Works matching IS 1756994X AND DT 2018 AND VI 10 AND IP 1

Results: 73
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    Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0607-5
    By:
    • Kim, Jung;
    • Frone, Megan N.;
    • Gianferante, Matthew;
    • Khincha, Payal;
    • McMaster, Mary L.;
    • McReynolds, Lisa J.;
    • Pemov, Alexander;
    • Pinheiro, Maisa;
    • Alter, Blanche P.;
    • Gadalla, Shahinaz M.;
    • Greene, Mark H.;
    • Loud, Jennifer;
    • Mirabello, Lisa J.;
    • Savage, Sharon A.;
    • Goldstein, Alisa M.;
    • Stewart, Douglas R.;
    • Wegman-Ostrosky, Talia;
    • Achatz, Maria I.;
    • de Andrade, Kelvin C.;
    • Fortes, Fernanda P.
    Publication type:
    Article
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    Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0604-8
    By:
    • Kerick, Martin;
    • Martín, Javier;
    • Márquez, Ana;
    • Mayes, Maureen D.;
    • Raychaudhuri, Soumya;
    • Zhernakova, Alexandra;
    • Wijmenga, Cisca;
    • Gutierrez-Achury, Javier;
    • Chen, Wei-Min;
    • Onengut-Gumuscu, Suna;
    • Rich, Stephen S.;
    • González-Álvaro, Isidoro;
    • Rodriguez-Rodriguez, Luis;
    • Rios-Fernández, Raquel;
    • González-Gay, Miguel A.
    Publication type:
    Article
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    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0606-6
    By:
    • Sanchis-Juan, Alba;
    • Stephens, Jonathan;
    • Gleadall, Nicholas;
    • Mégy, Karyn;
    • Penkett, Christopher;
    • Shamardina, Olga;
    • Stirrups, Kathleen;
    • Dewhurst, Eleanor;
    • Dolling, Helen;
    • Erwood, Marie;
    • Ouwehand, Willem H.;
    • Carss, Keren J.;
    • Stefanucci, Luca;
    • Cole, Trevor;
    • Raymond, F. Lucy;
    • French, Courtney E.;
    • Delon, Isabelle;
    • Austin, Topun;
    • Branco, Ricardo Garcia;
    • Grozeva, Detelina
    Publication type:
    Article
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    Time series analysis of neoadjuvant chemotherapy and bevacizumab-treated breast carcinomas reveals a systemic shift in genomic aberrations.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0601-y
    By:
    • Höglander, Elen Kristine;
    • Nord, Silje;
    • Wedge, David C.;
    • Lingjærde, Ole Christian;
    • Silwal-Pandit, Laxmi;
    • Gythfeldt, Hedda vdL;
    • Vollan, Hans Kristian Moen;
    • Fleischer, Thomas;
    • Krohn, Marit;
    • Schlitchting, Ellen;
    • Borgen, Elin;
    • Garred, Øystein;
    • Holmen, Marit M.;
    • Wist, Erik;
    • Naume, Bjørn;
    • Van Loo, Peter;
    • Børresen-Dale, Anne-Lise;
    • Engebraaten, Olav;
    • Kristensen, Vessela
    Publication type:
    Article
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    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. 1, doi. 10.1186/s13073-018-0582-x
    By:
    • Normand, Elizabeth A.;
    • Braxton, Alicia;
    • Nassef, Salma;
    • Ward, Patricia A.;
    • Vetrini, Francesco;
    • He, Weimin;
    • Patel, Vipulkumar;
    • Qu, Chunjing;
    • Westerfield, Lauren E.;
    • Stover, Samantha;
    • Dharmadhikari, Avinash V.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Dai, Hongzheng;
    • Meng, Linyan;
    • Wang, Xia;
    • Xiao, Rui;
    • Liu, Pengfei;
    • Bi, Weimin;
    • Xia, Fan
    Publication type:
    Article
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    Cell-free DNA profiling of metastatic prostate cancer reveals microsatellite instability, structural rearrangements and clonal hematopoiesis.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0595-5
    By:
    • Mayrhofer, Markus;
    • Whitington, Tom;
    • Aly, Markus;
    • Nordström, Tobias;
    • Rantalainen, Mattias;
    • Grönberg, Henrik;
    • De Laere, Bram;
    • De Maeseneer, Daan;
    • Van den Eynden, Gert;
    • Rutten, Annemie;
    • Rajan, Prabhakar;
    • Egevad, Lars;
    • Ullén, Anders;
    • Yachnin, Jeffrey;
    • Lindberg, Johan;
    • Oeyen, Steffi;
    • van Dam, Pieter-Jan;
    • Van Laere, Steven;
    • Dirix, Luc;
    • Van Oyen, Peter
    Publication type:
    Article
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    Whole-genome epidemiology, characterisation, and phylogenetic reconstruction of Staphylococcus aureus strains in a paediatric hospital.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0593-7
    By:
    • Manara, Serena;
    • Pasolli, Edoardo;
    • Armanini, Federica;
    • Asnicar, Francesco;
    • Grandi, Guido;
    • Segata, Nicola;
    • Dolce, Daniela;
    • Ravenni, Novella;
    • Campana, Silvia;
    • Taccetti, Giovanni;
    • Mengoni, Alessio;
    • Galli, Luisa;
    • Montagnani, Carlotta;
    • Venturini, Elisabetta;
    • Rota-Stabelli, Omar
    Publication type:
    Article
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    Distinct microbes, metabolites, and ecologies define the microbiome in deficient and proficient mismatch repair colorectal cancers.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0586-6
    By:
    • Hale, Vanessa L.;
    • Jeraldo, Patricio;
    • Chen, Jun;
    • Mundy, Michael;
    • Yao, Janet;
    • Priya, Sambhawa;
    • Keeney, Gary;
    • Lyke, Kelly;
    • Ridlon, Jason;
    • White, Bryan A.;
    • French, Amy J.;
    • Thibodeau, Stephen N.;
    • Diener, Christian;
    • Resendis-Antonio, Osbaldo;
    • Gransee, Jaime;
    • Dutta, Tumpa;
    • Petterson, Xuan-Mai;
    • Sung, Jaeyun;
    • Blekhman, Ran;
    • Boardman, Lisa
    Publication type:
    Article
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    Exploring the pre-immune landscape of antigen-specific T cells.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0577-7
    By:
    • Pogorelyy, Mikhail V.;
    • Fedorova, Alla D.;
    • Mclaren, James E.;
    • Ladell, Kristin;
    • Bagaev, Dmitri V.;
    • Eliseev, Alexey V.;
    • Mikelov, Artem I.;
    • Koneva, Anna E.;
    • Zvyagin, Ivan V.;
    • Price, David A.;
    • Chudakov, Dmitry M.;
    • Shugay, Mikhail
    Publication type:
    Article
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    T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiency.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0580-z
    By:
    • Clarke, Erik L.;
    • Connell, A. Jesse;
    • Six, Emmanuelle;
    • Kadry, Nadia A.;
    • Abbas, Arwa A.;
    • Hwang, Young;
    • Everett, John K.;
    • Hofstaedter, Casey E.;
    • Marsh, Rebecca;
    • Armant, Myriam;
    • Kelsen, Judith;
    • Notarangelo, Luigi D.;
    • Collman, Ronald G.;
    • Hacein-Bey-Abina, Salima;
    • Kohn, Donald B.;
    • Cavazzana, Marina;
    • Fischer, Alain;
    • Williams, David A.;
    • Pai, Sung-Yun;
    • Bushman, Frederic D.
    Publication type:
    Article
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    Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0566-x
    By:
    • Zhu, Na;
    • Welch, Carrie L.;
    • Wang, Jiayao;
    • Allen, Philip M.;
    • Gonzaga-Jauregui, Claudia;
    • Ma, Lijiang;
    • King, Alejandra K.;
    • Krishnan, Usha;
    • Rosenzweig, Erika B.;
    • Ivy, D. Dunbar;
    • Austin, Eric D.;
    • Hamid, Rizwan;
    • Pauciulo, Michael W.;
    • Lutz, Katie A.;
    • Nichols, William C.;
    • Reid, Jeffrey G.;
    • Overton, John D.;
    • Baras, Aris;
    • Dewey, Frederick E.;
    • Shen, Yufeng
    Publication type:
    Article
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    Integrative omics analyses broaden treatment targets in human cancer.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0564-z
    By:
    • Sengupta, Sohini;
    • Sun, Sam Q.;
    • Huang, Kuan-lin;
    • Oh, Clara;
    • Bailey, Matthew H.;
    • Varghese, Rajees;
    • Wyczalkowski, Matthew A.;
    • Ning, Jie;
    • Tripathi, Piyush;
    • McMichael, Joshua F.;
    • Johnson, Kimberly J.;
    • Kandoth, Cyriac;
    • Welch, John;
    • Ma, Cynthia;
    • Wendl, Michael C.;
    • Payne, Samuel H.;
    • Fenyö, David;
    • Townsend, Reid R.;
    • Dipersio, John F.;
    • Chen, Feng
    Publication type:
    Article
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    Single-cell transcriptome analysis of lineage diversity in high-grade glioma.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0567-9
    By:
    • Yuan, Jinzhou;
    • Levitin, Hanna Mendes;
    • Frattini, Veronique;
    • Bush, Erin C.;
    • Boyett, Deborah M.;
    • Samanamud, Jorge;
    • Ceccarelli, Michele;
    • Dovas, Athanassios;
    • Zanazzi, George;
    • Canoll, Peter;
    • Bruce, Jeffrey N.;
    • Lasorella, Anna;
    • Iavarone, Antonio;
    • Sims, Peter A.
    Publication type:
    Article
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    A genome-wide siRNA screen identifies a druggable host pathway essential for the Ebola virus life cycle.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0570-1
    By:
    • Martin, Scott;
    • Chiramel, Abhilash I.;
    • Schmidt, Marie Luisa;
    • Chen, Yu-Chi;
    • Whitt, Nadia;
    • Watt, Ari;
    • Dunham, Eric C.;
    • Shifflett, Kyle;
    • Traeger, Shelby;
    • Leske, Anne;
    • Buehler, Eugen;
    • Martellaro, Cynthia;
    • Brandt, Janine;
    • Wendt, Lisa;
    • Müller, Andreas;
    • Peitsch, Stephanie;
    • Best, Sonja M.;
    • Stech, Jürgen;
    • Finke, Stefan;
    • Römer-Oberdörfer, Angela
    Publication type:
    Article
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    Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0568-8
    By:
    • Scepanovic, Petar;
    • Alanio, Cécile;
    • Hammer, Christian;
    • Hodel, Flavia;
    • Bergstedt, Jacob;
    • Patin, Etienne;
    • Thorball, Christian W.;
    • Chaturvedi, Nimisha;
    • Charbit, Bruno;
    • Abel, Laurent;
    • Quintana-Murci, Lluis;
    • Duffy, Darragh;
    • Albert, Matthew L.;
    • Fellay, Jacques;
    • for The Milieu Intérieur Consortium
    Publication type:
    Article
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