Works in BMC Medical Genomics, 2020, Vol 13, Issue 1

Results: 140
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    Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

    Published in:
    BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00824-8
    By:
    • Miller, Eirwen M.;
    • Patterson, Nicole E.;
    • Gressel, Gregory M.;
    • Karabakhtsian, Rouzan G.;
    • Bejerano-Sagie, Michal;
    • Ravi, Nivedita;
    • Maslov, Alexander;
    • Quispe-Tintaya, Wilber;
    • Wang, Tao;
    • Lin, Juan;
    • Smith, Harriet O.;
    • Goldberg, Gary L.;
    • Kuo, Dennis Y. S.;
    • Montagna, Cristina
    Publication type:
    Article
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    A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

    Published in:
    BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00821-x
    By:
    • Zlotina, Anna;
    • Melnik, Olesia;
    • Fomicheva, Yulia;
    • Skitchenko, Rostislav;
    • Sergushichev, Alexey;
    • Shagimardanova, Elena;
    • Gusev, Oleg;
    • Gazizova, Guzel;
    • Loevets, Tatiana;
    • Vershinina, Tatiana;
    • Kozyrev, Ivan;
    • Gordeev, Mikhail;
    • Vasichkina, Elena;
    • Pervunina, Tatiana;
    • Kostareva, Anna
    Publication type:
    Article
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    Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE).

    Published in:
    BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00814-w
    By:
    • Samsom, Kris G.;
    • Bosch, Linda J. W.;
    • Schipper, Luuk J.;
    • Roepman, Paul;
    • de Bruijn, Ewart;
    • Hoes, Louisa R.;
    • Riethorst, Immy;
    • Schoenmaker, Lieke;
    • van der Kolk, Lizet E.;
    • Retèl, Valesca P.;
    • Frederix, Geert W. J.;
    • Buffart, Tineke E.;
    • van der Hoeven, Jacobus J. M.;
    • Voest, Emile E.;
    • Cuppen, Edwin;
    • Monkhorst, Kim;
    • Meijer, Gerrit A.
    Publication type:
    Article
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    Genomic analysis of circular RNAs in heart.

    Published in:
    BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00817-7
    By:
    • Dong, Kunzhe;
    • He, Xiangqin;
    • Su, Huabo;
    • Fulton, David J. R.;
    • Zhou, Jiliang
    Publication type:
    Article
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    A new efficient method to detect genetic interactions for lung cancer GWAS.

    Published in:
    BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00807-9
    By:
    • Luyapan, Jennifer;
    • Ji, Xuemei;
    • Li, Siting;
    • Xiao, Xiangjun;
    • Zhu, Dakai;
    • Duell, Eric J.;
    • Christiani, David C.;
    • Schabath, Matthew B.;
    • Arnold, Susanne M.;
    • Zienolddiny, Shanbeh;
    • Brunnström, Hans;
    • Melander, Olle;
    • Thornquist, Mark D.;
    • MacKenzie, Todd A.;
    • Amos, Christopher I.;
    • Gui, Jiang
    Publication type:
    Article
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    TOP2A and CENPF are synergistic master regulators activated in cervical cancer.

    Published in:
    BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00800-2
    By:
    • Yu, Beiwei;
    • Chen, Long;
    • Zhang, Weina;
    • Li, Yue;
    • Zhang, Yibiao;
    • Gao, Yuan;
    • Teng, Xianlin;
    • Zou, Libo;
    • Wang, Qian;
    • Jia, Hongtao;
    • Liu, Xiangtao;
    • Zheng, Hui;
    • Hou, Ping;
    • Yu, Hongyan;
    • Sun, Ying;
    • Zhang, Zhiqin;
    • Zhang, Ping;
    • Zhang, Liqin
    Publication type:
    Article
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    A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.

    Published in:
    BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00790-1
    By:
    • Vasilyeva, Tatyana A.;
    • Marakhonov, Andrey V.;
    • Minzhenkova, Marina E.;
    • Markova, Zhanna G.;
    • Petrova, Nika V.;
    • Sukhanova, Natella V.;
    • Koshkin, Philipp A.;
    • Pyankov, Denis V.;
    • Kanivets, Ilya V.;
    • Korostelev, Sergey A.;
    • Krynskaya, Irina A.;
    • Shilova, Nadezhda V.;
    • Kutsev, Sergey I.;
    • Kadyshev, Vitaly V.;
    • Zinchenko, Rena A.
    Publication type:
    Article
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    Multiple paragangliomas: a case report.

    Published in:
    BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00789-8
    By:
    • Pavlov, Vladislav S.;
    • Kalinin, Dmitry V.;
    • Lukyanova, Elena N.;
    • Golovyuk, Alexander L.;
    • Fedorova, Maria S.;
    • Pudova, Elena A.;
    • Savvateeva, Maria V.;
    • Lipatova, Anastasiya V.;
    • Guvatova, Zulfiya G.;
    • Kaprin, Andrey D.;
    • Kiseleva, Marina V.;
    • Demidova, Tatiana B.;
    • Simanovsky, Sergey A.;
    • Melnikova, Nataliya V.;
    • Dmitriev, Alexey A.;
    • Krasnov, George S.;
    • Snezhkina, Anastasiya V.;
    • Kudryavtseva, Anna V.
    Publication type:
    Article