Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2015 1
2016 3
2017 14
2018 5
2019 5
2020 7
2021 5
2022 2
2026 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

40 results

Results by year

Filters applied: . Clear all
Page 1
Integration of rare expression outlier-associated variants improves polygenic risk prediction.
Smail C, Ferraro NM, Hui Q, Durrant MG, Aguirre M, Tanigawa Y, Keever-Keigher MR, Rao AS, Justesen JM, Li X, Gloudemans MJ, Assimes TL, Kooperberg C, Reiner AP, Huang J, O'Donnell CJ, Sun YV; Million Veteran Program; Rivas MA, Montgomery SB. Smail C, et al. Am J Hum Genet. 2022 Jun 2;109(6):1055-1064. doi: 10.1016/j.ajhg.2022.04.015. Epub 2022 May 18. Am J Hum Genet. 2022. PMID: 35588732 Free PMC article.
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.
Võsa U, Claringbould A, Westra HJ, Bonder MJ, Deelen P, Zeng B, Kirsten H, Saha A, Kreuzhuber R, Yazar S, Brugge H, Oelen R, de Vries DH, van der Wijst MGP, Kasela S, Pervjakova N, Alves I, Favé MJ, Agbessi M, Christiansen MW, Jansen R, Seppälä I, Tong L, Teumer A, Schramm K, Hemani G, Verlouw J, Yaghootkar H, Sönmez Flitman R, Brown A, Kukushkina V, Kalnapenkis A, Rüeger S, Porcu E, Kronberg J, Kettunen J, Lee B, Zhang F, Qi T, Hernandez JA, Arindrarto W, Beutner F; BIOS Consortium; i2QTL Consortium; Dmitrieva J, Elansary M, Fairfax BP, Georges M, Heijmans BT, Hewitt AW, Kähönen M, Kim Y, Knight JC, Kovacs P, Krohn K, Li S, Loeffler M, Marigorta UM, Mei H, Momozawa Y, Müller-Nurasyid M, Nauck M, Nivard MG, Penninx BWJH, Pritchard JK, Raitakari OT, Rotzschke O, Slagboom EP, Stehouwer CDA, Stumvoll M, Sullivan P, 't Hoen PAC, Thiery J, Tönjes A, van Dongen J, van Iterson M, Veldink JH, Völker U, Warmerdam R, Wijmenga C, Swertz M, Andiappan A, Montgomery GW, Ripatti S, Perola M, Kutalik Z, Dermitzakis E, Bergmann S, Frayling T, van Meurs J, Prokisch H, Ahsan H, Pierce BL, Lehtimäki T, Boomsma DI, Psaty BM, Gharib SA, Awadalla P, Milani L, Ouwehand WH, Downes K, Stegle O, Battle A, V… See abstract for full author list ➔ Võsa U, et al. Nat Genet. 2021 Sep;53(9):1300-1310. doi: 10.1038/s41588-021-00913-z. Epub 2021 Sep 2. Nat Genet. 2021. PMID: 34475573 Free PMC article.
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease.
de Goede OM, Nachun DC, Ferraro NM, Gloudemans MJ, Rao AS, Smail C, Eulalio TY, Aguet F, Ng B, Xu J, Barbeira AN, Castel SE, Kim-Hellmuth S, Park Y, Scott AJ, Strober BJ; GTEx Consortium; Brown CD, Wen X, Hall IM, Battle A, Lappalainen T, Im HK, Ardlie KG, Mostafavi S, Quertermous T, Kirkegaard K, Montgomery SB. de Goede OM, et al. Cell. 2021 May 13;184(10):2633-2648.e19. doi: 10.1016/j.cell.2021.03.050. Epub 2021 Apr 16. Cell. 2021. PMID: 33864768 Free PMC article.
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.
Bonder MJ, Smail C, Gloudemans MJ, Frésard L, Jakubosky D, D'Antonio M, Li X, Ferraro NM, Carcamo-Orive I, Mirauta B, Seaton DD, Cai N, Vakili D, Horta D, Zhao C, Zastrow DB, Bonner DE; HipSci Consortium; iPSCORE consortium; Undiagnosed Diseases Network; PhLiPS consortium; Wheeler MT, Kilpinen H, Knowles JW, Smith EN, Frazer KA, Montgomery SB, Stegle O. Bonder MJ, et al. Nat Genet. 2021 Mar;53(3):313-321. doi: 10.1038/s41588-021-00800-7. Epub 2021 Mar 4. Nat Genet. 2021. PMID: 33664507 Free PMC article.
Cell type-specific genetic regulation of gene expression across human tissues.
Kim-Hellmuth S, Aguet F, Oliva M, Muñoz-Aguirre M, Kasela S, Wucher V, Castel SE, Hamel AR, Viñuela A, Roberts AL, Mangul S, Wen X, Wang G, Barbeira AN, Garrido-Martín D, Nadel BB, Zou Y, Bonazzola R, Quan J, Brown A, Martinez-Perez A, Soria JM; GTEx Consortium; Getz G, Dermitzakis ET, Small KS, Stephens M, Xi HS, Im HK, Guigó R, Segrè AV, Stranger BE, Ardlie KG, Lappalainen T. Kim-Hellmuth S, et al. Science. 2020 Sep 11;369(6509):eaaz8528. doi: 10.1126/science.aaz8528. Science. 2020. PMID: 32913075 Free PMC article.
Determinants of telomere length across human tissues.
Demanelis K, Jasmine F, Chen LS, Chernoff M, Tong L, Delgado D, Zhang C, Shinkle J, Sabarinathan M, Lin H, Ramirez E, Oliva M, Kim-Hellmuth S, Stranger BE, Lai TP, Aviv A, Ardlie KG, Aguet F, Ahsan H; GTEx Consortium; Doherty JA, Kibriya MG, Pierce BL. Demanelis K, et al. Science. 2020 Sep 11;369(6509):eaaz6876. doi: 10.1126/science.aaz6876. Science. 2020. PMID: 32913074 Free PMC article.
Transcriptomic signatures across human tissues identify functional rare genetic variation.
Ferraro NM, Strober BJ, Einson J, Abell NS, Aguet F, Barbeira AN, Brandt M, Bucan M, Castel SE, Davis JR, Greenwald E, Hess GT, Hilliard AT, Kember RL, Kotis B, Park Y, Peloso G, Ramdas S, Scott AJ, Smail C, Tsang EK, Zekavat SM, Ziosi M, Aradhana; TOPMed Lipids Working Group; Ardlie KG, Assimes TL, Bassik MC, Brown CD, Correa A, Hall I, Im HK, Li X, Natarajan P; GTEx Consortium; Lappalainen T, Mohammadi P, Montgomery SB, Battle A. Ferraro NM, et al. Science. 2020 Sep 11;369(6509):eaaz5900. doi: 10.1126/science.aaz5900. Epub 2020 Sep 10. Science. 2020. PMID: 32913073 Free PMC article.
The impact of sex on gene expression across human tissues.
Oliva M, Muñoz-Aguirre M, Kim-Hellmuth S, Wucher V, Gewirtz ADH, Cotter DJ, Parsana P, Kasela S, Balliu B, Viñuela A, Castel SE, Mohammadi P, Aguet F, Zou Y, Khramtsova EA, Skol AD, Garrido-Martín D, Reverter F, Brown A, Evans P, Gamazon ER, Payne A, Bonazzola R, Barbeira AN, Hamel AR, Martinez-Perez A, Soria JM; GTEx Consortium; Pierce BL, Stephens M, Eskin E, Dermitzakis ET, Segrè AV, Im HK, Engelhardt BE, Ardlie KG, Montgomery SB, Battle AJ, Lappalainen T, Guigó R, Stranger BE. Oliva M, et al. Science. 2020 Sep 11;369(6509):eaba3066. doi: 10.1126/science.aba3066. Science. 2020. PMID: 32913072 Free PMC article.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Diagnosing rare diseases after the exome.
Frésard L, Montgomery SB. Frésard L, et al. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003392. doi: 10.1101/mcs.a003392. Print 2018 Dec. Cold Spring Harb Mol Case Stud. 2018. PMID: 30559314 Free PMC article. Review.
FIRE: functional inference of genetic variants that regulate gene expression.
Ioannidis NM, Davis JR, DeGorter MK, Larson NB, McDonnell SK, French AJ, Battle AJ, Hastie TJ, Thibodeau SN, Montgomery SB, Bustamante CD, Sieh W, Whittemore AS. Ioannidis NM, et al. Bioinformatics. 2017 Dec 15;33(24):3895-3901. doi: 10.1093/bioinformatics/btx534. Bioinformatics. 2017. PMID: 28961785 Free PMC article.
Genetic effects on gene expression across human tissues.
GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Lead analysts:; Laboratory, Data Analysis &Coordinating Center (LDACC):; NIH program management:; Biospecimen collection:; Pathology:; eQTL manuscript working group:; Battle A, Brown CD, Engelhardt BE, Montgomery SB. GTEx Consortium, et al. Nature. 2017 Oct 11;550(7675):204-213. doi: 10.1038/nature24277. Nature. 2017. PMID: 29022597 Free PMC article.
The impact of rare variation on gene expression across tissues.
Li X, Kim Y, Tsang EK, Davis JR, Damani FN, Chiang C, Hess GT, Zappala Z, Strober BJ, Scott AJ, Li A, Ganna A, Bassik MC, Merker JD; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Hall IM, Battle A, Montgomery SB. Li X, et al. Nature. 2017 Oct 11;550(7675):239-243. doi: 10.1038/nature24267. Nature. 2017. PMID: 29022581 Free PMC article.
Current Challenges and New Opportunities for Gene-Environment Interaction Studies of Complex Diseases.
McAllister K, Mechanic LE, Amos C, Aschard H, Blair IA, Chatterjee N, Conti D, Gauderman WJ, Hsu L, Hutter CM, Jankowska MM, Kerr J, Kraft P, Montgomery SB, Mukherjee B, Papanicolaou GJ, Patel CJ, Ritchie MD, Ritz BR, Thomas DC, Wei P, Witte JS. McAllister K, et al. Am J Epidemiol. 2017 Oct 1;186(7):753-761. doi: 10.1093/aje/kwx227. Am J Epidemiol. 2017. PMID: 28978193 Free PMC article.
Population- and individual-specific regulatory variation in Sardinia.
Pala M, Zappala Z, Marongiu M, Li X, Davis JR, Cusano R, Crobu F, Kukurba KR, Gloudemans MJ, Reinier F, Berutti R, Piras MG, Mulas A, Zoledziewska M, Marongiu M, Sorokin EP, Hess GT, Smith KS, Busonero F, Maschio A, Steri M, Sidore C, Sanna S, Fiorillo E, Bassik MC, Sawcer SJ, Battle A, Novembre J, Jones C, Angius A, Abecasis GR, Schlessinger D, Cucca F, Montgomery SB. Pala M, et al. Nat Genet. 2017 May;49(5):700-707. doi: 10.1038/ng.3840. Epub 2017 Apr 10. Nat Genet. 2017. PMID: 28394350 Free PMC article.
The impact of structural variation on human gene expression.
Chiang C, Scott AJ, Davis JR, Tsang EK, Li X, Kim Y, Hadzic T, Damani FN, Ganel L; GTEx Consortium; Montgomery SB, Battle A, Conrad DF, Hall IM. Chiang C, et al. Nat Genet. 2017 May;49(5):692-699. doi: 10.1038/ng.3834. Epub 2017 Apr 3. Nat Genet. 2017. PMID: 28369037 Free PMC article.
PML nuclear bodies contribute to the basal expression of the mTOR inhibitor DDIT4.
Salsman J, Stathakis A, Parker E, Chung D, Anthes LE, Koskowich KL, Lahsaee S, Gaston D, Kukurba KR, Smith KS, Chute IC, Léger D, Frost LD, Montgomery SB, Lewis SM, Eskiw C, Dellaire G. Salsman J, et al. Sci Rep. 2017 Mar 23;7:45038. doi: 10.1038/srep45038. Sci Rep. 2017. PMID: 28332630 Free PMC article.
Impact of the X Chromosome and sex on regulatory variation.
Kukurba KR, Parsana P, Balliu B, Smith KS, Zappala Z, Knowles DA, Favé MJ, Davis JR, Li X, Zhu X, Potash JB, Weissman MM, Shi J, Kundaje A, Levinson DF, Awadalla P, Mostafavi S, Battle A, Montgomery SB. Kukurba KR, et al. Genome Res. 2016 Jun;26(6):768-77. doi: 10.1101/gr.197897.115. Epub 2016 Apr 21. Genome Res. 2016. PMID: 27197214 Free PMC article.
RNA Sequencing and Analysis.
Kukurba KR, Montgomery SB. Kukurba KR, et al. Cold Spring Harb Protoc. 2015 Apr 13;2015(11):951-69. doi: 10.1101/pdb.top084970. Cold Spring Harb Protoc. 2015. PMID: 25870306 Free PMC article.