Works matching IS 20567944 AND DT 2020 AND VI 5 AND IP 1

Results: 57
    1

    Clinical utility of genomic sequencing: a measurement toolkit.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00164-7
    By:
    • Hayeems, Robin Z.;
    • Dimmock, David;
    • Bick, David;
    • Belmont, John W.;
    • Green, Robert C.;
    • Lanpher, Brendan;
    • Jobanputra, Vaidehi;
    • Mendoza, Roberto;
    • Kulkarni, Shashi;
    • Grove, Megan E.;
    • Taylor, Stacie L.;
    • Ashley, Euan
    Publication type:
    Article
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    A flexible computational pipeline for research analyses of unsolved clinical exome cases.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00161-w
    By:
    • Lassmann, Timo;
    • Francis, Richard W.;
    • Weeks, Alexia;
    • Tang, Dave;
    • Jamieson, Sarra E.;
    • Broley, Stephanie;
    • Dawkins, Hugh J. S.;
    • Dreyer, Lauren;
    • Goldblatt, Jack;
    • Groza, Tudor;
    • Kamien, Benjamin;
    • Kiraly-Borri, Cathy;
    • McKenzie, Fiona;
    • Murphy, Lesley;
    • Pachter, Nicholas;
    • Pathak, Gargi;
    • Poulton, Cathryn;
    • Samanek, Amanda;
    • Skoss, Rachel;
    • Slee, Jennie
    Publication type:
    Article
    4

    Missense variant contribution to USP9X-female syndrome.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00162-9
    By:
    • Jolly, Lachlan A.;
    • Parnell, Euan;
    • Gardner, Alison E.;
    • Corbett, Mark A.;
    • Pérez-Jurado, Luis A.;
    • Shaw, Marie;
    • Lesca, Gaetan;
    • Keegan, Catherine;
    • Schneider, Michael C.;
    • Griffin, Emily;
    • Maier, Felicitas;
    • Kiss, Courtney;
    • Guerin, Andrea;
    • Crosby, Kathleen;
    • Rosenbaum, Kenneth;
    • Tanpaiboon, Pranoot;
    • Whalen, Sandra;
    • Keren, Boris;
    • McCarrier, Julie;
    • Basel, Donald
    Publication type:
    Article
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    Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
    By:
    • Marshall, Christian R.;
    • Chowdhury, Shimul;
    • Taft, Ryan J.;
    • Lebo, Mathew S.;
    • Buchan, Jillian G.;
    • Harrison, Steven M.;
    • Rowsey, Ross;
    • Klee, Eric W.;
    • Liu, Pengfei;
    • Worthey, Elizabeth A.;
    • Jobanputra, Vaidehi;
    • Dimmock, David;
    • Kearney, Hutton M.;
    • Bick, David;
    • Kulkarni, Shashikant;
    • Taylor, Stacie L.;
    • Belmont, John W.;
    • Stavropoulos, Dimitri J.;
    • Lennon, Niall J.
    Publication type:
    Article
    11

    The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00153-w
    By:
    • Aguib, Yasmine;
    • Allouba, Mona;
    • Afify, Alaa;
    • Halawa, Sarah;
    • El-Khatib, Mohamed;
    • Sous, Marina;
    • Galal, Aya;
    • Abdelrahman, Eslam;
    • Shehata, Nairouz;
    • El Sawy, Amr;
    • Elmaghawry, Mohamed;
    • Anwer, Shehab;
    • Kamel, Omnia;
    • El Mozy, Wesam;
    • Khedr, Hadir;
    • Kharabish, Ahmed;
    • Thabet, Nagwa;
    • Theotokis, Pantazis I.;
    • Buchan, Rachel;
    • Govind, Risha
    Publication type:
    Article
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    Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00150-z
    By:
    • Cheema, Huma;
    • Bertoli-Avella, Aida M.;
    • Skrahina, Volha;
    • Anjum, Muhammad Nadeem;
    • Waheed, Nadia;
    • Saeed, Anjum;
    • Beetz, Christian;
    • Perez-Lopez, Jordi;
    • Rocha, Maria Eugenia;
    • Alawbathani, Salem;
    • Pereira, Catarina;
    • Hovakimyan, Marina;
    • Patric, Irene Rosita Pia;
    • Paknia, Omid;
    • Ameziane, Najim;
    • Cozma, Claudia;
    • Bauer, Peter;
    • Rolfs, Arndt
    Publication type:
    Article
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    Association of CNVs with methylation variation.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00145-w
    By:
    • Shi, Xinghua;
    • Radhakrishnan, Saranya;
    • Wen, Jia;
    • Chen, Jin Yun;
    • Chen, Junjie;
    • Lam, Brianna Ashlyn;
    • Mills, Ryan E.;
    • Stranger, Barbara E.;
    • Lee, Charles;
    • Setlur, Sunita R.
    Publication type:
    Article
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    Pharmacogenomics of COVID-19 therapies.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00143-y
    By:
    • Takahashi, Takuto;
    • Luzum, Jasmine A.;
    • Nicol, Melanie R.;
    • Jacobson, Pamala A.
    Publication type:
    Article
    24

    Children's rare disease cohorts: an integrative research and clinical genomics initiative.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0137-0
    By:
    • Rockowitz, Shira;
    • LeCompte, Nicholas;
    • Carmack, Mary;
    • Quitadamo, Andrew;
    • Wang, Lily;
    • Park, Meredith;
    • Knight, Devon;
    • Sexton, Emma;
    • Smith, Lacey;
    • Sheidley, Beth;
    • Field, Michael;
    • Holm, Ingrid A.;
    • Brownstein, Catherine A.;
    • Agrawal, Pankaj B.;
    • Kornetsky, Susan;
    • Poduri, Annapurna;
    • Snapper, Scott B.;
    • Beggs, Alan H.;
    • Yu, Timothy W.;
    • Williams, David A.
    Publication type:
    Article
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    A glioneuronal tumor with CLIP2-MET fusion.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0131-6
    By:
    • Chowdhury, Tamrin;
    • Lee, Yeajina;
    • Kim, Sojin;
    • Yu, Hyeon Jong;
    • Ji, So Young;
    • Bae, Jeong Mo;
    • Won, Jae Kyung;
    • Shin, Joo Heon;
    • Weinberger, Daniel R.;
    • Choi, Seung Hong;
    • Park, Chul-Kee;
    • Kim, Jong-Il;
    • Park, Sung-Hye
    Publication type:
    Article
    34

    Sequencing technology status of BRCA1/2 testing in Latin American Countries.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0126-3
    By:
    • Solano, Angela R.;
    • Palmero, Edenir I.;
    • Delgado, Lucía;
    • Carraro, Dirce M.;
    • Ortíz-López, Rocío;
    • Carranza, Claudia L.;
    • Santamaria, Carlos;
    • Cifuentes, Laura;
    • Jara Sosa, Lilian E.;
    • Toland, Amanda E.
    Publication type:
    Article
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    ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0123-6
    By:
    • Merico, Daniele;
    • Spickett, Carl;
    • O'Hara, Matthew;
    • Kakaradov, Boyko;
    • Deshwar, Amit G.;
    • Fradkin, Phil;
    • Gandhi, Shreshth;
    • Gao, Jiexin;
    • Grant, Solomon;
    • Kron, Ken;
    • Schmitges, Frank W.;
    • Shalev, Zvi;
    • Sun, Mark;
    • Verby, Marta;
    • Cahill, Matthew;
    • Dowling, James J.;
    • Fransson, Johan;
    • Wienholds, Erno;
    • Frey, Brendan J.
    Publication type:
    Article
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    Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0118-3
    By:
    • Nabais, Marta F.;
    • Lin, Tian;
    • Benyamin, Beben;
    • Williams, Kelly L.;
    • Garton, Fleur C.;
    • Vinkhuyzen, Anna A. E.;
    • Zhang, Futao;
    • Vallerga, Costanza L.;
    • Restuadi, Restuadi;
    • Freydenzon, Anna;
    • Zwamborn, Ramona A. J.;
    • Hop, Paul J.;
    • Robinson, Matthew R.;
    • Gratten, Jacob;
    • Visscher, Peter M.;
    • Hannon, Eilis;
    • Mill, Jonathan;
    • Brown, Matthew A.;
    • Laing, Nigel G.;
    • Mather, Karen A.
    Publication type:
    Article
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