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Page 1
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.
Landscape of X chromosome inactivation across human tissues.
Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A; 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; Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG. Tukiainen T, et al. Nature. 2017 Oct 11;550(7675):244-248. doi: 10.1038/nature24265. Nature. 2017. PMID: 29022598 Free PMC article.
Current challenges in understanding the role of enhancers in disease.
Zaugg JB, Sahlén P, Andersson R, Alberich-Jorda M, de Laat W, Deplancke B, Ferrer J, Mandrup S, Natoli G, Plewczynski D, Rada-Iglesias A, Spicuglia S. Zaugg JB, et al. Nat Struct Mol Biol. 2022 Dec;29(12):1148-1158. doi: 10.1038/s41594-022-00896-3. Epub 2022 Dec 8. Nat Struct Mol Biol. 2022. PMID: 36482255 Review.
GRaNIE and GRaNPA: inference and evaluation of enhancer-mediated gene regulatory networks.
Kamal A, Arnold C, Claringbould A, Moussa R, Servaas NH, Kholmatov M, Daga N, Nogina D, Mueller-Dott S, Reyes-Palomares A, Palla G, Sigalova O, Bunina D, Pabst C, Zaugg JB. Kamal A, et al. Among authors: zaugg jb. Mol Syst Biol. 2023 Jun 12;19(6):e11627. doi: 10.15252/msb.202311627. Epub 2023 Apr 19. Mol Syst Biol. 2023. PMID: 37073532 Free PMC article.
Transcriptional profiling unveils molecular subgroups of adaptive and maladaptive right ventricular remodeling in pulmonary hypertension.
Khassafi F, Chelladurai P, Valasarajan C, Nayakanti SR, Martineau S, Sommer N, Yokokawa T, Boucherat O, Kamal A, Kiely DG, Swift AJ, Alabed S, Omura J, Breuils-Bonnet S, Kuenne C, Potus F, Günther S, Savai R, Seeger W, Looso M, Lawrie A, Zaugg JB, Tello K, Provencher S, Bonnet S, Pullamsetti SS. Khassafi F, et al. Among authors: zaugg jb. Nat Cardiovasc Res. 2023 Oct;2(10):917-936. doi: 10.1038/s44161-023-00338-3. Epub 2023 Sep 28. Nat Cardiovasc Res. 2023. PMID: 39196250 Free PMC article.
MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention.
Weigel B, Tegethoff JF, Grieder SD, Lim B, Nagarajan B, Liu YC, Truberg J, Papageorgiou D, Adrian-Segarra JM, Schmidt LK, Kaspar J, Poisel E, Heinzelmann E, Saraswat M, Christ M, Arnold C, Ibarra IL, Campos J, Krijgsveld J, Monyer H, Zaugg JB, Acuna C, Mall M. Weigel B, et al. Among authors: zaugg jb. Mol Psychiatry. 2023 May;28(5):2122-2135. doi: 10.1038/s41380-023-01959-7. Epub 2023 Feb 14. Mol Psychiatry. 2023. PMID: 36782060 Free PMC article.
50 results