Robert Fulton

2025

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5

Undiagnosed Diseases Network, Jan 2025, In: Molecular genetics and metabolism. 144, 1, 109004.

Research output: Contribution to journal › Article › peer-review

Monitoring clonal burden as an alternative to blast count for myelodysplastic neoplasm treatment response: EARLY PHASE STUDIES

Jacoby, M. A., Duncavage, E. D., Khanna, A., Chang, G. S., Nonavinkere Srivatsan, S., Miller, C. A., Gao, F., Robinson, J., Shao, J., Fulton, R. S., Fronick, C. C., O’Laughlin, M., Heath, S. E., Brendel, K., Chavez, M., DiPersio, J. F., Abboud, C. N., Stockerl-Goldstein, K., Westervelt, P. & Cashen, A. & 7 others, Pusic, I., Oh, S. T., Welch, J. S., Wells, D. A., Loken, M. R., Uy, G. L. & Walter, M. J., Jan 2025, In: Leukemia. 39, 1, p. 166-177 12 p.

Research output: Contribution to journal › Article › peer-review

2024

Differential chromatin accessibility and transcriptional dynamics define breast cancer subtypes and their lineages

Iglesia, M. D., Jayasinghe, R. G., Chen, S., Terekhanova, N. V., Herndon, J. M., Storrs, E., Karpova, A., Zhou, D. C., Naser Al Deen, N., Shinkle, A. T., Lu, R. J. H., Caravan, W., Houston, A., Zhao, Y., Sato, K., Lal, P., Street, C., Martins Rodrigues, F., Southard-Smith, A. N. & Targino da Costa, A. L. N. & 40 others, Zhu, H., Mo, C. K., Crowson, L., Fulton, R. S., Wyczalkowski, M. A., Fronick, C. C., Fulton, L. A., Sun, H., Davies, S. R., Appelbaum, E. L., Chasnoff, S. E., Carmody, M., Brooks, C., Liu, R., Wendl, M. C., Oh, C., Bender, D., Cruchaga, C., Harari, O., Bredemeyer, A., Lavine, K., Bose, R., Margenthaler, J., Held, J. M., Achilefu, S., Ademuyiwa, F., Aft, R., Ma, C., Colditz, G. A., Ju, T., Oh, S. T., Fitzpatrick, J., Hwang, E. S., Shoghi, K. I., Chheda, M. G., Veis, D. J., Chen, F., Fields, R. C., Gillanders, W. E. & Ding, L., Nov 2024, In: Nature Cancer. 5, 11, p. 1713-1736 24 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Human whole-exome genotype data for Alzheimer’s disease

Leung, Y. Y., Naj, A. C., Chou, Y. F., Valladares, O., Schmidt, M., Hamilton-Nelson, K., Wheeler, N., Lin, H., Gangadharan, P., Qu, L., Clark, K., Kuzma, A. B., Lee, W. P., Cantwell, L., Nicaretta, H., van der Lee, S., English, A., Kalra, D., Muzny, D. & Skinner, E. & 121 others, Doddapeneni, H., Dinh, H., Hu, J., Santibanez, J., Jayaseelan, J., Worley, K., Gibbs, R. A., Lee, S., Dugan-Perez, S., Korchina, V., Nasser, W., Liu, X., Han, Y., Zhu, Y., Liu, Y., Khan, Z., Zhu, C., Sun, F. J., Jun, G. R., Chung, J., Farrell, J., Zhang, X., Banks, E., Gupta, N., Gabriel, S., Butkiewicz, M., Benchek, P., Smieszek, S., Song, Y., Vardarajan, B., Reitz, C., Reyes-Dumeyer, D., Tosto, G., De Jager, P. L., Barral, S., Ma, Y., Beiser, A., Liu, C. T., Dupuis, J., Lunetta, K., Cupples, L. A., Choi, S. H., Chen, Y., Mez, J., Vanderspek, A., Ikram, M. A., Ahmad, S., Faber, K., Foroud, T., Mlynarski, E., Schmidt, H., Schmidt, R., Kunkle, B., Rajabli, F., Beecham, G., Vance, J. M., Adams, L. D., Cuccaro, M., Mena, P., Booth, B. M., Renton, A., Goate, A., Marcora, E., Stine, A., Feolo, M., Launer, L. J., Koboldt, D. C., Wilson, R. K., van Duijn, C., Amin, N., Kapoor, M., Salerno, W., Bennett, D. A., Xia, L. C., Malamon, J., Mosley, T. H., Satizabal, C., Jan Bressler, B., Jian, X., Nato, A. Q., Horimoto, A. R., Wang, B., Psaty, B., Witten, D., Tsuang, D., Blue, E., Wijsman, E., Sohi, H., Nguyen, H., Bis, J. C., Rice, K., Brown, L., Dorschner, M., Saad, M., Navas, P., Nafikov, R., Thornton, T., Day, T., Haut, J., Sha, J., Zhang, N., Iqbal, T., Zhao, Y., Below, J. E., Larson, D. E., Appelbaum, E., Waligorski, J., Antonacci-Fulton, L., Fulton, R. S., Haines, J., Farrer, L., Seshadri, S., Brkanac, Z., Cruchaga, C., Pericak-Vance, M., Mayeux, R. P., Bush, W. S., Destefano, A., Martin, E., Schellenberg, G. D. & Wang, L. S., Dec 2024, In: Nature communications. 15, 1, 684.

Research output: Contribution to journal › Article › peer-review

Neoantigen landscape supports feasibility of personalized cancer vaccine for follicular lymphoma

Ramirez, C. A., Becker-Hapak, M., Singhal, K., Russler-Germain, D. A., Frenkel, F., Barnell, E. K., McClain, E. D., Desai, S., Schappe, T., Onyeador, O. C., Kudryashova, O., Belousov, V., Bagaev, A., Ocheredko, E., Kiwala, S., Hundal, J., Skidmore, Z. L., Watkins, M. P., Mooney, T. B. & Walker, J. R. & 13 others, Krysiak, K., Gomez, F., Fronick, C. C., Fulton, R. S., Schreiber, R. D., Mehta-Shah, N., Cashen, A. F., Kahl, B. S., Ataullakhanov, R., Bartlett, N. L., Griffith, M., Griffith, O. L. & Fehniger, T. A., Aug 13 2024, In: Blood Advances. 8, 15, p. 4035-4049 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Scopus citations

Pangenome graph construction from genome alignments with Minigraph-Cactus

Human Pangenome Reference Consortium, Apr 2024, In: Nature Biotechnology. 42, 4, p. 663-673 11 p.

Research output: Contribution to journal › Article › peer-review

97 Scopus citations

Single-cell T-cell receptor repertoire profiling in dogs

Hoang, M. H., Skidmore, Z. L., Rindt, H., Chu, S., Fisk, B., Foltz, J. A., Fronick, C., Fulton, R., Zhou, M., Bivens, N. J., Reinero, C. N., Fehniger, T. A., Griffith, M., Bryan, J. N. & Griffith, O. L., Dec 2024, In: Communications Biology. 7, 1, 484.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

2023

A draft human pangenome reference

Liao, W. W., Asri, M., Ebler, J., Doerr, D., Haukness, M., Hickey, G., Lu, S., Lucas, J. K., Monlong, J., Abel, H. J., Buonaiuto, S., Chang, X. H., Cheng, H., Chu, J., Colonna, V., Eizenga, J. M., Feng, X., Fischer, C., Fulton, R. S. & Garg, S. & 99 others, Groza, C., Guarracino, A., Harvey, W. T., Heumos, S., Howe, K., Jain, M., Lu, T. Y., Markello, C., Martin, F. J., Mitchell, M. W., Munson, K. M., Mwaniki, M. N., Novak, A. M., Olsen, H. E., Pesout, T., Porubsky, D., Prins, P., Sibbesen, J. A., Sirén, J., Tomlinson, C., Villani, F., Vollger, M. R., Antonacci-Fulton, L. L., Baid, G., Baker, C. A., Belyaeva, A., Billis, K., Carroll, A., Chang, P. C., Cody, S., Cook, D. E., Cook-Deegan, R. M., Cornejo, O. E., Diekhans, M., Ebert, P., Fairley, S., Fedrigo, O., Felsenfeld, A. L., Formenti, G., Frankish, A., Gao, Y., Garrison, N. A., Giron, C. G., Green, R. E., Haggerty, L., Hoekzema, K., Hourlier, T., Ji, H. P., Kenny, E. E., Koenig, B. A., Kolesnikov, A., Korbel, J. O., Kordosky, J., Koren, S., Lee, H. J., Lewis, A. P., Magalhães, H., Marco-Sola, S., Marijon, P., McCartney, A., McDaniel, J., Mountcastle, J., Nattestad, M., Nurk, S., Olson, N. D., Popejoy, A. B., Puiu, D., Rautiainen, M., Regier, A. A., Rhie, A., Sacco, S., Sanders, A. D., Schneider, V. A., Schultz, B. I., Shafin, K., Smith, M. W., Sofia, H. J., Abou Tayoun, A. N., Thibaud-Nissen, F., Tricomi, F. F., Wagner, J., Walenz, B., Wood, J. M. D., Zimin, A. V., Bourque, G., Chaisson, M. J. P., Flicek, P., Phillippy, A. M., Zook, J. M., Eichler, E. E., Haussler, D., Wang, T., Jarvis, E. D., Miga, K. H., Garrison, E., Marschall, T., Hall, I. M., Li, H. & Paten, B., May 11 2023, In: Nature. 617, 7960, p. 312-324 13 p.

Research output: Contribution to journal › Article › peer-review

431 Scopus citations

Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x)

PCAWG Consortium, Yuan, Y., Ju, Y. S., Kim, Y., Li, J., Wang, Y., Yoon, C. J., Yang, Y., Martincorena, I., Creighton, C. J., Weinstein, J. N., Xu, Y., Han, L., Kim, H. L., Nakagawa, H., Park, K., Campbell, P. J., Liang, H., Aaltonen, L. A. & Abascal, F. & 181 others, Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Beroukhim, R., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Boutros, P. C., Bova, G. S., Bowen, D. T., Bowlby, R., Bowtell, D. D. L., Boyault, S., Boyce, R., Boyd, J., Brazma, A., Brennan, P., Brewer, D. S., Brinkman, A. B., Bristow, R. G., Broaddus, R. R., Brock, J. E., Brock, M., Broeks, A., Brooks, A. N., Brooks, D., Brors, B., Brunak, S., Bruxner, T. J. C., Bruzos, A. L., Buchanan, A., Buchhalter, I., Buchholz, C., Bullman, S., Burke, H., Burkhardt, B., Burns, K. H., Busanovich, J., Bustamante, C. D., Butler, A. P., Butte, A. J., Byrne, N. J., Børresen-Dale, A. L., Caesar-Johnson, S. J., Cafferkey, A., Cahill, D., Calabrese, C., Caldas, C., Calvo, F., Camacho, N., Campbell, P. J., Campo, E., Cantù, C., Cao, S., Carey, T. E., Carlevaro-Fita, J., Carlsen, R., Cataldo, I., Cazzola, M., Cebon, J., Cerfolio, R., Chadwick, D. E., Chakravarty, D., Chalmers, D., Chan, C. W. Y., Chan, K., Chan-Seng-Yue, M., Chandan, V. S., Chang, D. K., Chanock, S. J., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Jun 2023, In: Nature Genetics. 55, 6, p. 1078 1 p.

Research output: Contribution to journal › Comment/debate

Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition (Nature Genetics, (2020), 52, 3, (306-319), 10.1038/s41588-019-0562-0)

PCAWG-Structural Variation Working Group & PCAWG Consortium, Jun 2023, In: Nature Genetics. 55, 6, p. 1080 1 p.

Research output: Contribution to journal › Comment/debate

1 Scopus citations

Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing (Nature Genetics, (2020), 52, 3, (331-341), 10.1038/s41588-019-0576-7)

PCAWG-Structural Variation Working Group, PCAWG Consortium, Cortés-Ciriano, I., Lee, J. J. K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C. Z., Pellman, D. S., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Beroukhim, R., Boutros, P. C., Bowtell, D. D. L., Brors, B. & Burns, K. H. & 182 others, Campbell, P. J., Chan, K., Chen, K., Cortés-Ciriano, I., Dueso-Barroso, A., Dunford, A. J., Edwards, P. A., Estivill, X., Etemadmoghadam, D., Feuerbach, L., Fink, J. L., Frenkel-Morgenstern, M., Garsed, D. W., Gerstein, M., Gordenin, D. A., Haan, D., Haber, J. E., Hess, J. M., Hutter, B., Imielinski, M., Jones, D. T. W., Ju, Y. S., Kazanov, M. D., Koh, Y., Korbel, J. O., Kumar, K., Lee, E. A., Li, Y., Lynch, A. G., Macintyre, G., Markowetz, F., Martincorena, I., Martinez-Fundichely, A., Miyano, S., Nakagawa, H., Navarro, F. C. P., Ossowski, S., Pearson, J. V., Puiggròs, M., Rippe, K., Roberts, N. D., Roberts, S. A., Rodriguez-Martin, B., Schumacher, S. E., Scully, R., Shackleton, M., Sidiropoulos, N., Sieverling, L., Stewart, C., Torrents, D., Tubio, J. M. C., Villasante, I., Waddell, N., Wala, J. A., Weischenfeldt, J., Yang, L., Yao, X., Yoon, S. S., Zamora, J., Park, P. J., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Boutros, P. C., Bova, G. S., Bowen, D. T., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Muyas, F. & Werner, J., Jun 2023, In: Nature Genetics. 55, 6, p. 1076 1 p.

Research output: Contribution to journal › Comment/debate

1 Scopus citations

Author Correction: Pan-cancer analysis of whole genomes (Nature, (2020), 578, 7793, (82-93), 10.1038/s41586-020-1969-6)

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Feb 16 2023, In: Nature. 614, 7948, p. E39

Research output: Contribution to journal › Comment/debate

2 Scopus citations

Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x)

PCAWG Consortium, Yuan, Y., Ju, Y. S., Kim, Y., Li, J., Wang, Y., Yoon, C. J., Yang, Y., Martincorena, I., Creighton, C. J., Weinstein, J. N., Xu, Y., Han, L., Kim, H. L., Nakagawa, H., Park, K., Campbell, P. J., Liang, H., Aaltonen, L. A. & Abascal, F. & 181 others, Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Beroukhim, R., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Boutros, P. C., Bova, G. S., Bowen, D. T., Bowlby, R., Bowtell, D. D. L., Boyault, S., Boyce, R., Boyd, J., Brazma, A., Brennan, P., Brewer, D. S., Brinkman, A. B., Bristow, R. G., Broaddus, R. R., Brock, J. E., Brock, M., Broeks, A., Brooks, A. N., Brooks, D., Brors, B., Brunak, S., Bruxner, T. J. C., Bruzos, A. L., Buchanan, A., Buchhalter, I., Buchholz, C., Bullman, S., Burke, H., Burkhardt, B., Burns, K. H., Busanovich, J., Bustamante, C. D., Butler, A. P., Butte, A. J., Byrne, N. J., Børresen-Dale, A. L., Caesar-Johnson, S. J., Cafferkey, A., Cahill, D., Calabrese, C., Caldas, C., Calvo, F., Camacho, N., Campbell, P. J., Campo, E., Cantù, C., Cao, S., Carey, T. E., Carlevaro-Fita, J., Carlsen, R., Cataldo, I., Cazzola, M., Cebon, J., Cerfolio, R., Chadwick, D. E., Chakravarty, D., Chalmers, D., Chan, C. W. Y., Chan, K., Chan-Seng-Yue, M., Chandan, V. S., Chang, D. K., Chanock, S. J., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., May 2023, In: Nature Genetics. 55, 5, p. 892 1 p.

Research output: Contribution to journal › Comment/debate

2 Scopus citations

Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes (Nature Biotechnology, (2020), 38, 3, (288-292), 10.1038/s41587-019-0360-3)

PCAWG Technical Working Group & PCAWG Consortium, Apr 2023, In: Nature Biotechnology. 41, 4, p. 577 1 p.

Research output: Contribution to journal › Comment/debate

Author Correction: The evolutionary history of 2,658 cancers (Nature, (2020), 578, 7793, (122-128), 10.1038/s41586-019-1907-7)

PCAWG Evolution & Heterogeneity Working Group, PCAWG Consortium, Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., Tarabichi, M., Deshwar, A., Wintersinger, J., Kleinheinz, K., Vázquez-García, I., Haase, K., Jerman, L. & Sengupta, S. & 182 others, Macintyre, G., Malikic, S., Donmez, N., Livitz, D. G., Cmero, M., Demeulemeester, J., Schumacher, S., Fan, Y., Yao, X., Lee, J., Schlesner, M., Boutros, P. C., Bowtell, D. D. L., Zhu, H., Getz, G., Imielinski, M., Beroukhim, R., Sahinalp, S. C., Ji, Y., Peifer, M., Markowetz, F., Mustonen, V., Yuan, K., Wang, W., Morris, Q. D., Dentro, S. C., Leshchiner, I., Gerstung, M., Jolly, C., Haase, K., Tarabichi, M., Wintersinger, J., Deshwar, A. G., Yu, K., Gonzalez, S., Rubanova, Y., Macintyre, G., Adams, D. J., Anur, P., Boutros, P. C., Campbell, P. J., Cao, S., Christie, E. L., Cmero, M., Cun, Y., Dawson, K. J., Demeulemeester, J., Donmez, N., Drews, R. M., Fan, Y., Fittall, M., Garsed, D. W., Getz, G., Ha, G., Imielinski, M., Jerman, L., Ji, Y., Kleinheinz, K., Lee, J., Lee-Six, H., Livitz, D. G., Malikic, S., Markowetz, F., Martincorena, I., Mitchell, T. J., Mustonen, V., Oesper, L., Peifer, M., Peto, M., Raphael, B. J., Rosebrock, D., Sahinalp, S. C., Salcedo, A., Schlesner, M., Schumacher, S., Sengupta, S., Shi, R., Shin, S. J., Spiro, O., Stein, L. D., Vázquez-García, I., Vembu, S., Wheeler, D. A., Yang, T. P., Yao, X., Yuan, K., Zhu, H., Wang, W., Morris, Q. D., Spellman, P. T., Wedge, D. C., Van Loo, P., Wedge, D. C., Van Loo, P., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Feb 16 2023, In: Nature. 614, 7948, p. E42

Research output: Contribution to journal › Comment/debate

2 Scopus citations

Author Correction: Analyses of non-coding somatic drivers in 2,658 cancer whole genomes (Nature, (2020), 578, 7793, (102-111), 10.1038/s41586-020-1965-x)

PCAWG Drivers and Functional Interpretation Working Group, PCAWG-Structural Variation Working Group & PCAWG Consortium, Feb 16 2023, In: Nature. 614, 7948, p. E40

Research output: Contribution to journal › Comment/debate

2 Scopus citations

Author Correction: The repertoire of mutational signatures in human cancer (Nature, (2020), 578, 7793, (94-101), 10.1038/s41586-020-1943-3)

PCAWG Mutational Signatures Working Group, PCAWG Consortium, Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., Islam, S. M. A., Lopez-Bigas, N., Klimczak, L. J., McPherson, J. R., Morganella, S., Sabarinathan, R., Wheeler, D. A. & Mustonen, V. & 182 others, Alexandrov, L. B., Bergstrom, E. N., Boot, A., Boutros, P., Chan, K., Covington, K. R., Fujimoto, A., Getz, G., Gordenin, D. A., Haradhvala, N. J., Huang, M. N., Islam, S. M. A., Kazanov, M., Kim, J., Klimczak, L. J., Lawrence, M., Martincorena, I., McPherson, J. R., Morganella, S., Mustonen, V., Nakagawa, H., Tian Ng, A. W., Polak, P., Prokopec, S., Roberts, S. A., Rozen, S. G., Sabarinathan, R., Saini, N., Shibata, T., Shiraishi, Y., Stratton, M. R., Teh, B. T., Vázquez-García, I., Wheeler, D. A., Wu, Y., Yousif, F., Yu, W., Getz, G., Rozen, S. G., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Beroukhim, R., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Boutros, P. C., Bova, G. S., Bowen, D. T., Bowlby, R., Bowtell, D. D. L., Boyault, S., Boyce, R., Boyd, J., Brazma, A., Brennan, P., Brewer, D. S., Brinkman, A. B., Bristow, R. G., Broaddus, R. R., Brock, J. E., Brock, M., Broeks, A., Brooks, A. N., Brooks, D., Brors, B., Brunak, S., Bruxner, T. J. C., Bruzos, A. L., Buchanan, A., Ding, L., Fulton, L. A., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Feb 16 2023, In: Nature. 614, 7948, p. E41

Research output: Contribution to journal › Comment/debate

6 Scopus citations

Author Correction: The landscape of viral associations in human cancers (Nature Genetics, (2020), 52, 3, (320-330), 10.1038/s41588-019-0558-9)

PCAWG Pathogens, PCAWG Consortium, Zapatka, M., Borozan, I., Brewer, D. S., Iskar, M., Grundhoff, A., Alawi, M., Desai, N., Sültmann, H., Moch, H., Alawi, M., Borozan, I., Cooper, C. S., Desai, N., Eils, R., Ferretti, V., Grundhoff, A., Iskar, M. & Kleinheinz, K. & 182 others, Lichter, P., Nakagawa, H., Ojesina, A. I., Pedamallu, C. S., Schlesner, M., Su, X., Zapatka, M., Cooper, C. S., Ferretti, V., Lichter, P., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Beroukhim, R., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Boutros, P. C., Bova, G. S., Bowen, D. T., Bowlby, R., Bowtell, D. D. L., Boyault, S., Boyce, R., Boyd, J., Brazma, A., Brennan, P., Brinkman, A. B., Bristow, R. G., Broaddus, R. R., Brock, J. E., Brock, M., Broeks, A., Brooks, A. N., Brooks, D., Brors, B., Brunak, S., Bruxner, T. J. C., Bruzos, A. L., Buchanan, A., Buchhalter, I., Buchholz, C., Bullman, S., Burke, H., Burkhardt, B., Burns, K. H., Busanovich, J., Bustamante, C. D., Butler, A. P., Butte, A. J., Byrne, N. J., Børresen-Dale, A. L., Caesar-Johnson, S. J., Cafferkey, A., Cahill, D., Calabrese, C., Caldas, C., Calvo, F., Camacho, N., Campbell, P. J., Campo, E., Cantù, C., Cao, S., Carey, T. E., Carlevaro-Fita, J., Carlsen, R., Cataldo, I., Cazzola, M., Cebon, J., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Jun 2023, In: Nature Genetics. 55, 6, p. 1077 1 p.

Research output: Contribution to journal › Comment/debate

Author Correction: Genomic basis for RNA alterations in cancer (Nature, (2020), 578, 7793, (129-136), 10.1038/s41586-020-1970-0)

PCAWG Transcriptome Core Group, PCAWG Transcriptome Working Group & PCAWG Consortium, Feb 16 2023, In: Nature. 614, 7948, p. E37

Research output: Contribution to journal › Comment/debate

Author Correction: Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer (Nature Genetics, (2020), 52, 3, (294-305), 10.1038/s41588-019-0564-y)

PCAWG-Structural Variation Working Group, PCAWG Consortium, Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Boutros, P. C., Bowtell, D. D. L., Brors, B., Burns, K. H. & Campbell, P. J. & 182 others, Chan, K., Chen, K., Cortés-Ciriano, I., Dueso-Barroso, A., Dunford, A. J., Edwards, P. A., Estivill, X., Etemadmoghadam, D., Feuerbach, L., Fink, J. L., Frenkel-Morgenstern, M., Garsed, D. W., Gerstein, M., Gordenin, D. A., Haan, D., Haber, J. E., Hess, J. M., Hutter, B., Imielinski, M., Jones, D. T. W., Ju, Y. S., Kazanov, M. D., Klimczak, L. J., Koh, Y., Korbel, J. O., Kumar, K., Lee, E. A., Lee, J. J. K., Li, Y., Lynch, A. G., Macintyre, G., Markowetz, F., Martincorena, I., Martinez-Fundichely, A., Meyerson, M., Miyano, S., Nakagawa, H., Navarro, F. C. P., Ossowski, S., Park, P. J., Pearson, J. V., Puiggròs, M., Rippe, K., Roberts, N. D., Roberts, S. A., Rodriguez-Martin, B., Schumacher, S. E., Scully, R., Shackleton, M., Sidiropoulos, N., Sieverling, L., Stewart, C., Torrents, D., Tubio, J. M. C., Villasante, I., Waddell, N., Wala, J. A., Weischenfeldt, J., Yang, L., Yao, X., Yoon, S. S., Zamora, J., Zhang, C. Z., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Muyas, F. & Werner, J., Jun 2023, In: Nature Genetics. 55, 6, p. 1079 1 p.

Research output: Contribution to journal › Comment/debate

Author Correction: Patterns of somatic structural variation in human cancer genomes (Nature, (2020), 578, 7793, (112-121), 10.1038/s41586-019-1913-9)

PCAWG-Structural Variation Working Group & PCAWG Consortium, Feb 16 2023, In: Nature. 614, 7948, p. E38

Research output: Contribution to journal › Comment/debate

2 Scopus citations

DIAGNOSTICS Persistent Molecular Disease in Adult Patients With AML Evaluated With Whole-Exome and Targeted Error-Corrected DNA Sequencing

Slade, M. J., Ghasemi, R., O’Laughlin, M., Burton, T., Fulton, R. S., Abel, H. J., Duncavage, E. J., Ley, T. J., Jacoby, M. A. & Spencer, D. H., 2023, In: JCO Precision Oncology. 7, e2200559.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Scopus citations

Gaps and complex structurally variant loci in phased genome assemblies

Human Pangenome Reference Consortium, Apr 2023, In: Genome research. 33, 4, p. 496-510 15 p.

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

Genomic landscape of TP53-mutated myeloid malignancies

Abel, H. J., Oetjen, K. A., Miller, C. A., Ramakrishnan, S. M., Day, R. B., Helton, N. M., Fronick, C. C., Fulton, R. S., Heath, S. E., Tarnawsky, S. P., Srivatsan, S. N., Duncavage, E. J., Schroeder, M. C., Payton, J. E., Spencer, D. H., Walter, M. J., Westervelt, P., DiPersio, J. F., Ley, T. J. & Link, D. C., Aug 16 2023, In: Blood Advances. 7, 16, p. 4586-4598 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

17 Scopus citations

Increased mutation and gene conversion within human segmental duplications

Human Pangenome Reference Consortium, Abel, H. J., Antonacci-Fulton, L. L., Fulton, R. S., Hall, I., Liao, W. W., Regier, A., Tomlinson, C. & Wang, T., May 11 2023, In: Nature. 617, 7960, p. 325-334 10 p.

Research output: Contribution to journal › Article › peer-review

44 Scopus citations

Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome

Human Pangenome Reference Consortium, Aug 28 2023, In: Cell Reports Methods. 3, 8, 100543.

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Publisher Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x)

PCAWG Consortium, Yuan, Y., Ju, Y. S., Kim, Y., Li, J., Wang, Y., Yoon, C. J., Yang, Y., Martincorena, I., Creighton, C. J., Weinstein, J. N., Xu, Y., Han, L., Kim, H. L., Nakagawa, H., Park, K., Campbell, P. J., Liang, H., Aaltonen, L. A. & Abascal, F. & 181 others, Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Beroukhim, R., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Boutros, P. C., Bova, G. S., Bowen, D. T., Bowlby, R., Bowtell, D. D. L., Boyault, S., Boyce, R., Boyd, J., Brazma, A., Brennan, P., Brewer, D. S., Brinkman, A. B., Bristow, R. G., Broaddus, R. R., Brock, J. E., Brock, M., Broeks, A., Brooks, A. N., Brooks, D., Brors, B., Brunak, S., Bruxner, T. J. C., Bruzos, A. L., Buchanan, A., Buchhalter, I., Buchholz, C., Bullman, S., Burke, H., Burkhardt, B., Burns, K. H., Busanovich, J., Bustamante, C. D., Butler, A. P., Butte, A. J., Byrne, N. J., Børresen-Dale, A. L., Caesar-Johnson, S. J., Cafferkey, A., Cahill, D., Calabrese, C., Caldas, C., Calvo, F., Camacho, N., Campbell, P. J., Campo, E., Cantù, C., Cao, S., Carey, T. E., Carlevaro-Fita, J., Carlsen, R., Cataldo, I., Cazzola, M., Cebon, J., Cerfolio, R., Chadwick, D. E., Chakravarty, D., Chalmers, D., Chan, C. W. Y., Chan, K., Chan-Seng-Yue, M., Chandan, V. S., Chang, D. K., Chanock, S. J., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., May 2023, In: Nature Genetics. 55, 5, p. 893 1 p.

Research output: Contribution to journal › Comment/debate

1 Scopus citations

Recombination between heterologous human acrocentric chromosomes

Human Pangenome Reference Consortium, Abel, H. J., Antonacci-Fulton, L. L., Fulton, R. S., Hall, I., Liao, W. W., Regier, A. & Wang, T., May 11 2023, In: Nature. 617, 7960, p. 335-343 9 p.

Research output: Contribution to journal › Article › peer-review

59 Scopus citations

Ultra-Deep Sequencing Reveals the Mutational Landscape of Classical Hodgkin Lymphoma

Gomez, F., Fisk, B., McMichael, J. F., Mosior, M., Foltz, J. A., Skidmore, Z. L., Duncavage, E. J., Miller, C. A., Abel, H., Li, Y. S., Russler-Germain, D. A., Krysiak, K., Watkins, M. P., Ramirez, C. A., Schmidt, A., Rodrigues, F. M., Trani, L., Khanna, A., Wagner, J. A. & Fulton, R. S. & 11 others, Fronick, C. C., O'Laughlin, M. D., Schappe, T., Cashen, A. F., Mehta-Shah, N., Kahl, B. S., Walker, J., Bartlett, N. L., Griffith, M., Fehniger, T. A. & Griffith, O. L., Nov 2023, In: Cancer research communications. 3, 11, p. 2312-2330 19 p.

Research output: Contribution to journal › Article › peer-review

Open Access

9 Scopus citations

Utility of targeted gene sequencing to differentiate myeloid malignancies from other cytopenic conditions

DeZern, A. E., Goll, J. B., Lindsley, R. C., Bejar, R., Wilson, S. H., Hebert, D., Deeg, J., Zhang, L., Gore, S., Baghdadi, T. A., Maciejewski, J., Liu, J., Padron, E., Komrojki, R., Saber, W., Abel, G., Kroft, S. H., Harrington, A., Grimes, T. & Reed, H. & 5 others, Fulton, R. S., DiFronzo, N. L., Gillis, N., Sekeres, M. A. & Walter, M. J., Jul 25 2023, In: Blood Advances. 7, 14, p. 3749-3759 11 p.

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

2022

Author Correction: Pathway and network analysis of more than 2500 whole cancer genomes (Nature Communications, (2020), 11, 1, (729), 10.1038/s41467-020-14367-0)

PCAWG Drivers and Functional Interpretation Working Group, PCAWG Consortium, Appelbaum, E. L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2022, In: Nature communications. 13, 1, 7566.

Research output: Contribution to journal › Comment/debate

1 Scopus citations

Author Correction: Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig (Nature Communications, (2020), 11, 1, (731), 10.1038/s41467-020-14352-7)

PCAWG Evolution and Heterogeneity Working Group, PCAWG Consortium, Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2022, In: Nature communications. 13, 1, 7567.

Research output: Contribution to journal › Comment/debate

Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer (Nature Communications, (2020), 11, 1, (733), 10.1038/s41467-019-13824-9)

PCAWG-Structural Variation Working Group, PCAWG Consortium, Borst, C., Fulton, L. A., Fulton, R. S., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2022, In: Nature communications. 13, 1, 7574.

Research output: Contribution to journal › Comment/debate

Author Correction: Divergent mutational processes distinguish hypoxic and normoxic tumours (Nature Communications, (2020), 11, 1, (737), 10.1038/s41467-019-14052-x)

PCAWG Consortium, Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 2022, In: Nature communications. 13, 1, 7569.

Research output: Contribution to journal › Comment/debate

1 Scopus citations

Author Correction: Comparative and demographic analysis of orang-utan genomes (Nature, (2011), 469, 7331, (529-533), 10.1038/nature09687)

Locke, D. P., Hillier, L. D. W., Warren, W. C., Worley, K. C., Nazareth, L. V., Muzny, D. M., Yang, S. P., Wang, Z., Chinwalla, A. T., Minx, P., Mitreva, M., Cook, L., Delehaunty, K. D., Fronick, C., Schmidt, H., Fulton, L. A., Fulton, R. S., Nelson, J. O., Magrini, V. & Pohl, C. & 81 others, Graves, T. A., Markovic, C., Cree, A., Dinh, H. H., Hume, J., Kovar, C. L., Fowler, G. R., Lunter, G., Meader, S., Heger, A., Ponting, C. P., Marques-Bonet, T., Alkan, C., Chen, L., Cheng, Z., Kidd, J. M., Eichler, E. E., White, S., Searle, S., Vilella, A. J., Chen, Y., Flicek, P., Ma, J., Raney, B., Suh, B., Burhans, R., Herrero, J., Haussler, D., Faria, R., Fernando, O., Darré, F., Farré, D., Gazave, E., Oliva, M., Navarro, A., Roberto, R., Capozzi, O., Archidiacono, N., Della Valle, G., Purgato, S., Rocchi, M., Konkel, M. K., Walker, J. A., Ullmer, B., Batzer, M. A., Smit, A. F. A., Hubley, R., Casola, C., Schrider, D. R., Hahn, M. W., Quesada, V., Puente, X. S., Ordoñez, G. R., López-Otín, C., Vinar, T., Brejova, B., Ratan, A., Harris, R. S., Miller, W., Kosiol, C., Lawson, H. A., Taliwal, V., Martins, A. L., Siepel, A., RoyChoudhury, A., Ma, X., Degenhardt, J., Bustamante, C. D., Gutenkunst, R. N., Mailund, T., Dutheil, J. Y., Hobolth, A., Schierup, M. H., Ryder, O. A., Yoshinaga, Y., de Jong, P. J., Weinstock, G. M., Rogers, J., Mardis, E. R., Gibbs, R. A. & Wilson, R. K., Aug 25 2022, In: Nature. 608, 7924, p. E36

Research output: Contribution to journal › Comment/debate

Open Access

1 Scopus citations

Author Correction: Integrative pathway enrichment analysis of multivariate omics data (Nature Communications, (2020), 11, 1, (735), 10.1038/s41467-019-13983-9)

PCAWG Drivers and Functional Interpretation Working Group, PCAWG Consortium, Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2022, In: Nature communications. 13, 1, 7570.

Research output: Contribution to journal › Comment/debate

Author Correction: Inferring structural variant cancer cell fraction (Nature Communications, (2020), 11, 1, (730), 10.1038/s41467-020-14351-8)

PCAWG Evolution and Heterogeneity Working Group, PCAWG Consortium, Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2022, In: Nature communications. 13, 1, 7568.

Research output: Contribution to journal › Comment/debate

Author Correction: Combined burden and functional impact tests for cancer driver discovery using DriverPower (Nature Communications, (2020), 11, 1, (734), 10.1038/s41467-019-13929-1)

PCAWG Drivers and Functional Interpretation Working Group, PCAWG Consortium, Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2022, In: Nature communications. 13, 1, 7571.

Research output: Contribution to journal › Comment/debate

Author Correction: A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns (Nature Communications, (2020), 11, 1, (728), 10.1038/s41467-019-13825-8)

PCAWG Tumor Subtypes and Clinical Translation Working Group, PCAWG Consortium, Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 2022, In: Nature communications. 13, 1, 7573.

Research output: Contribution to journal › Comment/debate

1 Scopus citations

Author Correction: A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing (Nature Communications, (2019), 10, 1, (3660), 10.1038/s41467-019-11591-1)

Petti, A. A., Williams, S. R., Miller, C., Fiddes, I. T., Srivatsan, S. N., Chen, D., Fronick, C. C., Fulton, R., Church, D. M. & Ley, T. J., Dec 2022, In: Nature communications. 13, 1, 4216.

Research output: Contribution to journal › Comment/debate

Open Access

2 Scopus citations

Author Correction: High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations (Nature Communications, (2020), 11, 1, (736), 10.1038/s41467-019-13885-w)

PCAWG Transcriptome Working Group, PCAWG-Structural Variation Working Group, PCAWG Consortium, Appelbaum, E. L., Aukema, S., Fulton, L. A., Fulton, R. S., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2022, In: Nature communications. 13, 1, 7572.

Research output: Contribution to journal › Comment/debate

Convergent Clonal Evolution of Signaling Gene Mutations Is a Hallmark of Myelodysplastic Syndrome Progression

Menssen, A. J., Khanna, A., Miller, C. A., Srivatsan, S. N., Chang, G. S., Shao, J., Robinson, J., O’Laughlin, M., Fronick, C. C., Fulton, R. S., Brendel, K., Heath, S. E., Saba, R., Welch, J. S., Spencer, D. H., Payton, J. E., Westervelt, P., DiPersio, J. F., Link, D. C. & Schuelke, M. J. & 4 others, Jacoby, M. A., Duncavage, E. J., Ley, T. J. & Walter, M. J., Jul 1 2022, In: Blood cancer discovery. 3, 4, p. 330-345 16 p.

Research output: Contribution to journal › Article › peer-review

Open Access

16 Scopus citations

Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence

Miller, C. A., Walker, J. R., Jensen, T. L., Hooper, W. F., Fulton, R. S., Painter, J. S., Sekeres, M. A., Ley, T. J., Spencer, D. H., Goll, J. B. & Walter, M. J., Mar 2022, In: Journal of Molecular Diagnostics. 24, 3, p. 219-223 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

16 Scopus citations

Focal disruption of DNA methylation dynamics at enhancers in IDH-mutant AML cells

Wilson, E. R., Helton, N. M., Heath, S. E., Fulton, R., Payton, J. E., Welch, J., Walter, M., Westervelt, P., DiPersio, J. F., Link, D. C., Miller, C., Ley, T. J. & Spencer, D., Apr 2022, In: Leukemia. 36, 4, p. 935-945 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

19 Scopus citations

Genetic and Transcriptional Contributions to Relapse in Normal Karyotype Acute Myeloid Leukemia

Petti, A. A., Khan, S. M., Xu, Z., Helton, N., Fronick, C. C., Fulton, R., Ramakrishnan, S. M., Srivatsan, S. N., Heath, S. E., Westervelt, P., Payton, J. E., Walter, M. J., Link, D. C., DiPersio, J., Miller, C. & Ley, T. J., Jan 1 2022, In: Blood cancer discovery. 3, 1, p. 32-49 18 p.

Research output: Contribution to journal › Article › peer-review

Open Access

16 Scopus citations

Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers

Skidmore, Z. L., Kunisaki, J., Lin, Y., Cotto, K. C., Barnell, E. K., Hundal, J., Krysiak, K., Magrini, V., Trani, L., Walker, J. R., Fulton, R., Brunt, E. M., Miller, C. A., Wilson, R. K., Mardis, E. R., Griffith, M., Chapman, W. & Griffith, O. L., Jun 2022, In: Cancer Genetics. 264-265, p. 90-99 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Scopus citations