Works matching IS 20567944 AND DT 2021 AND VI 6 AND IP 1

Results: 109
    1

    Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00173-0
    By:
    • Akter, Hosneara;
    • Hossain, Mohammad Shahnoor;
    • Dity, Nushrat Jahan;
    • Rahaman, Md. Atikur;
    • Furkan Uddin, K. M.;
    • Nassir, Nasna;
    • Begum, Ghausia;
    • Hameid, Reem Abdel;
    • Islam, Muhammad Sougatul;
    • Tusty, Tahrima Arman;
    • Basiruzzaman, Mohammad;
    • Sarkar, Shaoli;
    • Islam, Mazharul;
    • Jahan, Sharmin;
    • Lim, Elaine T.;
    • Woodbury-Smith, Marc;
    • Stavropoulos, Dimitri James;
    • O'Rielly, Darren D.;
    • Berdeiv, Bakhrom K.;
    • Nurun Nabi, A. H. M.
    Publication type:
    Article
    2

    HERVs establish a distinct molecular subtype in stage II/III colorectal cancer with poor outcome.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00177-w
    By:
    • Golkaram, Mahdi;
    • Salmans, Michael L.;
    • Kaplan, Shannon;
    • Vijayaraghavan, Raakhee;
    • Martins, Marta;
    • Khan, Nafeesa;
    • Garbutt, Cassandra;
    • Wise, Aaron;
    • Yao, Joyee;
    • Casimiro, Sandra;
    • Abreu, Catarina;
    • Macedo, Daniela;
    • Costa, Ana Lúcia;
    • Alvim, Cecília;
    • Mansinho, André;
    • Filipe, Pedro;
    • Marques da Costa, Pedro;
    • Fernandes, Afonso;
    • Borralho, Paula;
    • Ferreira, Cristina
    Publication type:
    Article
    3
    4

    Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00178-9
    By:
    • Wei, Chun-Yu;
    • Yang, Jenn-Hwai;
    • Yeh, Erh-Chan;
    • Tsai, Ming-Fang;
    • Kao, Hsiao-Jung;
    • Lo, Chen-Zen;
    • Chang, Lung-Pao;
    • Lin, Wan-Jia;
    • Hsieh, Feng-Jen;
    • Belsare, Saurabh;
    • Bhaskar, Anand;
    • Su, Ming-Wei;
    • Lee, Te-Chang;
    • Lin, Yi-Ling;
    • Liu, Fu-Tong;
    • Shen, Chen-Yang;
    • Li, Ling-Hui;
    • Chen, Chien-Hsiun;
    • Wall, Jeffrey D.;
    • Wu, Jer-Yuarn
    Publication type:
    Article
    5
    6
    7
    8
    9
    10
    11

    Pan-cancer analysis of transcripts encoding novel open-reading frames (nORFs) and their potential biological functions.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-020-00167-4
    By:
    • Erady, Chaitanya;
    • Boxall, Adam;
    • Puntambekar, Shraddha;
    • Suhas Jagannathan, N.;
    • Chauhan, Ruchi;
    • Chong, David;
    • Meena, Narendra;
    • Kulkarni, Apurv;
    • Kasabe, Bhagyashri;
    • Prathivadi Bhayankaram, Kethaki;
    • Umrania, Yagnesh;
    • Andreani, Adam;
    • Nel, Jean;
    • Wayland, Matthew T.;
    • Pina, Cristina;
    • Lilley, Kathryn S.;
    • Prabakaran, Sudhakaran
    Publication type:
    Article
    12
    13

    Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-020-00163-8
    By:
    • Aslam, Muhammad;
    • Kandasamy, Nirosiya;
    • Ullah, Anwar;
    • Paramasivam, Nagarajan;
    • Öztürk, Mehmet Ali;
    • Naureen, Saima;
    • Arshad, Abida;
    • Badshah, Mazhar;
    • Khan, Kafaitullah;
    • Wajid, Muhammad;
    • Abbasi, Rashda;
    • Ilyas, Muhammad;
    • Eils, Roland;
    • Schlesner, Matthias;
    • Wade, Rebecca C.;
    • Ahmad, Nafees;
    • von Engelhardt, Jakob
    Publication type:
    Article
    14
    15
    16
    17

    The salivary metatranscriptome as an accurate diagnostic indicator of oral cancer.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00257-x
    By:
    • Banavar, Guruduth;
    • Ogundijo, Oyetunji;
    • Toma, Ryan;
    • Rajagopal, Sathyapriya;
    • Lim, Yen Kai;
    • Tang, Kai;
    • Camacho, Francine;
    • Torres, Pedro J.;
    • Gline, Stephanie;
    • Parks, Matthew;
    • Kenny, Liz;
    • Perlina, Ally;
    • Tily, Hal;
    • Dimitrova, Nevenka;
    • Amar, Salomon;
    • Vuyisich, Momchilo;
    • Punyadeera, Chamindie
    Publication type:
    Article
    18

    De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00268-8
    By:
    • Okur, Volkan;
    • Chen, Zefu;
    • Vossaert, Liesbeth;
    • Peacock, Sandra;
    • Rosenfeld, Jill;
    • Zhao, Lina;
    • Du, Haowei;
    • Calamaro, Emily;
    • Gerard, Amanda;
    • Zhao, Sen;
    • Kelsay, Jill;
    • Lahr, Ashley;
    • Mighton, Chloe;
    • Porter, Hillary M.;
    • Siemon, Amy;
    • Silver, Josh;
    • Svihovec, Shayna;
    • Fong, Chin-To;
    • Grant, Christina L.;
    • Lerner-Ellis, Jordan
    Publication type:
    Article
    19

    Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00256-y
    By:
    • Levy, Michael A.;
    • Beck, David B.;
    • Metcalfe, Kay;
    • Douzgou, Sofia;
    • Sithambaram, Sivagamy;
    • Cottrell, Trudie;
    • Ansar, Muhammad;
    • Kerkhof, Jennifer;
    • Mignot, Cyril;
    • Nougues, Marie-Christine;
    • Keren, Boris;
    • Moore, Hannah W.;
    • Oegema, Renske;
    • Giltay, Jacques C.;
    • Simon, Marleen;
    • van Jaarsveld, Richard H.;
    • Bos, Jessica;
    • van Haelst, Mieke;
    • Motazacker, M. Mahdi;
    • Boon, Elles M. J.
    Publication type:
    Article
    20
    21

    Accurate detection of circulating tumor DNA using nanopore consensus sequencing.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00272-y
    By:
    • Marcozzi, Alessio;
    • Jager, Myrthe;
    • Elferink, Martin;
    • Straver, Roy;
    • van Ginkel, Joost H.;
    • Peltenburg, Boris;
    • Chen, Li-Ting;
    • Renkens, Ivo;
    • van Kuik, Joyce;
    • Terhaard, Chris;
    • de Bree, Remco;
    • Devriese, Lot A.;
    • Willems, Stefan M.;
    • Kloosterman, Wigard P.;
    • de Ridder, Jeroen
    Publication type:
    Article
    22
    23
    24
    25

    Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00258-w
    By:
    • Koster, R.;
    • Brandão, R. D.;
    • Tserpelis, D.;
    • van Roozendaal, C. E. P.;
    • van Oosterhoud, C. N.;
    • Claes, K. B. M.;
    • Paulussen, A. D. C.;
    • Sinnema, M.;
    • Vreeburg, M.;
    • van der Schoot, V.;
    • Stumpel, C. T. R. M.;
    • Broen, M. P. G.;
    • Spruijt, L.;
    • Jongmans, M. C. J.;
    • Lesnik Oberstein, S. A. J.;
    • Plomp, A. S.;
    • Misra-Isrie, M.;
    • Duijkers, F. A.;
    • Louwers, M. J.;
    • Szklarczyk, R.
    Publication type:
    Article
    26

    A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00254-0
    By:
    • Loureiro, Livia O.;
    • Howe, Jennifer L.;
    • Reuter, Miriam S.;
    • Iaboni, Alana;
    • Calli, Kristina;
    • Roshandel, Delnaz;
    • Pritišanac, Iva;
    • Moses, Alan;
    • Forman-Kay, Julie D.;
    • Trost, Brett;
    • Zarrei, Mehdi;
    • Rennie, Olivia;
    • Lau, Lynette Y. S.;
    • Marshall, Christian R.;
    • Srivastava, Siddharth;
    • Godlewski, Brianna;
    • Buttermore, Elizabeth D.;
    • Sahin, Mustafa;
    • Hartley, Dean;
    • Frazier, Thomas
    Publication type:
    Article
    27

    Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

    Published in:
    2021
    By:
    • Levy, Michael A.;
    • Beck, David B.;
    • Metcalfe, Kay;
    • Douzgou, Sofia;
    • Sithambaram, Sivagamy;
    • Cottrell, Trudie;
    • Ansar, Muhammad;
    • Kerkhof, Jennifer;
    • Mignot, Cyril;
    • Nougues, Marie-Christine;
    • Keren, Boris;
    • Moore, Hannah W.;
    • Oegema, Renske;
    • Giltay, Jacques C.;
    • Simon, Marleen;
    • van Jaarsveld, Richard H.;
    • Bos, Jessica;
    • van Haelst, Mieke;
    • Motazacker, M. Mahdi;
    • Boon, Elles M. J.
    Publication type:
    Correction Notice
    28
    29
    30

    Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00263-z
    By:
    • Merico, Daniele;
    • Pasternak, Yehonatan;
    • Zarrei, Mehdi;
    • Higginbotham, Edward J.;
    • Thiruvahindrapuram, Bhooma;
    • Scott, Ori;
    • Willett-Pachul, Jessica;
    • Grunebaum, Eyal;
    • Upton, Julia;
    • Atkinson, Adelle;
    • Kim, Vy H. D.;
    • Aliyev, Elbay;
    • Fakhro, Khalid;
    • Scherer, Stephen W.;
    • Roifman, Chaim M.
    Publication type:
    Article
    31

    Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00261-1
    By:
    • Fadaie, Zeinab;
    • Whelan, Laura;
    • Ben-Yosef, Tamar;
    • Dockery, Adrian;
    • Corradi, Zelia;
    • Gilissen, Christian;
    • Haer-Wigman, Lonneke;
    • Corominas, Jordi;
    • Astuti, Galuh D. N.;
    • de Rooij, Laura;
    • van den Born, L. Ingeborgh;
    • Klaver, Caroline C. W.;
    • Hoyng, Carel B.;
    • Wynne, Niamh;
    • Duignan, Emma S.;
    • Kenna, Paul F.;
    • Cremers, Frans P. M.;
    • Farrar, G. Jane;
    • Roosing, Susanne
    Publication type:
    Article
    32
    33
    34
    35
    36

    Application of full-genome analysis to diagnose rare monogenic disorders.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
    By:
    • Shieh, Joseph T.;
    • Penon-Portmann, Monica;
    • Wong, Karen H. Y.;
    • Levy-Sakin, Michal;
    • Verghese, Michelle;
    • Slavotinek, Anne;
    • Gallagher, Renata C.;
    • Mendelsohn, Bryce A.;
    • Tenney, Jessica;
    • Beleford, Daniah;
    • Perry, Hazel;
    • Chow, Stephen K.;
    • Sharo, Andrew G.;
    • Brenner, Steven E.;
    • Qi, Zhongxia;
    • Yu, Jingwei;
    • Klein, Ophir D.;
    • Martin, David;
    • Kwok, Pui-Yan;
    • Boffelli, Dario
    Publication type:
    Article
    37

    Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.

    Published in:
    2021
    By:
    • Shieh, Joseph T.;
    • Penon-Portmann, Monica;
    • Wong, Karen H. Y.;
    • Levy-Sakin, Michal;
    • Verghese, Michelle;
    • Slavotinek, Anne;
    • Gallagher, Renata C.;
    • Mendelsohn, Bryce A.;
    • Tenney, Jessica;
    • Beleford, Daniah;
    • Perry, Hazel;
    • Chow, Stephen K.;
    • Sharo, Andrew G.;
    • Brenner, Steven E.;
    • Qi, Zhongxia;
    • Yu, Jingwei;
    • Klein, Ophir D.;
    • Martin, David;
    • Kwok, Pui-Yan;
    • Boffelli, Dario
    Publication type:
    Correction Notice
    38
    39
    40

    Application of full-genome analysis to diagnose rare monogenic disorders.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
    By:
    • Shieh, Joseph T.;
    • Penon-Portmann, Monica;
    • Wong, Karen H. Y.;
    • Levy-Sakin, Michal;
    • Verghese, Michelle;
    • Slavotinek, Anne;
    • Gallagher, Renata C.;
    • Mendelsohn, Bryce A.;
    • Tenney, Jessica;
    • Beleford, Daniah;
    • Perry, Hazel;
    • Chow, Stephen K.;
    • Sharo, Andrew G.;
    • Brenner, Steven E.;
    • Qi, Zhongxia;
    • Yu, Jingwei;
    • Klein, Ophir D.;
    • Martin, David;
    • Kwok, Pui-Yan;
    • Boffelli, Dario
    Publication type:
    Article
    41
    42

    Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00246-0
    By:
    • Tšuiko, Olga;
    • Vanneste, Michiel;
    • Melotte, Cindy;
    • Ding, Jia;
    • Debrock, Sophie;
    • Masset, Heleen;
    • Peters, Maire;
    • Salumets, Andres;
    • De Leener, Anne;
    • Pirard, Céline;
    • Kluyskens, Candice;
    • Hostens, Katleen;
    • van de Vijver, Arne;
    • Peeraer, Karen;
    • Denayer, Ellen;
    • Vermeesch, Joris Robert;
    • Dimitriadou, Eftychia
    Publication type:
    Article
    43
    44

    Contribution of rare variant associations to neurodegenerative disease presentation.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00243-3
    By:
    • Dilliott, Allison A.;
    • Abdelhady, Abdalla;
    • Sunderland, Kelly M.;
    • Farhan, Sali M. K.;
    • Abrahao, Agessandro;
    • Binns, Malcolm A.;
    • Black, Sandra E.;
    • Borrie, Michael;
    • Casaubon, Leanne K.;
    • Dowlatshahi, Dar;
    • Finger, Elizabeth;
    • Fischer, Corinne E.;
    • Frank, Andrew;
    • Freedman, Morris;
    • Grimes, David;
    • Hassan, Ayman;
    • Jog, Mandar;
    • Kumar, Sanjeev;
    • Kwan, Donna;
    • Lang, Anthony E.
    Publication type:
    Article
    45
    46

    Application of full-genome analysis to diagnose rare monogenic disorders.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
    By:
    • Shieh, Joseph T.;
    • Penon-Portmann, Monica;
    • Wong, Karen H. Y.;
    • Levy-Sakin, Michal;
    • Verghese, Michelle;
    • Slavotinek, Anne;
    • Gallagher, Renata C.;
    • Mendelsohn, Bryce A.;
    • Tenney, Jessica;
    • Beleford, Daniah;
    • Perry, Hazel;
    • Chow, Stephen K.;
    • Sharo, Andrew G.;
    • Brenner, Steven E.;
    • Qi, Zhongxia;
    • Yu, Jingwei;
    • Klein, Ophir D.;
    • Martin, David;
    • Kwok, Pui-Yan;
    • Boffelli, Dario
    Publication type:
    Article
    47

    Predicting cancer drug TARGETS - TreAtment Response Generalized Elastic-neT Signatures.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00239-z
    By:
    • Rydzewski, Nicholas R.;
    • Peterson, Erik;
    • Lang, Joshua M.;
    • Yu, Menggang;
    • Laura Chang, S.;
    • Sjöström, Martin;
    • Bakhtiar, Hamza;
    • Song, Gefei;
    • Helzer, Kyle T.;
    • Bootsma, Matthew L.;
    • Chen, William S.;
    • Shrestha, Raunak M.;
    • Zhang, Meng;
    • Quigley, David A.;
    • Aggarwal, Rahul;
    • Small, Eric J.;
    • Wahl, Daniel R.;
    • Feng, Felix Y.;
    • Zhao, Shuang G.
    Publication type:
    Article
    48

    Genomic alterations associated with mutational signatures, DNA damage repair and chromatin remodeling pathways in cervical carcinoma.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00244-2
    By:
    • Halle, Mari K.;
    • Sundaresan, Aishwarya;
    • Zhang, Jianqing;
    • Pedamallu, Chandra Sekhar;
    • Srinivasasainagendra, Vinodh;
    • Blair, Jessica;
    • Brooke, Dewey;
    • Bertelsen, Bjørn I.;
    • Woie, Kathrine;
    • Shrestha, Sadeep;
    • Tiwari, Hemant;
    • Wong, Yick Fu;
    • Krakstad, Camilla;
    • Ojesina, Akinyemi I.
    Publication type:
    Article
    49

    Multiregional genetic evolution of metastatic uveal melanoma.

    Published in:
    NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00233-5
    By:
    • Rodriguez, Daniel A.;
    • Yang, Jessica;
    • Durante, Michael A.;
    • Shoushtari, Alexander N.;
    • Moschos, Stergios J.;
    • Wrzeszczynski, Kazimierz O.;
    • Harbour, J. William;
    • Carvajal, Richard D.
    Publication type:
    Article
    50