Publication > Page 50
  • Annals of the Rheumatic Diseases  ·  October 7, 2020

    Machine learning integration of scleroderma histology and gene expression identifies fibroblast polarisation as a hallmark of clinical severity and improvement.

    Showalter K, Spiera R, Magro C, Agius P, Martyanov V, Franks JM, Sharma R, Geiger H, Wood TA, Zhang Y, Hale CR, Finik J, Whitfield ML, Orange DE, Gordon JK.

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  • Cell  ·  October 1, 2020

    Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs.

    Kevin Hadi, Xiaotong Yao, Julie M. Behr, Aditya Deshpande, Charalampos Xanthopoulakis, Huasong Tian,Sarah Kudman, Joel Rosiene, Madison Darmofal, Joseph DeRose, Rick Mortensen, Emily M. Adney, Alon Shaiber, Zoran Gajic, Michael Sigouros, Kenneth Eng, Jeremiah A. Wala, Kazimierz O. Wrzeszczynski Kanika Arora, Minita Shah, Anne-Katrin Emde, Vanessa Felice, Mayu O. Frank, Robert B. Darnell, Mahmoud Ghandi, Franklin Huang, Sally Dewhurst, John Maciejowski,Titia de Lange, Jeremy Setton, Nadeem Riaz, Jorge S. Reis-Filho, Simon Powell, David A. Knowles, Ed Reznik, Bud Mishra, Rameen Beroukhim, Michael C. Zody, Nicolas Robine, Kenji M. Oman, Carissa A. Sanchez, Mary K. Kuhner, Lucian P. Smith, Patricia C. Galipeau, Thomas G. Paulson, Brian J. Reid, Xiaohong Li, David Wilkes, Andrea Sboner,Juan Miguel Mosquera, Olivier Elemento, and Marcin Imielinski

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  • Am J Respir Crit Care Med  ·  September 23, 2020

    Mapping the 17q12-21.1 Locus for Variants Associated with Early-Onset Asthma in African Americans.

    Gui H, Levin AM, Hu D, Sleiman P, Xiao S, Mak AC, Yang M, Barczak AJ, Huntsman S, Eng C, Hochstadt S, Zhang E, Whitehouse K, Simons S, Cabral W, Takriti S, Abecasis G, Blackwell TW, Kang HM, Nickerson DA, Germer S, Lanfear DE, Gilliland F, Gauderman WJ, Kumar R, Erle DJ, Martinez FD, Hakonarson H, Burchard EG, Williams LK.

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  • Science  ·  September 24, 2020

    Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

    Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D’Angio M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Gallego CR, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact Cohort; Amsterdam UMC Covid-19; Biobank; COVID Human Genetic Effort; NIAID-USUHS; TAGC COVID Immunity Group, Snow AL, Dalgard CL, Milner J, Vinh DC, Mogensen TH, Marr N, Spaan AN, Boisson B, Boisson-Dupuis S, Bustamante J, Puel A, Ciancanelli M, Meyts I, Maniatis T, Soumelis V, Amara A, Nussenzweig M, García-Sastre A, Krammer F, Pujol A, Duffy D, Lifton R, Zhang SY, Gorochov G, Béziat V, Jouanguy E, Sancho-Shimizu V, Rice CM, Abel L, Notarangelo LD, Cobat A, Su HC, Casanova JL.

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  • Genome Biology  ·  September 11, 2020

    A vast resource of allelic expression data spanning human tissues.

    Stephane E. Castel, François Aguet, Pejman Mohammadi, GTEx Consortium, Kristin G. Ardlie, Tuuli Lappalainen

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  • Science  ·  September 11, 2020

    Transcriptomic signatures across human tissues identify functional rare genetic variation.

    Nicole M. Ferraro, Benjamin J. Strober, Jonah Einson, Xin Li, Francois Aguet, Alvaro N. Barbeira, Stephane E. Castel, Joe R. Davis, Austin T. Hilliard, Bence Kotis, YoSon Park, Alexandra J. Scott, Craig Smail, Emily K. Tsang, Kristin G. Ardlie, Themistocles L. Assimes, Ira Hall, Hae Kyung Im, GTEx Consortium, Tuuli Lappalainen, Pejman Mohammadi, Stephen B. Montgomery, Alexis Battle

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  • Genome Medicine  ·  September 11, 2020

    A polyclonal allelic expression assay for detecting regulatory effects of transcript variants

    Margot Brandt, Alper Gokden, Marcello Ziosi, Tuuli Lappalainen.

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  • Genome Biology  ·  September 11, 2020

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

    Nicole R Gay, Michael Gloudemans, Margaret L. L. Antonio, Brunilda Balliu, YoSon Park, Alicia R. Martin, Shaila Musharoff, Abhiram Rao, François Aguet, Alvaro Barbeira, Rodrigo Bonazzola, Farhad Hormozdiari, GTEx Consortium, Kristin G. Ardlie, Christopher D. Brown, Hae Kyung Im, Tuuli Lappalainen, Xiaoquan Wen, Stephen B. Montgomery
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  • Science  ·  September 11, 2020

    The GTEx Consortium atlas of genetic regulatory effects across human tissues.

    The GTEx Consortium (Corresponding authors: François Aguet, Kristin G. Ardlie, Tuuli Lappalainen)
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