healey, Catherine S.;
    • O'Mara, Tracy;
    • Walker, Logan C.;
    • Montgomery, Stephen B.;
    • Dermitzakis, Emmanouil T.;
    • Fahey, Paul;
    • Montgomery, Grant W.;
    • Webb, Penelope M.;
    • Fasching, Peter A.;
    • Beckmann, Matthias W.;
    • Ekici, Arif B.;
    • Hein, Alexander;
    • Lambrechts, Diether;
    • Coenegrachts, Lieve;
    • Vergote, Ignace;
    • Amant, Frederic
    Publication type:
    Article
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    Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing.

    Published in:
    PLoS Genetics, 2015, v. 11, n. 1, p. 1, doi. 10.1371/journal.pgen.1004958
    By:
    • Gutierrez-Arcelus, Maria;
    • Ongen, Halit;
    • Lappalainen, Tuuli;
    • Montgomery, Stephen B.;
    • Buil, Alfonso;
    • Yurovsky, Alisa;
    • Bryois, Julien;
    • Padioleau, Ismael;
    • Romano, Luciana;
    • Planchon, Alexandra;
    • Falconnet, Emilie;
    • Bielser, Deborah;
    • Gagnebin, Maryline;
    • Giger, Thomas;
    • Borel, Christelle;
    • Letourneau, Audrey;
    • Makrythanasis, Periklis;
    • Guipponi, Michel;
    • Gehrig, Corinne;
    • Antonarakis, Stylianos E.
    Publication type:
    Article
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    Cis and Trans Effects of Human Genomic Variants on Gene Expression.

    Published in:
    PLoS Genetics, 2014, v. 10, n. 7, p. 1, doi. 10.1371/journal.pgen.1004461
    By:
    • Bryois, Julien;
    • Buil, Alfonso;
    • Evans, David M.;
    • Kemp, John P.;
    • Montgomery, Stephen B.;
    • Conrad, Donald F.;
    • Ho, Karen M.;
    • Ring, Susan;
    • Hurles, Matthew;
    • Deloukas, Panos;
    • Davey Smith, George;
    • Dermitzakis, Emmanouil T.
    Publication type:
    Article
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    Patterns of Cis Regulatory Variation in Diverse Human Populations.

    Published in:
    PLoS Genetics, 2012, v. 8, n. 4, p. 1, doi. 10.1371/journal.pgen.1002639
    By:
    • Stranger, Barbara E.;
    • Montgomery, Stephen B.;
    • Dimas, Antigone S.;
    • Parts, Leopold;
    • Stegle, Oliver;
    • Ingle, Catherine E.;
    • Sekowska, Magda;
    • Smith, George Davey;
    • Evans, David;
    • Gutierrez-Arcelus, Maria;
    • Price, Alkes;
    • Raj, Towfique;
    • Nisbett, James;
    • Nica, Alexandra C.;
    • Beazley, Claude;
    • Durbin, Richard;
    • Deloukas, Panos;
    • Dermitzakis, Emmanouil T.
    Publication type:
    Article
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    Current Challenges and New Opportunities for Gene-Environment Interaction Studies of Complex Diseases.

    Published in:
    American Journal of Epidemiology, 2017, v. 186, n. 7, p. 753, doi. 10.1093/aje/kwx227
    By:
    • McAllister, Kimberly;
    • Mechanic, Leah E.;
    • Amos, Christopher;
    • Aschard, Hugues;
    • Blair, Ian A.;
    • Chatterjee, Nilanjan;
    • Conti, David;
    • Gauderman, W. James;
    • Li Hsu;
    • Hutter, Carolyn M.;
    • Jankowska, Marta M.;
    • Kerr, Jacqueline;
    • Kraft, Peter;
    • Montgomery, Stephen B.;
    • Mukherjee, Bhramar;
    • Papanicolaou, George J.;
    • Patel, Chirag J.;
    • Ritchie, Marylyn D.;
    • Ritz, Beate R.;
    • Thomas, Duncan C.
    Publication type:
    Article
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    Incorporation of Biological Knowledge Into the Study of Gene-Environment Interactions.

    Published in:
    American Journal of Epidemiology, 2017, v. 186, n. 7, p. 771, doi. 10.1093/aje/kwx229
    By:
    • Ritchie, Marylyn D.;
    • Davis, Joe R.;
    • Aschard, Hugues;
    • Battle, Alexis;
    • Conti, David;
    • Du, Mengmeng;
    • Eskin, Eleazar;
    • Fallin, M. Daniele;
    • Li Hsu;
    • Kraft, Peter;
    • Moore, Jason H.;
    • Pierce, Brandon L.;
    • Bien, Stephanie A.;
    • Thomas, Duncan C.;
    • Peng Wei;
    • Montgomery, Stephen B.
    Publication type:
    Article
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    FIRE: functional inference of genetic variants that regulate gene expression.

    Published in:
    Bioinformatics, 2017, v. 33, n. 24, p. 3895, doi. 10.1093/bioinformatics/btx534
    By:
    • Ioannidis, Nilah M.;
    • Davis, Joe R.;
    • DeGorter, Marianne K.;
    • Larson, Nicholas B.;
    • McDonnell, Shannon K.;
    • French, Amy J.;
    • Battle, Alexis J.;
    • Hastie, Trevor J.;
    • Thibodeau, Stephen N.;
    • Montgomery, Stephen B.;
    • Bustamante, Carlos D.;
    • Sieh, Weiva;
    • Whittemore, Alice S.
    Publication type:
    Article
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    Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.

    Published in:
    Journal of Neurogenetics, 2021, v. 35, n. 2, p. 74, doi. 10.1080/01677063.2021.1892095
    By:
    • Burke, Elizabeth A.;
    • Sturgeon, Morgan;
    • Zastrow, Diane B.;
    • Fernandez, Liliana;
    • Prybol, Cameron;
    • Marwaha, Shruti;
    • Frothingham, Edward P.;
    • Ward, Patricia A.;
    • Eng, Christine M.;
    • Fresard, Laure;
    • Montgomery, Stephen B.;
    • Enns, Gregory M.;
    • Fisher, Paul G.;
    • Wolfe, Lynne A.;
    • Harding, Brian;
    • Carrington, Blake;
    • Bishop, Kevin;
    • Sood, Raman;
    • Huang, Yan;
    • Elkahloun, Abdel
    Publication type:
    Article
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    Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci.

    Published in:
    Nature Communications, 2016, v. 7, n. 7, p. 12092, doi. 10.1038/ncomms12092
    By:
    • Miller, Clint L.;
    • Pjanic, Milos;
    • Wang, Ting;
    • Nguyen, Trieu;
    • Cohain, Ariella;
    • Lee, Jonathan D.;
    • Perisic, Ljubica;
    • Hedin, Ulf;
    • Kundu, Ramendra K.;
    • Majmudar, Deshna;
    • Kim, Juyong B.;
    • Wang, Oliver;
    • Betsholtz, Christer;
    • Ruusalepp, Arno;
    • Franzén, Oscar;
    • Assimes, Themistocles L.;
    • Montgomery, Stephen B.;
    • Schadt, Eric E.;
    • Björkegren, Johan L.M.;
    • Quertermous, Thomas
    Publication type:
    Article
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    Performance of genomic medicine.

    Published in:
    Genome Biology, 2013, v. 14, n. 12, p. 1, doi. 10.1186/gb4146
    By:
    • Karczewski, Konrad J.;
    • Montgomery, Stephen B.
    Publication type:
    Article
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    Properties of structural variants and short tandem repeats associated with gene expression and complex traits.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16482-4
    By:
    • Jakubosky, David;
    • D'Antonio, Matteo;
    • Bonder, Marc Jan;
    • Smail, Craig;
    • Donovan, Margaret K. R.;
    • Young Greenwald, William W.;
    • Matsui, Hiroko;
    • i2QTL Consortium;
    • Bonder, Marc J.;
    • Cai, Na;
    • Carcamo-Orive, Ivan;
    • Frazer, Kelly A.;
    • Young Greenwald, William W.;
    • Knowles, Joshua W.;
    • McCarthy, Davis J.;
    • Mirauta, Bogdan A.;
    • Montgomery, Stephen B.;
    • Quertermous, Thomas;
    • Seaton, Daniel D.;
    • Smith, Erin N.
    Publication type:
    Article
    41

    Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16481-5
    By:
    • Jakubosky, David;
    • Smith, Erin N.;
    • D'Antonio, Matteo;
    • Jan Bonder, Marc;
    • Young Greenwald, William W.;
    • D'Antonio-Chronowska, Agnieszka;
    • Matsui, Hiroko;
    • i2QTL Consortium;
    • Bonder, Marc J.;
    • Cai, Na;
    • Carcamo-Orive, Ivan;
    • Frazer, Kelly A.;
    • Knowles, Joshua W.;
    • McCarthy, Davis J.;
    • Mirauta, Bogdan A.;
    • Montgomery, Stephen B.;
    • Quertermous, Thomas;
    • Seaton, Daniel D.;
    • Smail, Craig;
    • Stegle, Oliver
    Publication type:
    Article
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    Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03361-0
    By:
    • van Karnebeek, Clara D. M.;
    • O'Donnell-Luria, Anne;
    • Baynam, Gareth;
    • Baudot, Anaïs;
    • Groza, Tudor;
    • Jans, Judith J. M.;
    • Lassmann, Timo;
    • Letinturier, Mary Catherine V.;
    • Montgomery, Stephen B.;
    • Robinson, Peter N.;
    • Sansen, Stefaan;
    • Mehrian-Shai, Ruty;
    • Steward, Charles;
    • Kosaki, Kenjiro;
    • Durao, Patricia;
    • Sadikovic, Bekim
    Publication type:
    Article
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    Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

    Published in:
    Human Mutation, 2017, v. 38, n. 6, p. 611, doi. 10.1002/humu.23211
    By:
    • Kernohan, Kristin D.;
    • Frésard, Laure;
    • Zappala, Zachary;
    • Hartley, Taila;
    • Smith, Kevin S.;
    • Wagner, Justin;
    • Xu, Hongbin;
    • McBride, Arran;
    • Bourque, Pierre R.;
    • Consortium, Care4Rare Canada;
    • Bennett, Steffany A. L.;
    • Dyment, David A.;
    • Boycott, Kym M.;
    • Montgomery, Stephen B.;
    • Warman Chardon, Jodi
    Publication type:
    Article
    49

    PML nuclear bodies contribute to the basal expression of the mTOR inhibitor DDIT4.

    Published in:
    Scientific Reports, 2017, p. 45038, doi. 10.1038/srep45038
    By:
    • Salsman, Jayme;
    • Stathakis, Alex;
    • Parker, Ellen;
    • Chung, Dudley;
    • Anthes, Livia E.;
    • Koskowich, Kara L.;
    • Lahsaee, Sara;
    • Gaston, Daniel;
    • Kukurba, Kimberly R.;
    • Smith, Kevin S.;
    • Chute, Ian C.;
    • Léger, Daniel;
    • Frost, Laura D.;
    • Montgomery, Stephen B.;
    • Lewis, Stephen M.;
    • Eskiw, Christopher;
    • Dellaire, Graham
    Publication type:
    Article
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