Works matching IS 1756994X AND DT 2019

Results: 93
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    Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.

    Published in:
    Genome Medicine, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0690-2
    By:
    • Brnich, Sarah E.;
    • Abou Tayoun, Ahmad N.;
    • Couch, Fergus J.;
    • Cutting, Garry R.;
    • Greenblatt, Marc S.;
    • Heinen, Christopher D.;
    • Kanavy, Dona M.;
    • Luo, Xi;
    • McNulty, Shannon M.;
    • Starita, Lea M.;
    • Tavtigian, Sean V.;
    • Wright, Matt W.;
    • Harrison, Steven M.;
    • Biesecker, Leslie G.;
    • Berg, Jonathan S.;
    • On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group;
    • Brenner, Steven E.;
    • Ellard, Sian;
    • Karbassi, Izabela;
    • Karchin, Rachel
    Publication type:
    Article
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    Neoantigen-specific immunity in low mutation burden colorectal cancers of the consensus molecular subtype 4.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0697-8
    By:
    • van den Bulk, Jitske;
    • Verdegaal, Els M. E.;
    • Ruano, Dina;
    • Ijsselsteijn, Marieke E.;
    • Visser, Marten;
    • van der Breggen, Ruud;
    • Duhen, Thomas;
    • van der Ploeg, Manon;
    • de Vries, Natasja L.;
    • Oosting, Jan;
    • Peeters, Koen C. M. J.;
    • Weinberg, Andrew D.;
    • Farina-Sarasqueta, Arantza;
    • van der Burg, Sjoerd H.;
    • de Miranda, Noel F. C. C.
    Publication type:
    Article
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    An epigenome-wide association study of sex-specific chronological ageing.

    Published in:
    Genome Medicine, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0693-z
    By:
    • McCartney, Daniel L.;
    • Zhang, Futao;
    • Hillary, Robert F.;
    • Zhang, Qian;
    • Stevenson, Anna J.;
    • Walker, Rosie M.;
    • Bermingham, Mairead L.;
    • Boutin, Thibaud;
    • Morris, Stewart W.;
    • Campbell, Archie;
    • Murray, Alison D.;
    • Whalley, Heather C.;
    • Porteous, David J.;
    • Hayward, Caroline;
    • Evans, Kathryn L.;
    • Chandra, Tamir;
    • Deary, Ian J.;
    • McIntosh, Andrew M.;
    • Yang, Jian;
    • Visscher, Peter M.
    Publication type:
    Article
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    Digital twins to personalize medicine.

    Published in:
    Genome Medicine, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0701-3
    By:
    • Björnsson, Bergthor;
    • Borrebaeck, Carl;
    • Elander, Nils;
    • Gasslander, Thomas;
    • Gawel, Danuta R.;
    • Gustafsson, Mika;
    • Jörnsten, Rebecka;
    • Lee, Eun Jung;
    • Li, Xinxiu;
    • Lilja, Sandra;
    • Martínez-Enguita, David;
    • Matussek, Andreas;
    • Sandström, Per;
    • Schäfer, Samuel;
    • Stenmarker, Margaretha;
    • Sun, X. F.;
    • Sysoev, Oleg;
    • Zhang, Huan;
    • Benson, Mikael
    Publication type:
    Article
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    Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0692-0
    By:
    • Middelkamp, Sjors;
    • Vlaar, Judith M.;
    • Giltay, Jacques;
    • Korzelius, Jerome;
    • Besselink, Nicolle;
    • Boymans, Sander;
    • Janssen, Roel;
    • de la Fonteijne, Lisanne;
    • van Binsbergen, Ellen;
    • van Roosmalen, Markus J.;
    • Hochstenbach, Ron;
    • Giachino, Daniela;
    • Talkowski, Michael E.;
    • Kloosterman, Wigard P.;
    • Cuppen, Edwin
    Publication type:
    Article
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    Standard operating procedure for curation and clinical interpretation of variants in cancer.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0687-x
    By:
    • Danos, Arpad M.;
    • Krysiak, Kilannin;
    • Barnell, Erica K.;
    • Coffman, Adam C.;
    • McMichael, Joshua F.;
    • Kiwala, Susanna;
    • Spies, Nicholas C.;
    • Sheta, Lana M.;
    • Pema, Shahil P.;
    • Kujan, Lynzey;
    • Clark, Kaitlin A.;
    • Wollam, Amber Z.;
    • Rao, Shruti;
    • Ritter, Deborah I.;
    • Sonkin, Dmitriy;
    • Raca, Gordana;
    • Lin, Wan-Hsin;
    • Grisdale, Cameron J.;
    • Kim, Raymond H.;
    • Wagner, Alex H.
    Publication type:
    Article
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    Immune receptor repertoires in pediatric and adult acute myeloid leukemia.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0681-3
    By:
    • Zhang, Jian;
    • Hu, Xihao;
    • Wang, Jin;
    • Sahu, Avinash Das;
    • Cohen, David;
    • Song, Li;
    • Ouyang, Zhangyi;
    • Fan, Jingyu;
    • Wang, Binbin;
    • Fu, Jingxin;
    • Gu, Shengqing;
    • Sade-Feldman, Moshe;
    • Hacohen, Nir;
    • Li, Wuju;
    • Ying, Xiaomin;
    • Li, Bo;
    • Liu, X. Shirley
    Publication type:
    Article
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    Inflammatory cytokines and organ dysfunction associate with the aberrant DNA methylome of monocytes in sepsis.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0674-2
    By:
    • Lorente-Sorolla, Clara;
    • Garcia-Gomez, Antonio;
    • Català-Moll, Francesc;
    • Toledano, Víctor;
    • Ciudad, Laura;
    • Avendaño-Ortiz, José;
    • Maroun-Eid, Charbel;
    • Martín-Quirós, Alejandro;
    • Martínez-Gallo, Mónica;
    • Ruiz-Sanmartín, Adolfo;
    • del Campo, Álvaro García;
    • Ferrer-Roca, Ricard;
    • Ruiz-Rodriguez, Juan Carlos;
    • Álvarez-Errico, Damiana;
    • López-Collazo, Eduardo;
    • Ballestar, Esteban
    Publication type:
    Article
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    Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0685-z
    By:
    • Zhu, Na;
    • Pauciulo, Michael W.;
    • Welch, Carrie L.;
    • Lutz, Katie A.;
    • Coleman, Anna W.;
    • Gonzaga-Jauregui, Claudia;
    • Wang, Jiayao;
    • Grimes, Joseph M.;
    • Martin, Lisa J.;
    • He, Hua;
    • PAH Biobank Enrolling Centers' Investigators;
    • Hirsch, Russel;
    • White, R. James;
    • Simon, Marc;
    • Badesch, David;
    • Rosenzweig, Erika;
    • Burger, Charles;
    • Chakinala, Murali;
    • Thenappan, Thenappan;
    • Elliott, Greg
    Publication type:
    Article
    30

    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0675-1
    By:
    • Lindstrand, Anna;
    • Eisfeldt, Jesper;
    • Pettersson, Maria;
    • Carvalho, Claudia M. B.;
    • Kvarnung, Malin;
    • Grigelioniene, Giedre;
    • Anderlid, Britt-Marie;
    • Bjerin, Olof;
    • Gustavsson, Peter;
    • Hammarsjö, Anna;
    • Georgii-Hemming, Patrik;
    • Iwarsson, Erik;
    • Johansson-Soller, Maria;
    • Lagerstedt-Robinson, Kristina;
    • Lieden, Agne;
    • Magnusson, Måns;
    • Martin, Marcel;
    • Malmgren, Helena;
    • Nordenskjöld, Magnus;
    • Norling, Ameli
    Publication type:
    Article
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    Long non-coding RNAs identify a subset of luminal muscle-invasive bladder cancer patients with favorable prognosis.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0669-z
    By:
    • de Jong, Joep J.;
    • Liu, Yang;
    • Robertson, A. Gordon;
    • Seiler, Roland;
    • Groeneveld, Clarice S.;
    • van der Heijden, Michiel S.;
    • Wright, Jonathan L.;
    • Douglas, James;
    • Dall'Era, Marc;
    • Crabb, Simon J.;
    • van Rhijn, Bas W. G.;
    • van Kessel, Kim E. M.;
    • Davicioni, Elai;
    • Castro, Mauro A. A.;
    • Lotan, Yair;
    • Zwarthoff, Ellen C.;
    • Black, Peter C.;
    • Boormans, Joost L.;
    • Gibb, Ewan A.
    Publication type:
    Article
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    Identifying Crohn's disease signal from variome analysis.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0670-6
    By:
    • Wang, Yanran;
    • Miller, Maximilian;
    • Astrakhan, Yuri;
    • Petersen, Britt-Sabina;
    • Schreiber, Stefan;
    • Franke, Andre;
    • Bromberg, Yana
    Publication type:
    Article
    35

    The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study.

    Published in:
    Genome Medicine, 2019, p. 1, doi. 10.1186/s13073-023-01223-1
    By:
    • Davidson, Aimee L.;
    • Dressel, Uwe;
    • Norris, Sarah;
    • Canson, Daffodil M.;
    • Glubb, Dylan M.;
    • Fortuno, Cristina;
    • Hollway, Georgina E.;
    • Parsons, Michael T.;
    • Vidgen, Miranda E.;
    • Holmes, Oliver;
    • Koufariotis, Lambros T.;
    • Lakis, Vanessa;
    • Leonard, Conrad;
    • Wood, Scott;
    • Xu, Qinying;
    • McCart Reed, Amy E.;
    • Pickett, Hilda A.;
    • Al-Shinnag, Mohammad K.;
    • Austin, Rachel L.;
    • Burke, Jo
    Publication type:
    Article
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    Comprehensive characterization of circular RNAs in ~ 1000 human cancer cell lines.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0663-5
    By:
    • Ruan, Hang;
    • Xiang, Yu;
    • Ko, Junsuk;
    • Li, Shengli;
    • Jing, Ying;
    • Zhu, Xiaoyu;
    • Ye, Youqiong;
    • Zhang, Zhao;
    • Mills, Tingting;
    • Feng, Jing;
    • Liu, Chun-Jie;
    • Jing, Ji;
    • Cao, Jin;
    • Zhou, Bingying;
    • Wang, Li;
    • Zhou, Yubin;
    • Lin, Chunru;
    • Guo, An-Yuan;
    • Chen, Xi;
    • Diao, Lixia
    Publication type:
    Article
    40

    Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0667-1
    By:
    • Zhang, Qian;
    • Vallerga, Costanza L.;
    • Walker, Rosie M.;
    • Lin, Tian;
    • Henders, Anjali K.;
    • Montgomery, Grant W.;
    • He, Ji;
    • Fan, Dongsheng;
    • Fowdar, Javed;
    • Kennedy, Martin;
    • Pitcher, Toni;
    • Pearson, John;
    • Halliday, Glenda;
    • Kwok, John B.;
    • Hickie, Ian;
    • Lewis, Simon;
    • Anderson, Tim;
    • Silburn, Peter A.;
    • Mellick, George D.;
    • Harris, Sarah E.
    Publication type:
    Article
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    Identifying chemogenetic interactions from CRISPR screens with drugZ.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0665-3
    By:
    • Colic, Medina;
    • Wang, Gang;
    • Zimmermann, Michal;
    • Mascall, Keith;
    • McLaughlin, Megan;
    • Bertolet, Lori;
    • Lenoir, W. Frank;
    • Moffat, Jason;
    • Angers, Stephane;
    • Durocher, Daniel;
    • Hart, Traver
    Publication type:
    Article
    43

    A validated single-cell-based strategy to identify diagnostic and therapeutic targets in complex diseases.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0657-3
    By:
    • Gawel, Danuta R.;
    • Serra-Musach, Jordi;
    • Lilja, Sandra;
    • Aagesen, Jesper;
    • Arenas, Alex;
    • Asking, Bengt;
    • Bengnér, Malin;
    • Björkander, Janne;
    • Biggs, Sophie;
    • Ernerudh, Jan;
    • Hjortswang, Henrik;
    • Karlsson, Jan-Erik;
    • Köpsen, Mattias;
    • Lee, Eun Jung;
    • Lentini, Antonio;
    • Li, Xinxiu;
    • Magnusson, Mattias;
    • Martínez-Enguita, David;
    • Matussek, Andreas;
    • Nestor, Colm E.
    Publication type:
    Article
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    Correction to: Molecular and pharmacological modulators of the tumor immune contexture revealed by deconvolution of RNA-seq data.

    Published in:
    2019
    By:
    • Finotello, Francesca;
    • Mayer, Clemens;
    • Plattner, Christina;
    • Laschober, Gerhard;
    • Rieder, Dietmar;
    • Hackl, Hubert;
    • Krogsdam, Anne;
    • Loncova, Zuzana;
    • Posch, Wilfried;
    • Wilflingseder, Doris;
    • Sopper, Sieghart;
    • Ijsselsteijn, Marieke;
    • Brouwer, Thomas P.;
    • Johnson, Douglas;
    • Xu, Yaomin;
    • Wang, Yu;
    • Sanders, Melinda E.;
    • Estrada, Monica V.;
    • Ericsson-Gonzalez, Paula;
    • Charoentong, Pornpimol
    Publication type:
    Correction Notice
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    A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0658-2
    By:
    • Cao, Ye;
    • Tokita, Mari J.;
    • Chen, Edward S.;
    • Ghosh, Rajarshi;
    • Chen, Tiansheng;
    • Feng, Yanming;
    • Gorman, Elizabeth;
    • Gibellini, Federica;
    • Ward, Patricia A.;
    • Braxton, Alicia;
    • Wang, Xia;
    • Meng, Linyan;
    • Xiao, Rui;
    • Bi, Weimin;
    • Xia, Fan;
    • Eng, Christine M.;
    • Yang, Yaping;
    • Gambin, Tomasz;
    • Shaw, Chad;
    • Liu, Pengfei
    Publication type:
    Article
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    Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0651-9
    By:
    • Taylor, John;
    • Craft, Jude;
    • Blair, Edward;
    • Wordsworth, Sarah;
    • Beeson, David;
    • Chandratre, Saleel;
    • Cossins, Judith;
    • Lester, Tracy;
    • Németh, Andrea H.;
    • Ormondroyd, Elizabeth;
    • Patel, Smita Y.;
    • Pagnamenta, Alistair T.;
    • Taylor, Jenny C.;
    • Thomson, Kate L.;
    • Watkins, Hugh;
    • Wilkie, Andrew O. M.;
    • Knight, Julian C.
    Publication type:
    Article
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