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Items: 1 to 50 of 123

1.

Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus.

Nanda V, Wang T, Pjanic M, Liu B, Nguyen T, Matic LP, Hedin U, Koplev S, Ma L, Franzén O, Ruusalepp A, Schadt EE, Björkegren JLM, Montgomery SB, Snyder MP, Quertermous T, Leeper NJ, Miller CL.

PLoS Genet. 2018 Nov 16;14(11):e1007755. doi: 10.1371/journal.pgen.1007755. eCollection 2018 Nov.

2.

Proficiency Testing of Standardized Samples Shows Very High Interlaboratory Agreement for Clinical Next-Generation Sequencing-Based Oncology Assays.

Merker JD, Devereaux K, Iafrate AJ, Kamel-Reid S, Kim AS, Moncur JT, Montgomery SB, Nagarajan R, Portier BP, Routbort MJ, Smail C, Surrey LF, Vasalos P, Lazar AJ, Lindeman NI.

Arch Pathol Lab Med. 2018 Oct 30. doi: 10.5858/arpa.2018-0336-CP. [Epub ahead of print]

PMID:
30376374
3.

Genetic Regulatory Mechanisms of Smooth Muscle Cells Map to Coronary Artery Disease Risk Loci.

Liu B, Pjanic M, Wang T, Nguyen T, Gloudemans M, Rao A, Castano VG, Nurnberg S, Rader DJ, Elwyn S, Ingelsson E, Montgomery SB, Miller CL, Quertermous T.

Am J Hum Genet. 2018 Sep 6;103(3):377-388. doi: 10.1016/j.ajhg.2018.08.001. Epub 2018 Aug 23.

PMID:
30146127
4.

Large-Scale Phenome-Wide Association Study of PCSK9 Variants Demonstrates Protection Against Ischemic Stroke.

Rao AS, Lindholm D, Rivas MA, Knowles JW, Montgomery SB, Ingelsson E.

Circ Genom Precis Med. 2018 Jul;11(7):e002162. doi: 10.1161/CIRCGEN.118.002162.

PMID:
29997226
5.

Recurrently Mutated Genes Differ between Leptomeningeal and Solid Lung Cancer Brain Metastases.

Li Y, Liu B, Connolly ID, Kakusa BW, Pan W, Nagpal S, Montgomery SB, Hayden Gephart M.

J Thorac Oncol. 2018 Jul;13(7):1022-1027. doi: 10.1016/j.jtho.2018.03.018. Epub 2018 Mar 29.

PMID:
29604399
6.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT.

Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.

7.

Cohort-specific imputation of gene expression improves prediction of warfarin dose for African Americans.

Gottlieb A, Daneshjou R, DeGorter M, Bourgeois S, Svensson PJ, Wadelius M, Deloukas P, Montgomery SB, Altman RB.

Genome Med. 2017 Nov 24;9(1):98. doi: 10.1186/s13073-017-0495-0.

8.

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.

Nature. 2017 Oct 11;550(7675):204-213. doi: 10.1038/nature24277. Erratum in: Nature. 2017 Dec 20;:.

9.

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.

Nature. 2017 Oct 11;550(7675):239-243. doi: 10.1038/nature24267.

10.

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.

Am J Epidemiol. 2017 Oct 1;186(7):753-761. doi: 10.1093/aje/kwx227.

11.

Incorporation of Biological Knowledge Into the Study of Gene-Environment Interactions.

Ritchie MD, Davis JR, Aschard H, Battle A, Conti D, Du M, Eskin E, Fallin MD, Hsu L, Kraft P, Moore JH, Pierce BL, Bien SA, Thomas DC, Wei P, Montgomery SB.

Am J Epidemiol. 2017 Oct 1;186(7):771-777. doi: 10.1093/aje/kwx229.

12.

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.

Bioinformatics. 2017 Dec 15;33(24):3895-3901. doi: 10.1093/bioinformatics/btx534.

PMID:
28961785
13.

Long-read genome sequencing identifies causal structural variation in a Mendelian disease.

Merker JD, Wenger AM, Sneddon T, Grove M, Zappala Z, Fresard L, Waggott D, Utiramerur S, Hou Y, Smith KS, Montgomery SB, Wheeler M, Buchan JG, Lambert CC, Eng KS, Hickey L, Korlach J, Ford J, Ashley EA.

Genet Med. 2018 Jan;20(1):159-163. doi: 10.1038/gim.2017.86. Epub 2017 Jun 22.

14.

Allele-specific expression reveals interactions between genetic variation and environment.

Knowles DA, Davis JR, Edgington H, Raj A, Favé MJ, Zhu X, Potash JB, Weissman MM, Shi J, Levinson DF, Awadalla P, Mostafavi S, Montgomery SB, Battle A.

Nat Methods. 2017 Jul;14(7):699-702. doi: 10.1038/nmeth.4298. Epub 2017 May 22.

15.

Overexpression of the Cytokine BAFF and Autoimmunity Risk.

Steri M, Orrù V, Idda ML, Pitzalis M, Pala M, Zara I, Sidore C, Faà V, Floris M, Deiana M, Asunis I, Porcu E, Mulas A, Piras MG, Lobina M, Lai S, Marongiu M, Serra V, Marongiu M, Sole G, Busonero F, Maschio A, Cusano R, Cuccuru G, Deidda F, Poddie F, Farina G, Dei M, Virdis F, Olla S, Satta MA, Pani M, Delitala A, Cocco E, Frau J, Coghe G, Lorefice L, Fenu G, Ferrigno P, Ban M, Barizzone N, Leone M, Guerini FR, Piga M, Firinu D, Kockum I, Lima Bomfim I, Olsson T, Alfredsson L, Suarez A, Carreira PE, Castillo-Palma MJ, Marcus JH, Congia M, Angius A, Melis M, Gonzalez A, Alarcón Riquelme ME, da Silva BM, Marchini M, Danieli MG, Del Giacco S, Mathieu A, Pani A, Montgomery SB, Rosati G, Hillert J, Sawcer S, D'Alfonso S, Todd JA, Novembre J, Abecasis GR, Whalen MB, Marrosu MG, Meloni A, Sanna S, Gorospe M, Schlessinger D, Fiorillo E, Zoledziewska M, Cucca F.

N Engl J Med. 2017 Apr 27;376(17):1615-1626. doi: 10.1056/NEJMoa1610528.

16.

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.

Nat Genet. 2017 May;49(5):700-707. doi: 10.1038/ng.3840. Epub 2017 Apr 10.

17.

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.

Nat Genet. 2017 May;49(5):692-699. doi: 10.1038/ng.3834. Epub 2017 Apr 3.

18.

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.

Sci Rep. 2017 Mar 23;7:45038. doi: 10.1038/srep45038.

19.

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

Kernohan KD, Frésard L, Zappala Z, Hartley T, Smith KS, Wagner J, Xu H, McBride A, Bourque PR, Consortium CRC, Bennett SAL, Dyment DA, Boycott KM, Montgomery SB, Warman Chardon J.

Hum Mutat. 2017 Jun;38(6):611-614. doi: 10.1002/humu.23211. Epub 2017 Mar 28.

20.

Non-Coding Loss-of-Function Variation in Human Genomes.

Zappala Z, Montgomery SB.

Hum Hered. 2016;81(2):78-87. doi: 10.1159/000447453. Epub 2017 Jan 12. Review.

21.

A TNFRSF14-FcɛRI-mast cell pathway contributes to development of multiple features of asthma pathology in mice.

Sibilano R, Gaudenzio N, DeGorter MK, Reber LL, Hernandez JD, Starkl PM, Zurek OW, Tsai M, Zahner S, Montgomery SB, Roers A, Kronenberg M, Yu M, Galli SJ.

Nat Commun. 2016 Dec 16;7:13696. doi: 10.1038/ncomms13696.

22.

Mindfulness-Based Intervention for Perinatal Grief in Rural India: Improved Mental Health at 12 Months Follow-Up.

Roberts LR, Montgomery SB.

Issues Ment Health Nurs. 2016 Dec;37(12):942-951. Epub 2016 Dec 2.

PMID:
27911141
23.

Small RNA Sequencing in Cells and Exosomes Identifies eQTLs and 14q32 as a Region of Active Export.

Tsang EK, Abell NS, Li X, Anaya V, Karczewski KJ, Knowles DA, Sierra RG, Smith KS, Montgomery SB.

G3 (Bethesda). 2017 Jan 5;7(1):31-39. doi: 10.1534/g3.116.036137.

24.

Directed evolution using dCas9-targeted somatic hypermutation in mammalian cells.

Hess GT, Frésard L, Han K, Lee CH, Li A, Cimprich KA, Montgomery SB, Bassik MC.

Nat Methods. 2016 Dec;13(12):1036-1042. doi: 10.1038/nmeth.4038. Epub 2016 Oct 31.

25.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ.

Am J Hum Genet. 2016 Sep 1;99(3):555-566. doi: 10.1016/j.ajhg.2016.06.032. Epub 2016 Aug 25.

26.

Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci.

Miller CL, Pjanic M, Wang T, Nguyen T, Cohain A, Lee JD, Perisic L, Hedin U, Kundu RK, Majmudar D, Kim JB, Wang O, Betsholtz C, Ruusalepp A, Franzén O, Assimes TL, Montgomery SB, Schadt EE, Björkegren JL, Quertermous T.

Nat Commun. 2016 Jul 8;7:12092. doi: 10.1038/ncomms12092.

27.

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.

Genome Res. 2016 Jun;26(6):768-77. doi: 10.1101/gr.197897.115. Epub 2016 Apr 21.

28.

Exploring Experiences and Perceptions of Aging and Cognitive Decline Across Diverse Racial and Ethnic Groups.

Roberts LR, Schuh H, Sherzai D, Belliard JC, Montgomery SB.

Gerontol Geriatr Med. 2015 Jan-Dec;1. pii: 2333721415596101. Epub 2015 Jul 16.

29.

An Efficient Multiple-Testing Adjustment for eQTL Studies that Accounts for Linkage Disequilibrium between Variants.

Davis JR, Fresard L, Knowles DA, Pala M, Bustamante CD, Battle A, Montgomery SB.

Am J Hum Genet. 2016 Jan 7;98(1):216-24. doi: 10.1016/j.ajhg.2015.11.021. Epub 2015 Dec 31.

30.

India's Distorted Sex Ratio: Dire Consequences for Girls.

Roberts LR, Montgomery SB.

J Christ Nurs. 2016 Jan-Mar;33(1):E7-E15. doi: 10.1097/CNJ.0000000000000244.

31.

Depression, a Hidden Mental Health Disparity in an Asian Indian Immigrant Community.

Roberts LR, Mann SK, Montgomery SB.

Int J Environ Res Public Health. 2015 Dec 23;13(1):ijerph13010027. doi: 10.3390/ijerph13010027.

32.

Exploring Demographic and Substance Use Correlates of Hookah Use in a Sample of Southern California Community College Students.

Montgomery SB, De Borba-Silva M, Singh P, Dos Santos H, Job JS, Brink TL.

Calif J Health Promot. 2015;13(1):26-37.

33.

Mental Health and Sociocultural Determinants in an Asian Indian Community.

Roberts LR, Mann SK, Montgomery SB.

Fam Community Health. 2016 Jan-Mar;39(1):31-9. doi: 10.1097/FCH.0000000000000087.

34.

ORegAnno 3.0: a community-driven resource for curated regulatory annotation.

Lesurf R, Cotto KC, Wang G, Griffith M, Kasaian K, Jones SJ, Montgomery SB, Griffith OL; Open Regulatory Annotation Consortium.

Nucleic Acids Res. 2016 Jan 4;44(D1):D126-32. doi: 10.1093/nar/gkv1203. Epub 2015 Nov 17.

35.

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.

Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J; GTEx Consortium; Geuvadis Consortium, Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG.

Science. 2015 May 8;348(6235):666-9. doi: 10.1126/science.1261877.

36.

The landscape of genomic imprinting across diverse adult human tissues.

Baran Y, Subramaniam M, Biton A, Tukiainen T, Tsang EK, Rivas MA, Pirinen M, Gutierrez-Arcelus M, Smith KS, Kukurba KR, Zhang R, Eng C, Torgerson DG, Urbanek C; GTEx Consortium, Li JB, Rodriguez-Santana JR, Burchard EG, Seibold MA, MacArthur DG, Montgomery SB, Zaitlen NA, Lappalainen T.

Genome Res. 2015 Jul;25(7):927-36. doi: 10.1101/gr.192278.115. Epub 2015 May 7.

37.

Mindfulness-based Intervention for Perinatal Grief after Stillbirth in Rural India.

Roberts LR, Montgomery SB.

Issues Ment Health Nurs. 2015 Mar;36(3):222-30. doi: 10.3109/01612840.2014.962676.

38.

RNA Sequencing and Analysis.

Kukurba KR, Montgomery SB.

Cold Spring Harb Protoc. 2015 Apr 13;2015(11):951-69. doi: 10.1101/pdb.top084970.

39.

Genetic conflict reflected in tissue-specific maps of genomic imprinting in human and mouse.

Babak T, DeVeale B, Tsang EK, Zhou Y, Li X, Smith KS, Kukurba KR, Zhang R, Li JB, van der Kooy D, Montgomery SB, Fraser HB.

Nat Genet. 2015 May;47(5):544-9. doi: 10.1038/ng.3274. Epub 2015 Apr 13.

40.

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.

Gutierrez-Arcelus M, Ongen H, Lappalainen T, Montgomery SB, Buil A, Yurovsky A, Bryois J, Padioleau I, Romano L, Planchon A, Falconnet E, Bielser D, Gagnebin M, Giger T, Borel C, Letourneau A, Makrythanasis P, Guipponi M, Gehrig C, Antonarakis SE, Dermitzakis ET.

PLoS Genet. 2015 Jan 29;11(1):e1004958. doi: 10.1371/journal.pgen.1004958. eCollection 2015 Jan.

41.

High-resolution transcriptome analysis with long-read RNA sequencing.

Cho H, Davis J, Li X, Smith KS, Battle A, Montgomery SB.

PLoS One. 2014 Sep 24;9(9):e108095. doi: 10.1371/journal.pone.0108095. eCollection 2014.

42.

Does Insurance Matter? Implementing Dialectical Behavior Therapy with Two Groups of Youth Engaged in Deliberate Self-harm.

James S, Freeman KR, Mayo D, Riggs ML, Morgan JP, Schaepper MA, Montgomery SB.

Adm Policy Ment Health. 2015 Jul;42(4):449-61. doi: 10.1007/s10488-014-0588-7.

43.

Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants.

Li X, Battle A, Karczewski KJ, Zappala Z, Knowles DA, Smith KS, Kukurba KR, Wu E, Simon N, Montgomery SB.

Am J Hum Genet. 2014 Sep 4;95(3):245-56. doi: 10.1016/j.ajhg.2014.08.004.

44.

Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture.

Martin AR, Costa HA, Lappalainen T, Henn BM, Kidd JM, Yee MC, Grubert F, Cann HM, Snyder M, Montgomery SB, Bustamante CD.

PLoS Genet. 2014 Aug 14;10(8):e1004549. doi: 10.1371/journal.pgen.1004549. eCollection 2014 Aug.

45.

Cis and trans effects of human genomic variants on gene expression.

Bryois J, Buil A, Evans DM, Kemp JP, Montgomery SB, Conrad DF, Ho KM, Ring S, Hurles M, Deloukas P, Davey Smith G, Dermitzakis ET.

PLoS Genet. 2014 Jul 10;10(7):e1004461. doi: 10.1371/journal.pgen.1004461. eCollection 2014 Jul.

46.

Transcriptome analysis reveals differential splicing events in IPF lung tissue.

Nance T, Smith KS, Anaya V, Richardson R, Ho L, Pala M, Mostafavi S, Battle A, Feghali-Bostwick C, Rosen G, Montgomery SB.

PLoS One. 2014 May 7;9(5):e97550. doi: 10.1371/journal.pone.0097550. eCollection 2014. Erratum in: PLoS One. 2014;9(5):e97392.

47.

Allelic expression of deleterious protein-coding variants across human tissues.

Kukurba KR, Zhang R, Li X, Smith KS, Knowles DA, How Tan M, Piskol R, Lek M, Snyder M, Macarthur DG, Li JB, Montgomery SB.

PLoS Genet. 2014 May 1;10(5):e1004304. doi: 10.1371/journal.pgen.1004304. eCollection 2014 May.

48.

Determining causality and consequence of expression quantitative trait loci.

Battle A, Montgomery SB.

Hum Genet. 2014 Jun;133(6):727-35. doi: 10.1007/s00439-014-1446-0. Epub 2014 Apr 26. Review.

49.

Recruiting and motivating black subjects to complete a lengthy survey in a large cohort study: an exploration of different strategies.

Herring P, Butler T, Hall S, Bennett H, Montgomery SB, Fraser G.

BMC Med Res Methodol. 2014 Apr 3;14:46. doi: 10.1186/1471-2288-14-46.

50.

Transcriptome analysis reveals differential splicing events in IPF lung tissue.

Nance T, Smith KS, Anaya V, Richardson R, Ho L, Pala M, Mostafavi S, Battle A, Feghali-Bostwick C, Rosen G, Montgomery SB.

PLoS One. 2014 Mar 19;9(3):e92111. doi: 10.1371/journal.pone.0092111. eCollection 2014.

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