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Jobanputra, Vaidehi, Wrzeszczynski, Kazimierz O., Buttner, Reinhard, Caldas, Carlos ORCID: 0000-0003-3547-1489, Cuppen, Edwin, Grimmond, Sean ORCID: 0000-0002-8102-7998, Haferlach, Torsten, Mullighan, Charles ORCID: 0000-0002-1871-1850, Schuh, Anna and Elemento, Olivier (2022). Clinical interpretation of whole-genome and whole-transcriptome sequencing for precision oncology. Semin. Cancer Biol., 84. S. 23 - 32. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 1096-3650
Meggendorfer, Manja, Jobanputra, Vaidehi, Wrzeszczynski, Kazimierz O., Roepman, Paul, de Bruijn, Ewart, Cuppen, Edwin, Buttner, Reinhard, Caldas, Carlos ORCID: 0000-0003-3547-1489, Grimmond, Sean ORCID: 0000-0002-8102-7998, Mullighan, Charles G., Elemento, Olivier, Rosenquist, Richard ORCID: 0000-0002-0211-8788, Schuh, Anna and Haferlach, Torsten (2022). Analytical demands to use whole-genome sequencing in precision oncology. Semin. Cancer Biol., 84. S. 16 - 23. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 1096-3650
Rosenquist, Richard ORCID: 0000-0002-0211-8788, Cuppen, Edwin, Buettner, Reinhard, Caldas, Carlos ORCID: 0000-0003-3547-1489, Dreau, Helene, Elemento, Olivier, Frederix, Geert, Grimmond, Sean ORCID: 0000-0002-8102-7998, Haferlach, Torsten, Jobanputra, Vaidehi, Meggendorfer, Manja, Mullighan, Charles G., Wordsworth, Sarah and Schuh, Anna (2022). Clinical utility of whole-genome sequencing in precision oncology. Semin. Cancer Biol., 84. S. 32 - 40. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 1096-3650
Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin ORCID: 0000-0003-2952-5030, Kitzler, Thomas M., Klambt, Verena ORCID: 0000-0003-1180-0794, Kolb, Amy, Mao, Youying, El Achkar, Christelle Moufawad, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmuller, Janine ORCID: 0000-0003-4372-1521, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi ORCID: 0000-0003-0586-9277, Shashi, Vandana, Trachtman, Howard ORCID: 0000-0001-7447-9489, Bodria, Monica, Caridi, Gianluca ORCID: 0000-0001-6700-3001, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda, V, Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka ORCID: 0000-0002-7878-6096, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O'Donnell-Luria, Anne ORCID: 0000-0001-6418-9592, Rehm, Heidi L., Mane, Shrikant, D'Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm and Sanna-Cherchi, Simone (2021). De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am. J. Hum. Genet., 108 (2). S. 357 - 368. CAMBRIDGE: CELL PRESS. ISSN 1537-6605