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GENOME MED - Genome Medicine

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Publications

  1. 2023

  2. Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions

    Tschernoster, N., Erger, F., Kohl, S., Reusch, B., Wenzel, A., Walsh, S., Thiele, H., Becker, C., Franitza, M., Bartram, M. P., Kömhoff, M., Schumacher, L., Kukat, C., Borodina, T., Quedenau, C., Nürnberg, P., Rinschen, M. M., Driller, J. H., Pedersen, B. P., Schlingmann, K. P., Hüttel, B., Bockenhauer, D., Beck, B. & Altmüller, J., 23.08.2023, In: GENOME MED. 15, 1, 62.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

    Mueller, S. H., Lai, A. G., Valkovskaya, M., Michailidou, K., Bolla, M. K., Wang, Q., Dennis, J., Lush, M., Abu-Ful, Z., Ahearn, T. U., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Aronson, K. J., Augustinsson, A., Baert, T., Freeman, L. E. B., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Bonanni, B., Brenner, H., Brucker, S. Y., Buys, S. S., Castelao, J. E., Chan, T. L., Chang-Claude, J., Chanock, S. J., Choi, J-Y., Chung, W. K., Colonna, S. V., Cornelissen, S., Couch, F. J., Czene, K., Daly, M. B., Devilee, P., Dörk, T., Dossus, L., Dwek, M., Eccles, D. M., Ekici, A. B., Eliassen, A. H., Engel, C., Evans, D. G., Fasching, P. A., Fletcher, O., Flyger, H., Gago-Dominguez, M., Gao, Y-T., García-Closas, M., García-Sáenz, J. A., Genkinger, J., Gentry-Maharaj, A., Grassmann, F., Guénel, P., Gündert, M., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hall, P., Harkness, E. F., Harrington, P. A., Hartikainen, J. M., Hartman, M., Hein, A., Ho, W-K., Hooning, M. J., Hoppe, R., Hopper, J. L., Houlston, R. S., Howell, A., Hunter, D. J., Huo, D., Ito, H., Iwasaki, M., Jakubowska, A., Janni, W., John, E. M., Jones, M. E., Jung, A., Kaaks, R., Kang, D., Khusnutdinova, E. K., Kim, S-W., Kitahara, C. M., Koutros, S., Kraft, P., Kristensen, V. N., Kubelka-Sabit, K., Kurian, A. W., Kwong, A., Lacey, J. V., Lambrechts, D., Le Marchand, L., Li, J., Linet, M., Lo, W-Y., Long, J., Lophatananon, A., Mannermaa, A., Manoochehri, M., Margolin, S., Matsuo, K., Mavroudis, D., Menon, U., Muir, K., Murphy, R. A., Nevanlinna, H., Newman, W. G., Niederacher, D., O'Brien, K. M., Obi, N., Offit, K., Olopade, O. I., Olshan, A. F., Olsson, H., Park, S. K., Patel, A. V., Patel, A., Perou, C. M., Peto, J., Pharoah, P. D. P., Plaseska-Karanfilska, D., Presneau, N., Rack, B., Radice, P., Ramachandran, D., Rashid, M. U., Rennert, G., Romero, A., Ruddy, K. J., Ruebner, M., Saloustros, E., Sandler, D. P., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Schneider, M. O., Scott, C., Shah, M., Sharma, P., Shen, C-Y., Shu, X-O., Simard, J., Surowy, H., Tamimi, R. M., Tapper, W. J., Taylor, J. A., Teo, S. H., Teras, L. R., Toland, A. E., Tollenaar, R. A. E. M., Torres, D., Torres-Mejía, G., Troester, M. A., Truong, T., Vachon, C. M., Vijai, J., Weinberg, C. R., Wendt, C., Winqvist, R., Wolk, A., Wu, A. H., Yamaji, T., Yang, X. R., Yu, J-C., Zheng, W., Ziogas, A., Ziv, E., Dunning, A. M., Easton, D. F., Hemingway, H., Hamann, U., Kuchenbaecker, K. B., NBCS Collaborators, CTS Consortium & ABCTB Investigators, 26.01.2023, In: GENOME MED. 15, 1, 7.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy

    Liu, S., Zhao, Y., Lu, S., Zhang, T., Lindenmeyer, M. T., Nair, V., Gies, S. E., Wu, G., Nelson, R. G., Czogalla, J., Aypek, H., Zielinski, S., Liao, Z., Schaper, M., Fermin, D., Cohen, C. D., Delic, D., Krebs, C. F., Grahammer, F., Wiech, T., Kretzler, M., Meyer-Schwesinger, C., Bonn, S. & Huber, T. B., 10.01.2023, In: GENOME MED. 15, 1, p. 2

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. 2022

  6. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

    Dorling, L., Carvalho, S., Allen, J., Parsons, M. T., Fortuno, C., González-Neira, A., Heijl, S. M., Adank, M. A., Ahearn, T. U., Andrulis, I. L., Auvinen, P., Becher, H., Beckmann, M. W., Behrens, S., Bermisheva, M., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Bremer, M., Briceno, I., Camp, N. J., Campbell, A., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Chenevix-Trench, G., Collée, J. M., Czene, K., Dennis, J., Dörk, T., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J., Flyger, H., Gabrielson, M., Gago-Dominguez, M., García-Closas, M., Giles, G. G., Glendon, G., Guénel, P., Gündert, M., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Harkness, E. F., Hartman, M., Hogervorst, F. B. L., Hollestelle, A., Hoppe, R., Howell, A., Jakubowska, A., Jung, A., Khusnutdinova, E., Kim, S-W., Ko, Y-D., Kristensen, V. N., Lakeman, I. M. M., Li, J., Lindblom, A., Loizidou, M. A., Lophatananon, A., Lubiński, J., Luccarini, C., Madsen, M. J., Mannermaa, A., Manoochehri, M., Margolin, S., Mavroudis, D., Milne, R. L., Mohd Taib, N. A., Muir, K., Nevanlinna, H., Newman, W. G., Oosterwijk, J. C., Park, S. K., Peterlongo, P., Radice, P., Saloustros, E., Sawyer, E. J., Schmutzler, R. K., Shah, M., Sim, X., Southey, M. C., Surowy, H., Suvanto, M., Tomlinson, I., Torres, D., Truong, T., van Asperen, C. J., Waltes, R., Wang, Q., Yang, X. R., Pharoah, P. D. P., Schmidt, M. K., Benitez, J., Vroling, B., Dunning, A. M., Teo, S. H., Kvist, A., de la Hoya, M., Devilee, P., Spurdle, A. B., Vreeswijk, M. P. G., Easton, D. F. & NBCS Collaborators, 18.05.2022, In: GENOME MED. 14, 1, 51.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. Clinical implementation of RNA sequencing for Mendelian disease diagnostics

    Yépez, V. A., Gusic, M., Kopajtich, R., Mertes, C., Smith, N. H., Alston, C. L., Ban, R., Beblo, S., Berutti, R., Blessing, H., Ciara, E., Distelmaier, F., Freisinger, P., Häberle, J., Hayflick, S. J., Hempel, M., Itkis, Y. S., Kishita, Y., Klopstock, T., Krylova, T. D., Lamperti, C., Lenz, D., Makowski, C., Mosegaard, S., Müller, M. F., Muñoz-Pujol, G., Nadel, A., Ohtake, A., Okazaki, Y., Procopio, E., Schwarzmayr, T., Smet, J., Staufner, C., Stenton, S. L., Strom, T. M., Terrile, C., Tort, F., Van Coster, R., Vanlander, A., Wagner, M., Xu, M., Fang, F., Ghezzi, D., Mayr, J. A., Piekutowska-Abramczuk, D., Ribes, A., Rötig, A., Taylor, R. W., Wortmann, S. B., Murayama, K., Meitinger, T., Gagneur, J. & Prokisch, H., 05.04.2022, In: GENOME MED. 14, 1, 38.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. 2021

  9. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

    Mannucci, I., Dang, N. D. P., Huber, H., Murry, J. B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P. J., Berland, S., Bierhals, T., Bilan, F., Bindoff, L. A., Braathen, G. J., Busk, Ø. L., Chenbhanich, J., Denecke, J., Escobar, L. F., Estes, C., Fleischer, J., Groepper, D., Haaxma, C. A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Le Guyader, G., Ljungblad, U. W., Brenman, L. M., Martinez-Agosto, J. A., Might, M., Miller, D. T., Minks, K. Q., Moghaddam, B., Nava, C., Nelson, S. F., Parant, J. M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S. F., Schuurs-Hoeijmakers, J., Shieh, P. B., Slavotinek, A., Smithson, S., Stegmann, A. P. A., Tomczak, K., Tveten, K., Wang, J., Whitlock, J. H., Zweier, C., McWalter, K., Juusola, J., Quintero-Rivera, F., Fischer, U., Yeo, N. C., Kreienkamp, H-J. & Lessel, D., 21.05.2021, In: GENOME MED. 13, 1, p. 90

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., De Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C. A., Bhat, G., Cobian, K., Bird, L. M., Friedman, J., Wright, M. S., Callewaert, B., Petit, F., Mathieu, S., Afenjar, A., Christensen, C. K., White, K. M., Elpeleg, O., Berger, I., Espineli, E. J., Fagerberg, C., Brasch-Andersen, C., Hansen, L. K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., CAUSES Study, Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L. M., Mckee, S., Mirzaa, G. M., Muss, C., Pappas, J., Peeters, H., Romano, C., Elia, M., Galesi, O., Simon, M. E. H., van Gassen, K. L. I., Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I. V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R. K., Nowakowski, T., Bernier, R. A. & Eichler, E. E., 19.04.2021, In: GENOME MED. 13, 1, p. 63

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. 2019

  12. Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinoma

    HEPAVAC Consortium, 30.04.2019, In: GENOME MED. 11, 1, p. 28

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. 2018

  14. Advances in liquid biopsy approaches for early detection and monitoring of cancer

    Babayan, A. & Pantel, K., 20.03.2018, In: GENOME MED. 10, 1, p. 21

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  15. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

    Knaus, A., Pantel, J. T., Pendziwiat, M., Hajjir, N., Zhao, M., Hsieh, T-C., Schubach, M., Gurovich, Y., Fleischer, N., Jäger, M., Köhler, S., Muhle, H., Korff, C., Møller, R. S., Bayat, A., Calvas, P., Chassaing, N., Warren, H., Skinner, S., Louie, R., Evers, C., Bohn, M., Christen, H-J., van den Born, M., Obersztyn, E., Charzewska, A., Endziniene, M., Kortüm, F., Brown, N., Robinson, P. N., Schelhaas, H. J., Weber, Y., Helbig, I., Mundlos, S., Horn, D. & Krawitz, P. M., 09.01.2018, In: GENOME MED. 10, 1, p. 3

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. 2017

  17. Lessons learned from additional research analyses of unsolved clinical exome cases

    Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., Wiszniewski, W., Penney, S., Liu, P., Bi, W., Lalani, S. R., Schaaf, C. P., Wangler, M. F., Bacino, C. A., Lewis, R. A., Potocki, L., Graham, B. H., Belmont, J. W., Scaglia, F., Orange, J. S., Jhangiani, S. N., Chiang, T., Doddapaneni, H., Hu, J., Muzny, D. M., Xia, F., Beaudet, A. L., Boerwinkle, E., Eng, C. M., Plon, S. E., Sutton, V. R., Gibbs, R. A., Posey, J. E., Yang, Y. & Lupski, J. R., 21.03.2017, In: GENOME MED. 9, 1, p. 26

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. 2013

  19. Tumor-associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing

    Heitzer, E., Ulz, P., Belic, J., Gutschi, S., Quehenberger, F., Fischereder, K., Benezeder, T., Auer, M., Pischler, C., Mannweiler, S., Pichler, M., Eisner, F., Haeusler, M., Riethdorf, S., Pantel, K., Samonigg, H., Hoefler, G., Augustin, H., Geigl, J. B. & Speicher, M. R., 01.01.2013, In: GENOME MED. 5, 4, p. 30

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. Functional profiling of the gut microbiome in disease-associated inflammation

    Börnigen, D., Morgan, X. C., Franzosa, E. A., Ren, B., Xavier, R. J., Garrett, W. S. & Huttenhower, C., 2013, In: GENOME MED. 5, 7, p. 65

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research