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Items: 1 to 20 of 95

1.

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL.

Cell. 2018 Feb 22;172(5):952-965.e18. doi: 10.1016/j.cell.2018.02.019.

PMID:
29474921
2.

Research directions in the clinical implementation of pharmacogenomics - An Overview of US programs and projects.

Volpi S, Bult C, Chisholm RL, Deverka PA, Ginsburg GS, Jacob HJ, Kasapi M, McLeod HL, Roden DM, Williams MS, Green ED, Lyman Rodriguez L, Aronson S, Cavallari LH, Denny JC, Dressler L, Johnson JA, Klein TE, Steven Leeder J, Piquette-Miller M, Perera M, Rasmussen-Torvik LJ, Rehm HL, Ritchie MD, Skaar TC, Wagle N, Weinshilboum R, Weitzel KW, Wildin R, Wilson J, Manolio TA, Relling MV.

Clin Pharmacol Ther. 2018 Feb 20. doi: 10.1002/cpt.1048. [Epub ahead of print]

PMID:
29460415
3.

Superior Vena Cava (SVC) Endovascular Reconstruction with Implanted Central Venous Catheter Repositioning for Treatment of Malignant SVC Obstruction.

Volpi S, Doenz F, Qanadli SD.

Front Surg. 2018 Jan 26;5:4. doi: 10.3389/fsurg.2018.00004. eCollection 2018.

4.

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

Caorsi R, Rusmini M, Volpi S, Chiesa S, Pastorino C, Sementa AR, Uva P, Grossi A, Lanino E, Faraci M, Minoia F, Signa S, Picco P, Martini A, Ceccherini I, Gattorno M.

Front Immunol. 2018 Jan 29;8:2015. doi: 10.3389/fimmu.2017.02015. eCollection 2017.

5.

Type I interferon-mediated autoinflammation due to DNase II deficiency.

Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Frémond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, Boddaert N, Brouzes C, Candon S, Caorsi R, Charbit M, Fabre M, Faletra F, Girard M, Harroche A, Hartmann E, Lasne D, Marcuzzi A, Neven B, Nitschke P, Pascreau T, Pastore S, Picard C, Picco P, Piscianz E, Polak M, Quartier P, Rabant M, Stocco G, Taddio A, Uettwiller F, Valencic E, Vozzi D, Hartmann G, Barchet W, Hermine O, Bader-Meunier B, Tommasini A, Crow YJ.

Nat Commun. 2017 Dec 19;8(1):2176. doi: 10.1038/s41467-017-01932-3.

6.

Type I interferon pathway activation in COPA syndrome.

Volpi S, Tsui J, Mariani M, Pastorino C, Caorsi R, Sacco O, Ravelli A, Shum AK, Gattorno M, Picco P.

Clin Immunol. 2017 Oct 10. pii: S1521-6616(17)30688-5. doi: 10.1016/j.clim.2017.10.001. [Epub ahead of print]

PMID:
29030294
7.

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.

Nature. 2017 Oct 11;550(7675):244-248. doi: 10.1038/nature24265.

PMID:
29022598
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.

Dynamic landscape and regulation of RNA editing in mammals.

Tan MH, Li Q, Shanmugam R, Piskol R, Kohler J, Young AN, Liu KI, Zhang R, Ramaswami G, Ariyoshi K, Gupte A, Keegan LP, George CX, Ramu A, Huang N, Pollina EA, Leeman DS, Rustighi A, Goh YPS; 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, Chawla A, Del Sal G, Peltz G, Brunet A, Conrad DF, Samuel CE, O'Connell MA, Walkley CR, Nishikura K, Li JB.

Nature. 2017 Oct 11;550(7675):249-254. doi: 10.1038/nature24041.

10.

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.

PMID:
29022581
11.

Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis.

Yang F, Wang J; GTEx Consortium, Pierce BL, Chen LS.

Genome Res. 2017 Nov;27(11):1859-1871. doi: 10.1101/gr.216754.116. Epub 2017 Oct 11.

PMID:
29021290
12.

Co-expression networks reveal the tissue-specific regulation of transcription and splicing.

Saha A, Kim Y, Gewirtz ADH, Jo B, Gao C, McDowell IC; GTEx Consortium, Engelhardt BE, Battle A.

Genome Res. 2017 Nov;27(11):1843-1858. doi: 10.1101/gr.216721.116. Epub 2017 Oct 11.

13.

Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease.

eGTEx Project.

Nat Genet. 2017 Dec;49(12):1664-1670. doi: 10.1038/ng.3969. Epub 2017 Oct 11.

PMID:
29019975
14.

A three-dimensional model of human lung development and disease from pluripotent stem cells.

Chen YW, Huang SX, de Carvalho ALRT, Ho SH, Islam MN, Volpi S, Notarangelo LD, Ciancanelli M, Casanova JL, Bhattacharya J, Liang AF, Palermo LM, Porotto M, Moscona A, Snoeck HW.

Nat Cell Biol. 2017 May;19(5):542-549. doi: 10.1038/ncb3510. Epub 2017 Apr 24.

15.

Inhaled dry powder mannitol in children with cystic fibrosis: A randomised efficacy and safety trial.

De Boeck K, Haarman E, Hull J, Lands LC, Moeller A, Munck A, Riethmüller J, Tiddens H, Volpi S, Leadbetter J, Charlton B, Malfroot A; DPM-CF-204 Study Group.

J Cyst Fibros. 2017 May;16(3):380-387. doi: 10.1016/j.jcf.2017.02.003. Epub 2017 Mar 1.

PMID:
28258928
16.

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD.

J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1.

17.

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

Melki I, Rose Y, Uggenti C, Van Eyck L, Frémond ML, Kitabayashi N, Rice GI, Jenkinson EM, Boulai A, Jeremiah N, Gattorno M, Volpi S, Sacco O, Terheggen-Lagro SWJ, Tiddens HAWM, Meyts I, Morren MA, De Haes P, Wouters C, Legius E, Corveleyn A, Rieux-Laucat F, Bodemer C, Callebaut I, Rodero MP, Crow YJ.

J Allergy Clin Immunol. 2017 Aug;140(2):543-552.e5. doi: 10.1016/j.jaci.2016.10.031. Epub 2017 Jan 10. Erratum in: J Allergy Clin Immunol. 2017 Dec;140(6):1757.

PMID:
28087229
18.

Phosphoryl Transfer Processes Promoted by a Trifunctional Calix[4]arene Inspired by DNA Topoisomerase I.

Salvio R, Volpi S, Cacciapaglia R, Sansone F, Mandolini L, Casnati A.

J Org Chem. 2016 Oct 7;81(19):9012-9019. Epub 2016 Sep 14.

PMID:
27579493
19.

Type I interferonopathies in pediatric rheumatology.

Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M.

Pediatr Rheumatol Online J. 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. Review.

20.

Upper Rim Bifunctional cone-Calix[4]arenes Based on a Ligated Metal Ion and a Guanidinium Unit as DNAase and RNAase Mimics.

Salvio R, Volpi S, Cacciapaglia R, Sansone F, Mandolini L, Casnati A.

J Org Chem. 2016 Jun 3;81(11):4728-35. doi: 10.1021/acs.joc.6b00644. Epub 2016 May 17.

PMID:
27135962

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