Department of Genetics

2020

Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis

PCAWG Drivers and Functional Interpretation Group, PCAWG Consortium, Carlevaro-Fita, J., Lanzós, A., Feuerbach, L., Hong, C., Mas-Ponte, D., Pedersen, J. S., Johnson, R., Abascal, F., Amin, S. B., Bader, G. D., Barenboim, J., Beroukhim, R., Bertl, J., Boroevich, K. A., Brunak, S., Campbell, P. J., Chakravarty, D. & Chan, C. W. Y. & 182 others, Chen, K., Choi, J. K., Deu-Pons, J., Dhingra, P., Diamanti, K., Fink, J. L., Fonseca, N. A., Frigola, J., Gambacorti-Passerini, C., Garsed, D. W., Gerstein, M., Getz, G., Gonzalez-Perez, A., Guo, Q., Gut, I. G., Haan, D., Hamilton, M. P., Haradhvala, N. J., Harmanci, A. O., Helmy, M., Herrmann, C., Hess, J. M., Hobolth, A., Hodzic, E., Hornshøj, H., Isaev, K., Izarzugaza, J. M. G., Johnson, T. A., Juul, M., Juul, R. I., Kahles, A., Kahraman, A., Kellis, M., Khurana, E., Kim, J., Kim, J. K., Kim, Y., Komorowski, J., Korbel, J. O., Kumar, S., Larsson, E., Lawrence, M. S., Lee, D., Lehmann, K. V., Li, S., Li, X., Lin, Z., Liu, E. M., Lochovsky, L., Lou, S., Madsen, T., Marchal, K., Martincorena, I., Martinez-Fundichely, A., Maruvka, Y. E., McGillivray, P. D., Meyerson, W., Muiños, F., Mularoni, L., Nakagawa, H., Nielsen, M. M., Paczkowska, M., Park, K., Park, K., Pich, O., Pons, T., Pulido-Tamayo, S., Raphael, B. J., Reimand, J., Reyes-Salazar, I., Reyna, M. A., Rheinbay, E., Rubin, M. A., Rubio-Perez, C., Sabarinathan, R., Sahinalp, S. C., Saksena, G., Salichos, L., Sander, C., Schumacher, S. E., Shackleton, M., Shapira, O., Shen, C., Shrestha, R., Shuai, S., Sidiropoulos, N., Sieverling, L., Sinnott-Armstrong, N., Stein, L. D., Stuart, J. M., Tamborero, D., Tiao, G., Tsunoda, T., Umer, H. M., Uusküla-Reimand, L., Valencia, A., Vazquez, M., Verbeke, L. P. C., Wadelius, C., Wadi, L., Wang, J., Warrell, J., Waszak, S. M., Weischenfeldt, J., Wheeler, D. A., Wu, G., Yu, J., Zhang, J., Zhang, X., Zhang, Y., Zhao, Z., Zou, L., von Mering, C., Aaltonen, L. A., 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., 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., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2020, In: Communications Biology. 3, 1, 56.

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

Open Access

149 Scopus citations

Carbohydrate and fat intake associated with risk of metabolic diseases through epigenetics of CPT1A

Lai, C. Q., Parnell, L. D., Smith, C. E., Guo, T., Sayols-Baixeras, S., Aslibekyan, S., Tiwari, H. K., Irvin, M. R., Bender, C., Fei, D., Hidalgo, B., Hopkins, P. N., Absher, D. M., Province, M. A., Elosua, R., Arnett, D. K. & Ordovas, J. M., Nov 1 2020, In: American Journal of Clinical Nutrition. 112, 5, p. 1200-1211 12 p.

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

Open Access

52 Scopus citations

CCDC61/VFL3 Is a Paralog of SAS6 and Promotes Ciliary Functions

Ochi, T., Quarantotti, V., Lin, H., Jullien, J., Rosa e Silva, I., Boselli, F., Barnabas, D. D., Johnson, C. M., McLaughlin, S. H., Freund, S. M. V., Blackford, A. N., Kimata, Y., Goldstein, R. E., Jackson, S. P., Blundell, T. L., Dutcher, S. K., Gergely, F. & van Breugel, M., Jun 2 2020, In: Structure. 28, 6, p. 674-689.e11

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

Open Access

13 Scopus citations

Cell-autonomous expression of the acid hydrolase galactocerebrosidase

Mikulka, C. R., Dearborn, J. T., Benitez, B. A., Strickland, A., Liu, L., Milbrandt, J. & Sands, M. S., Apr 21 2020, In: Proceedings of the National Academy of Sciences of the United States of America. 117, 16, p. 9032-9041 10 p.

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

Open Access

8 Scopus citations

CellTagging: combinatorial indexing to simultaneously map lineage and identity at single-cell resolution

Kong, W., Biddy, B. A., Kamimoto, K., Amrute, J. M., Butka, E. G. & Morris, S. A., Mar 1 2020, In: Nature Protocols. 15, 3, p. 750-772 23 p.

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

43 Scopus citations

Cell-type-specific 3D epigenomes in the developing human cortex

Song, M., Pebworth, M. P., Yang, X., Abnousi, A., Fan, C., Wen, J., Rosen, J. D., Choudhary, M. N. K., Cui, X., Jones, I. R., Bergenholtz, S., Eze, U. C., Juric, I., Li, B., Maliskova, L., Lee, J., Liu, W., Pollen, A. A., Li, Y. & Wang, T. & 3 others, Hu, M., Kriegstein, A. R. & Shen, Y., Nov 26 2020, In: Nature. 587, 7835, p. 644-649 6 p.

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

Open Access

92 Scopus citations

Cellular diversity of the regenerating caudal fin

Hou, Y., Lee, H. J., Chen, Y., Ge, J., Osman, F. O. I., McAdow, A. R., Mokalled, M. H., Johnson, S. L., Zhao, G. & Wang, T., Aug 2020, In: Science Advances. 6, 33, eaba2084.

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

Open Access

32 Scopus citations

Characterization of Metabolic Patterns in Mouse Oocytes during Meiotic Maturation

Li, L., Zhu, S., Shu, W., Guo, Y., Guan, Y., Zeng, J., Wang, H., Han, L., Zhang, J., Liu, X., Li, C., Hou, X., Gao, M., Ge, J., Ren, C., Zhang, H., Schedl, T., Guo, X., Chen, M. & Wang, Q., Nov 5 2020, In: Molecular cell. 80, 3, p. 525-540.e9

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

Open Access

91 Scopus citations

Chromatin accessibility mapping of the striatum identifies tyrosine kinase FYN as a therapeutic target for heroin use disorder

Egervari, G., Akpoyibo, D., Rahman, T., Fullard, J. F., Callens, J. E., Landry, J. A., Ly, A., Zhou, X., Warren, N., Hauberg, M. E., Hoffman, G., Ellis, R., Ferland, J. M. N., Miller, M. L., Keller, E., Zhang, B., Roussos, P. & Hurd, Y. L., Dec 1 2020, In: Nature communications. 11, 1, 4634.

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

Open Access

20 Scopus citations

Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes

Beighley, J. S., Hudac, C. M., Arnett, A. B., Peterson, J. L., Gerdts, J., Wallace, A. S., Mefford, H. C., Hoekzema, K., Turner, T. N., O'Roak, B. J., Eichler, E. E. & Bernier, R. A., Jan 15 2020, In: Biological Psychiatry. 87, 2, p. 123-131 9 p.

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

Open Access

23 Scopus citations

CLIP and Massively Parallel Functional Analysis of CELF6 Reveal a Role in Destabilizing Synaptic Gene mRNAs through Interaction with 3′ UTR Elements

Rieger, M. A., King, D. M., Crosby, H., Liu, Y., Cohen, B. A. & Dougherty, J. D., Dec 22 2020, In: Cell Reports. 33, 12, 108531.

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

Open Access

10 Scopus citations

CNS microRNA profiles: a database for cell type enriched microRNA expression across the mouse central nervous system

Pomper, N., Liu, Y., Hoye, M. L., Dougherty, J. D. & Miller, T. M., Dec 1 2020, In: Scientific reports. 10, 1, 4921.

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

Open Access

23 Scopus citations

Combined burden and functional impact tests for cancer driver discovery using DriverPower

PCAWG Drivers and Functional Interpretation Working Group, PCAWG Consortium, Shuai, S., Abascal, F., Amin, S. B., Bader, G. D., Bandopadhayay, P., Barenboim, J., Beroukhim, R., Bertl, J., Boroevich, K. A., Brunak, S., Campbell, P. J., Carlevaro-Fita, J., Chakravarty, D., Chan, C. W. Y., Chen, K., Choi, J. K., Deu-Pons, J. & Dhingra, P. & 182 others, Diamanti, K., Feuerbach, L., Fink, J. L., Fonseca, N. A., Frigola, J., Gambacorti-Passerini, C., Garsed, D. W., Gerstein, M., Getz, G., Guo, Q., Gut, I. G., Haan, D., Hamilton, M. P., Haradhvala, N. J., Harmanci, A. O., Helmy, M., Herrmann, C., Hess, J. M., Hobolth, A., Hodzic, E., Hong, C., Hornshøj, H., Isaev, K., Izarzugaza, J. M. G., Johnson, R., Johnson, T. A., Juul, M., Juul, R. I., Kahles, A., Kahraman, A., Kellis, M., Khurana, E., Kim, J., Kim, J. K., Kim, Y., Komorowski, J., Korbel, J. O., Kumar, S., Lanzós, A., Larsson, E., Lawrence, M. S., Lee, D., Lehmann, K. V., Li, S., Li, X., Lin, Z., Liu, E. M., Lochovsky, L., Lou, S., Madsen, T., Marchal, K., Martincorena, I., Martinez-Fundichely, A., Maruvka, Y. E., McGillivray, P. D., Meyerson, W., Muiños, F., Mularoni, L., Nakagawa, H., Nielsen, M. M., Paczkowska, M., Park, K., Park, K., Pedersen, J. S., Pons, T., Pulido-Tamayo, S., Raphael, B. J., Reimand, J., Reyes-Salazar, I., Reyna, M. A., Rheinbay, E., Rubin, M. A., Rubio-Perez, C., Sahinalp, S. C., Saksena, G., Salichos, L., Sander, C., Schumacher, S. E., Shackleton, M., Shapira, O., Shen, C., Shrestha, R., Shuai, S., Sidiropoulos, N., Sieverling, L., Sinnott-Armstrong, N., Stein, L. D., Stuart, J. M., Tamborero, D., Tiao, G., Tsunoda, T., Umer, H. M., Uusküla-Reimand, L., Valencia, A., Vazquez, M., Verbeke, L. P. C., Wadelius, C., Wadi, L., Wang, J., Warrell, J., Waszak, S. M., Weischenfeldt, J., Wheeler, D. A., Wu, G., Yu, J., Zhang, J., Zhang, X., Zhang, Y., Zhao, Z., Zou, L., von Mering, C., Gallinger, S., 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., 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., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2020, In: Nature communications. 11, 1, 734.

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

Open Access

25 Scopus citations

Comparison of differential accessibility analysis strategies for ATAC-seq data

Gontarz, P., Fu, S., Xing, X., Liu, S., Miao, B., Bazylianska, V., Sharma, A., Madden, P., Cates, K., Yoo, A., Moszczynska, A., Wang, T. & Zhang, B., Dec 1 2020, In: Scientific reports. 10, 1, 10150.

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

Open Access

32 Scopus citations

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

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., Mar 1 2020, In: Nature Genetics. 52, 3, p. 331-341 11 p.

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

Open Access

414 Scopus citations

Comprehensive molecular characterization of mitochondrial genomes in human cancers

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., Mar 1 2020, In: Nature Genetics. 52, 3, p. 342-352 11 p.

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

Open Access

251 Scopus citations

Co-opted transposons help perpetuate conserved higher-order chromosomal structures

Choudhary, M. N. K., Friedman, R. Z., Wang, J. T., Jang, H. S., Zhuo, X. & Wang, T., Jan 24 2020, In: Genome biology. 21, 1, 16.

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

Open Access

52 Scopus citations

Cytoplasmic “ciliary inclusions” in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia

Vece, T. J., Sagel, S. D., Zariwala, M. A., Sullivan, K. M., Burns, K. A., Dutcher, S. K., Yusupov, R., Leigh, M. W. & Knowles, M. R., Jan 1 2020, In: Pediatric Pulmonology. 55, 1, p. 130-135 6 p.

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

Open Access

2 Scopus citations

DeepH&M: Estimating single-CpG hydroxymethylation and methylation levels from enrichment and restriction enzyme sequencing methods

He, Y., Jang, H. S., Xing, X., Li, D., Vasek, M. J., Dougherty, J. D. & Wang, T., Jul 2020, In: Science Advances. 6, 27, eaba0521.

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

Open Access

5 Scopus citations

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Undiagnosed Diseases Network, Apr 2 2020, In: American journal of human genetics. 106, 4, p. 570-583 14 p.

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

Open Access

42 Scopus citations

Derivation of trophoblast stem cells from naïve human pluripotent stem cells

Dong, C., Beltcheva, M., Gontarz, P., Zhang, B., Popli, P., Fischer, L. A., Khan, S. A., Park, K. M., Yoon, E. J., Xing, X., Kommagani, R., Wang, T., Solnica-Krezel, L. & Theunissen, T. W., Feb 2020, In: eLife. 9, e52504.

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

Open Access

201 Scopus citations

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Lifelines Cohort Study, EPIC-CVD, EPIC-InterAct, Understanding Society Scientific group & Million Veteran Program, Dec 1 2020, In: Nature Genetics. 52, 12, p. 1314-1332 19 p.

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

Open Access

101 Scopus citations

Disrupting insulin signaling in Schwann cells impairs myelination and induces a sensory neuropathy

Hackett, A. R., Strickland, A. & Milbrandt, J., May 1 2020, In: Glia. 68, 5, p. 963-978 16 p.

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

39 Scopus citations

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

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., Mar 1 2020, In: Nature Genetics. 52, 3, p. 294-305 12 p.

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162 Scopus citations

Dissecting the genetic overlap of smoking behaviors, lung cancer, and chronic obstructive pulmonary disease: A focus on nicotinic receptors and nicotine metabolizing enzyme

Bray, M. J., Chen, L. S., Fox, L., Hancock, D. B., Culverhouse, R. C., Hartz, S. M., Johnson, E. O., Liu, M., McKay, J. D., Saccone, N. L., Hokanson, J. E., Vrieze, S. I., Tyndale, R. F., Baker, T. B. & Bierut, L. J., Oct 1 2020, In: Genetic Epidemiology. 44, 7, p. 748-758 11 p.

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10 Scopus citations

Divergent mutational processes distinguish hypoxic and normoxic tumours

PCAWG Consortium, Dec 1 2020, In: Nature communications. 11, 1, 737.

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Open Access

90 Scopus citations

DLK Activation Synergizes with Mitochondrial Dysfunction to Downregulate Axon Survival Factors and Promote SARM1-Dependent Axon Degeneration

Summers, D. W., Frey, E., Walker, L. J., Milbrandt, J. & DiAntonio, A., Feb 1 2020, In: Molecular Neurobiology. 57, 2, p. 1146-1158 13 p.

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48 Scopus citations

DNMT3A Haploinsufficiency Results in Behavioral Deficits and Global Epigenomic Dysregulation Shared across Neurodevelopmental Disorders

Christian, D. L., Wu, D. Y., Martin, J. R., Moore, J. R., Liu, Y. R., Clemens, A. W., Nettles, S. A., Kirkland, N. M., Papouin, T., Hill, C. A., Wozniak, D. F., Dougherty, J. D. & Gabel, H. W., Nov 24 2020, In: Cell Reports. 33, 8, 108416.

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32 Scopus citations

Domain-centric database to uncover structure of minimally characterized viral genomes

Bramley, J. C., Yenkin, A. L., Zaydman, M. A., DiAntonio, A., Milbrandt, J. D. & Buchser, W. J., Dec 1 2020, In: Scientific data. 7, 1, 202.

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2 Scopus citations

Dual threshold optimization and network inference reveal convergent evidence from TF binding locations and TF perturbation responses

Kang, Y., Patel, N. R., Shively, C., Recio, P. S., Chen, X., Wranik, B. J., Kim, G., Scott McIsaac, R., Mitra, R. & Brent, M. R., 2020, In: Genome research. 30, 3, p. 459-471 13 p.

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16 Scopus citations

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & TOPMed Lipids Working Group, Sep 1 2020, In: Nature Genetics. 52, 9, p. 969-983 15 p.

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126 Scopus citations

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Undiagnosed Diseases Network, Dec 2020, In: Molecular Genetics and Genomic Medicine. 8, 12, e1544.

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10 Scopus citations

Epidemiology of Perceived Physical Fatigability in Older Adults: The Long Life Family Study

Lasorda, K. R., Gmelin, T., Kuipers, A. L., Boudreau, R. M., Santanasto, A. J., Christensen, K., Renner, S. W., Wojczynski, M. K., Andersen, S. L., Cosentino, S., Glynn, N. W. & Melzer, D., Jun 5 2020, In: Journals of Gerontology - Series A Biological Sciences and Medical Sciences. 75, 9, p. e81-e88

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38 Scopus citations

Epigenomic programming in early fetal brain development

Li, L., Maire, C. L., Bilenky, M., Carles, A., Heravi-Moussavi, A., Hong, C., Tam, A., Kamoh, B., Cho, S., Cheung, D., Li, I., Wong, T., Nagarajan, R. P., Mungall, A. J., Moore, R., Wang, T., Kleinman, C. L., Jabado, N., Jones, S. J. M. & Marra, M. A. & 3 others, Ligon, K. L., Costello, J. F. & Hirst, M., Jun 2020, In: Epigenomics. 12, 12, p. 1053-1070 18 p.

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9 Scopus citations

Epigenomics and genotype-phenotype association analyses reveal conserved genetic architecture of complex traits in cattle and human

Liu, S., Yu, Y., Zhang, S., Cole, J. B., Tenesa, A., Wang, T., McDaneld, T. G., Ma, L., Liu, G. E. & Fang, L., Jul 3 2020, In: BMC Biology. 18, 1, 80.

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32 Scopus citations

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Jin, S. C., Dong, W., Kundishora, A. J., Panchagnula, S., Moreno-De-Luca, A., Furey, C. G., Allocco, A. A., Walker, R. L., Nelson-Williams, C., Smith, H., Dunbar, A., Conine, S., Lu, Q., Zeng, X., Sierant, M. C., Knight, J. R., Sullivan, W., Duy, P. Q., DeSpenza, T. & Reeves, B. C. & 41 others, Karimy, J. K., Marlier, A., Castaldi, C., Tikhonova, I. R., Li, B., Peña, H. P., Broach, J. R., Kabachelor, E. M., Ssenyonga, P., Hehnly, C., Ge, L., Keren, B., Timberlake, A. T., Goto, J., Mangano, F. T., Johnston, J. M., Butler, W. E., Warf, B. C., Smith, E. R., Schiff, S. J., Limbrick, D. D., Heuer, G., Jackson, E. M., Iskandar, B. J., Mane, S., Haider, S., Guclu, B., Bayri, Y., Sahin, Y., Duncan, C. C., Apuzzo, M. L. J., DiLuna, M. L., Hoffman, E. J., Sestan, N., Ment, L. R., Alper, S. L., Bilguvar, K., Geschwind, D. H., Günel, M., Lifton, R. P. & Kahle, K. T., Nov 2020, In: Nature medicine. 26, 11, p. 1754-1765 12 p.

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97 Scopus citations

Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

Dong, W., Jin, S. C., Allocco, A., Zeng, X., Sheth, A. H., Panchagnula, S., Castonguay, A., Lorenzo, L. É., Islam, B., Brindle, G., Bachand, K., Hu, J., Sularz, A., Gaillard, J., Choi, J., Dunbar, A., Nelson-Williams, C., Kiziltug, E., Furey, C. G. & Conine, S. & 29 others, Duy, P. Q., Kundishora, A. J., Loring, E., Li, B., Lu, Q., Zhou, G., Liu, W., Li, X., Sierant, M. C., Mane, S., Castaldi, C., López-Giráldez, F., Knight, J. R., Sekula, R. F., Simard, J. M., Eskandar, E. N., Gottschalk, C., Moliterno, J., Günel, M., Gerrard, J. L., Dib-Hajj, S., Waxman, S. G., Barker, F. G., Alper, S. L., Chahine, M., Haider, S., De Koninck, Y., Lifton, R. P. & Kahle, K. T., Oct 23 2020, In: iScience. 23, 10, 101552.

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31 Scopus citations

Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits

Quach, B. C., Bray, M. J., Gaddis, N. C., Liu, M., Palviainen, T., Minica, C. C., Zellers, S., Sherva, R., Aliev, F., Nothnagel, M., Young, K. A., Marks, J. A., Young, H., Carnes, M. U., Guo, Y., Waldrop, A., Sey, N. Y. A., Landi, M. T., McNeil, D. W. & Drichel, D. & 26 others, Farrer, L. A., Markunas, C. A., Vink, J. M., Hottenga, J. J., Iacono, W. G., Kranzler, H. R., Saccone, N. L., Neale, M. C., Madden, P., Rietschel, M., Marazita, M. L., McGue, M., Won, H., Winterer, G., Grucza, R., Dick, D. M., Gelernter, J., Caporaso, N. E., Baker, T. B., Boomsma, D. I., Kaprio, J., Hokanson, J. E., Vrieze, S., Bierut, L. J., Johnson, E. O. & Hancock, D. B., Dec 1 2020, In: Nature communications. 11, 1, 5562.

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73 Scopus citations

Functions of Gtf2i and Gtf2ird1 in the developing brain: Transcription, DNA binding and long-term behavioral consequences

Kopp, N. D., Nygaard, K. R., Liu, Y., McCullough, K. B., Maloney, S. E., Gabel, H. W. & Dougherty, J. D., Jun 3 2020, In: Human molecular genetics. 29, 9, p. 1498-1519 22 p.

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13 Scopus citations

GABA-A receptor and mitochondrial TSPO signaling act in parallel to regulate melanocyte stem cell quiescence in larval zebrafish

Allen, J. R., Skeath, J. B. & Johnson, S. L., May 1 2020, In: Pigment Cell and Melanoma Research. 33, 3, p. 416-425 10 p.

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4 Scopus citations

Gene discovery for high-density lipoprotein cholesterol level change over time in prospective family studies

Feitosa, M. F., Lunetta, K. L., Wang, L., Wojczynski, M. K., Kammerer, C. M., Perls, T., Schupf, N., Christensen, K., Murabito, J. M. & Province, M. A., Mar 2020, In: Atherosclerosis. 297, p. 102-110 9 p.

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6 Scopus citations

Genetic background and diet affect brown adipose gene coexpression networks associated with metabolic phenotypes

Carson, C. & Lawson, H. A., Jun 2020, In: Physiological genomics. 52, 6, p. 223-233 11 p.

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4 Scopus citations

Genetics and geography of leukocyte telomere length in sub-Saharan Africans

Hunt, S. C., Hansen, M. E. B., Verhulst, S., McQuillan, M. A., Beggs, W., Lai, T. P., Mokone, G. G., Mpoloka, S. W., Meskel, D. W., Belay, G., Nyambo, T. B., Abnet, C. C., Yeager, M., Chanock, S. J., Province, M. A., Williams, S. M., Aviv, A. & Tishkoff, S. A., Sep 15 2020, In: Human molecular genetics. 29, 18, p. 3014-3020 7 p.

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6 Scopus citations

Genetic studies of leptin concentrations implicate leptin in the regulation of early adiposity

Yaghootkar, H., Zhang, Y., Spracklen, C. N., Karaderi, T., Huang, L. O., Bradfield, J., Schurmann, C., Fine, R. S., Preuss, M. H., Kutalik, Z., Wittemans, L. B. L., Lu, Y., Metz, S., Willems, S. M., Li-Gao, R., Grarup, N., Wang, S., Molnos, S., Sandoval-Zárate, A. A. & Nalls, M. A. & 96 others, Lange, L. A., Haesser, J., Guo, X., Lyytikäinen, L. P., Feitosa, M. F., Sitlani, C. M., Venturini, C., Mahajan, A., Kacprowski, T., Wang, C. A., Chasman, D. I., Amin, N., Broer, L., Robertson, N., Young, K. L., Allison, M., Auer, P. L., Blüher, M., Borja, J. B., Bork-Jensen, J., Carrasquilla, G. D., Christofidou, P., Demirkan, A., Doege, C. A., Garcia, M. E., Graff, M., Guo, K., Hakonarson, H., Hong, J., Chen, Y. D. I., Jackson, R., Jakupovic, H., Jousilahti, P., Justice, A. E., Kähönen, M., Kizer, J. R., Kriebel, J., Leduc, C. A., Li, J., Lind, L., Luan, J., Mackey, D. A., Mangino, M., Männistö, S., Carli, J. F. M., Medina-Gomez, C., Mook-Kanamori, D. O., Morris, A. P., de Mutsert, R., Nauck, M., Prokic, I., Pennell, C. E., Pradhan, A. D., Psaty, B. M., Raitakari, O. T., Scott, R. A., Skaaby, T., Strauch, K., Taylor, K. D., Teumer, A., Uitterlinden, A. G., Wu, Y., Yao, J., Walker, M., North, K. E., Kovacs, P., Ikram, M. A., van Duijn, C. M., Ridker, P. M., Lye, S., Homuth, G., Ingelsson, E., Spector, T. D., McKnight, B., Province, M. A., Lehtimäki, T., Adair, L. S., Rotter, J. I., Reiner, A. P., Wilson, J. G., Harris, T. B., Ripatti, S., Grallert, H., Meigs, J. B., Salomaa, V., Hansen, T., van Dijk, K. W., Wareham, N. J., Grant, S. F. A., Langenberg, C., Frayling, T. M., Lindgren, C. M., Mohlke, K. L., Leibel, R. L., Loos, R. J. F. & Kilpeläinen, T. O., Dec 2020, In: Diabetes. 69, 12, p. 2806-2818 13 p.

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26 Scopus citations

Genetic Variant in CHRNA5 and Response to Varenicline and Combination Nicotine Replacement in a Randomized Placebo-Controlled Trial

Chen, L. S., Baker, T. B., Miller, J. P., Bray, M., Smock, N., Chen, J., Stoneking, F., Culverhouse, R. C., Saccone, N. L., Amos, C. I., Carney, R. M., Jorenby, D. E. & Bierut, L. J., Dec 2020, In: Clinical pharmacology and therapeutics. 108, 6, p. 1315-1325 11 p.

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16 Scopus citations

Genomic basis for RNA alterations in cancer

PCAWG Transcriptome Core Group, PCAWG Transcriptome Working Group, PCAWG Consortium, Calabrese, C., Davidson, N. R., Demircioğlu, D., Fonseca, N. A., He, Y., Kahles, A., Lehmann, K. V., Liu, F., Shiraishi, Y., Soulette, C. M., Urban, L., Greger, L., Li, S., Liu, D., Perry, M. D., Xiang, Q. & Zhang, F. & 183 others, Zhang, J., Bailey, P., Erkek, S., Hoadley, K. A., Hou, Y., Huska, M. R., Kilpinen, H., Korbel, J. O., Marin, M. G., Markowski, J., Nandi, T., Pan-Hammarström, Q., Pedamallu, C. S., Siebert, R., Stark, S. G., Su, H., Tan, P., Waszak, S. M., Yung, C., Zhu, S., Awadalla, P., Creighton, C. J., Meyerson, M., Ouellette, B. F. F., Wu, K., Yang, H., Brazma, A., Brooks, A. N., Göke, J., Rätsch, G., Schwarz, R. F., Stegle, O., Zhang, Z., Amin, S. B., Chateigner, A., Cortés-Ciriano, I., Craft, B., Frenkel-Morgenstern, M., Goldman, M., Khurana, E., Lamaze, F. C., Li, C., Li, X., Li, X., Liu, X., Nielsen, M. M., Ojesina, A. I., Park, P. J., Pedersen, J. S., Teh, B. T., Wang, J., Xiong, H., Yakneen, S., Ye, C., Zhang, X., Zheng, L., Zhu, 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., 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., 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., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Feb 6 2020, In: Nature. 578, 7793, p. 129-136 8 p.

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276 Scopus citations

Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome

Makki, N., Zhao, J., Liu, Z., Eckalbar, W. L., Ushiki, A., Khanshour, A. M., Wu, J., Rios, J., Gray, R. S., Wise, C. A. & Ahituv, N., Nov 15 2020, In: Human molecular genetics. 29, 22, p. 3606-3615 10 p.

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10 Scopus citations

Genomic footprints of activated telomere maintenance mechanisms in cancer

PCAWG-Structural Variation Working Group, PCAWG Consortium, Sieverling, L., Hong, C., Koser, S. D., Ginsbach, P., Kleinheinz, K., Hutter, B., Braun, D. M., Cortés-Ciriano, I., Xi, R., Kabbe, R., Park, P. J., Eils, R., Schlesner, M., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Beroukhim, R. & Boutros, P. C. & 182 others, Bowtell, D. D. L., Brors, B., Burns, K. H., 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., 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., 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., Brors, B., Rippe, K., Jones, D. T. W., Feuerbach, L., 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., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Muyas, F. & Werner, J., Dec 1 2020, In: Nature communications. 11, 1, 733.

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

Open Access

77 Scopus citations

GLP-1 Notch-LAG-1 CSL control of the germline stem cell fate is mediated by transcriptional targets lst-1 and sygl-1

Chen, J., Mohammad, A., Pazdernik, N., Huang, H., Bowman, B., Tycksen, E. & Schedl, T., Mar 1 2020, In: PLoS genetics. 16, 3, e1008650.

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

Open Access

26 Scopus citations

High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations

PCAWG Transcriptome Working Group, PCAWG-Structural Variation Working Group, PCAWG Consortium, Zhang, Y., Chen, F., Fonseca, N. A., He, Y., Fujita, M., Nakagawa, H., Zhang, Z., Brazma, A., Amin, S. B., Awadalla, P., Bailey, P. J., Brazma, A., Brooks, A. N., Calabrese, C., Chateigner, A., Cortés-Ciriano, I. & Craft, B. & 183 others, Craft, D., Creighton, C. J., Davidson, N. R., Demircioğlu, D., Erkek, S., Fonseca, N. A., Frenkel-Morgenstern, M., Goldman, M. J., Greger, L., Göke, J., He, Y., Hoadley, K. A., Hou, Y., Huska, M. R., Kahles, A., Khurana, E., Kilpinen, H., Korbel, J. O., Lamaze, F. C., Lehmann, K. V., Li, C., Li, S., Li, X., Li, X., Liu, D., Liu, F., Liu, X., Marin, M. G., Markowski, J., Meyerson, M., Nandi, T., Nielsen, M. M., Ojesina, A. I., Ouellette, B. F. F., Pan-Hammarström, Q., Park, P. J., Pedamallu, C. S., Pedersen, J. S., Perry, M. D., Rätsch, G., Schwarz, R. F., Shiraishi, Y., Siebert, R., Soulette, C. M., Stark, S. G., Stegle, O., Su, H., Tan, P., Teh, B. T., Urban, L., Wang, J., Waszak, S. M., Wu, K., Xiang, Q., Xiong, H., Yakneen, S., Yang, H., Ye, C., Yung, C. K., Zhang, F., Zhang, J., Zhang, X., Zhang, Z., Zheng, L., Zhu, J., Zhu, S., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Beroukhim, R., Boutros, P. C., Bowtell, D. D. L., Brors, B., Burns, K. H., 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., 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., 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., Zhang, C. Z., Creighton, C. 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., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Muyas, F. & Werner, J., Dec 1 2020, In: Nature communications. 11, 1, 736.

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

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52 Scopus citations

Department of Genetics

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