Copy number variations and cancer

por Shlien, Adam, Malkin, David
Publicado 2009

Long read nanopore sequencing for detection of HLA and CYP2D6 variants and haplotypes

por Ammar, Ron, Paton, Tara A., Torti, Dax, Shlien, Adam, Bader, Gary D.
Publicado 2015

Single-cell diploid Hi-C reveals the role of spatial aggregations in complex rearrangements and KMT2A fusions in leukemia

por Xing, Zhihao, Mai, Huirong, Liu, Xiaorong, Fu, Xiaoying, Zhang, Xingliang, Xie, Lichun, Chen, Yunsheng, Shlien, Adam, Wen, Feiqiu
Publicado 2022

A proteomic chronology of gene expression through the cell cycle in human myeloid leukemia cells

por Ly, Tony, Ahmad, Yasmeen, Shlien, Adam, Soroka, Dominique, Mills, Allie, Emanuele, Michael J, Stratton, Michael R, Lamond, Angus I
Publicado 2014

Comprehensive profiling of mRNA splicing indicates that GC content signals altered cassette exon inclusion in Ewing sarcoma

por Graham, Garrett T, Selvanathan, Saravana P, Zöllner, Stefan K, Stahl, Emily, Shlien, Adam, Caplen, Natasha J, Üren, Aykut, Toretsky, Jeffrey A
Publicado 2022

OncoCis: annotation of cis-regulatory mutations in cancer

por Perera, Dilmi, Chacon, Diego, Thoms, Julie AI, Poulos, Rebecca C, Shlien, Adam, Beck, Dominik, Campbell, Peter J, Pimanda, John E, Wong, Jason WH
Publicado 2014

Optimized knock-in of point mutations in zebrafish using CRISPR/Cas9

por Prykhozhij, Sergey V, Fuller, Charlotte, Steele, Shelby L, Veinotte, Chansey J, Razaghi, Babak, Robitaille, Johane M, McMaster, Christopher R, Shlien, Adam, Malkin, David, Berman, Jason N
Publicado 2018

Optimized knock-in of point mutations in zebrafish using CRISPR/Cas9

por Prykhozhij, Sergey V, Fuller, Charlotte, Steele, Shelby L, Veinotte, Chansey J, Razaghi, Babak, Robitaille, Johane M, McMaster, Christopher R, Shlien, Adam, Malkin, David, Berman, Jason N
Publicado 2018

TMBur: a distributable tumor mutation burden approach for whole genome sequencing

por Titmuss, Emma, Corbett, Richard D., Davidson, Scott, Abbasi, Sanna, Williamson, Laura M., Pleasance, Erin D., Shlien, Adam, Renouf, Daniel J., Jones, Steven J. M., Laskin, Janessa, Marra, Marco A.
Publicado 2022

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma

por Randall, Michael P., Egolf, Laura E., Vaksman, Zalman, Samanta, Minu, Tsang, Matthew, Groff, David, Evans, J. Perry, Rokita, Jo Lynne, Layeghifard, Mehdi, Shlien, Adam, Maris, John M., Diskin, Sharon J., Bosse, Kristopher R.
Publicado 2023

Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair

por Hodel, Karl P, de Borja, Richard, Henninger, Erin E, Campbell, Brittany B, Ungerleider, Nathan, Light, Nicholas, Wu, Tong, LeCompte, Kimberly G, Goksenin, A Yasemin, Bunnell, Bruce A, Tabori, Uri, Shlien, Adam, Pursell, Zachary F
Publicado 2018

Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia

por Renzi, Samuele, Algawahmed, Fatimah, Davidson, Scott, Langenberg, Karin P. S., Fuligni, Fabio, Ali, Salah, Anderson, Nathaniel, Brunga, Ledia, Bartram, Jack, Abdelhaleem, Mohamed, Naqvi, Ahmed, Beimnet, Kassa, Schuh, Andre, Tierens, Anne, Malkin, David, Shlien, Adam, Shago, Mary, Villani, Anita
Publicado 2023

Widespread hypertranscription in aggressive human cancers

por Zatzman, Matthew, Fuligni, Fabio, Ripsman, Ryan, Suwal, Tannu, Comitani, Federico, Edward, Lisa-Monique, Denroche, Rob, Jang, Gun Ho, Notta, Faiyaz, Gallinger, Steven, Selvanathan, Saravana P., Toretsky, Jeffrey A., Hellmann, Matthew D., Tabori, Uri, Huang, Annie, Shlien, Adam
Publicado 2022

Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome

por Fumagalli, Debora, Gacquer, David, Rothé, Françoise, Lefort, Anne, Libert, Frederick, Brown, David, Kheddoumi, Naima, Shlien, Adam, Konopka, Tomasz, Salgado, Roberto, Larsimont, Denis, Polyak, Kornelia, Willard-Gallo, Karen, Desmedt, Christine, Piccart, Martine, Abramowicz, Marc, Campbell, Peter J., Sotiriou, Christos, Detours, Vincent
Publicado 2015

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

por Nik-Zainal, Serena, Wedge, David C., Alexandrov, Ludmil B., Petljak, Mia, Butler, Adam P., Bolli, Niccolo, Davies, Helen R., Knappskog, Stian, Martin, Sancha, Papaemmanuil, Elli, Ramakrishna, Manasa, Shlien, Adam, Simonic, Ingrid, Xue, Yali, Tyler-Smith, Chris, Campbell, Peter J., Stratton, Michael R.
Publicado 2014

DNA methylation signature is prognostic of choroid plexus tumor aggressiveness

por Pienkowska, Malgorzata, Choufani, Sanaa, Turinsky, Andrei L., Guha, Tanya, Merino, Diana M., Novokmet, Ana, Brudno, Michael, Weksberg, Rosanna, Shlien, Adam, Hawkins, Cynthia, Bouffet, Eric, Tabori, Uri, Gilbertson, Richard, Finlay, Jonathan L., Jabado, Nada, Thomas, Christian, Sill, Martin, Capper, David, Hasselblatt, Martin, Malkin, David
Publicado 2019

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

por Uddin, Mohammed, Woodbury-Smith, Marc, Chan, Ada, Brunga, Ledia, Lamoureux, Sylvia, Pellecchia, Giovanna, Yuen, Ryan K.C., Faheem, Muhammad, Stavropoulos, Dimitri J., Drake, James, Hahn, Cecil D., Hawkins, Cynthia, Shlien, Adam, Marshall, Christian R., Turner, Lesley A., Minassian, Berge A., Scherer, Stephen W., Boelman, Cyrus
Publicado 2017

Correction to: DNA methylation signature is prognostic of choroid plexus tumor aggressiveness

por Pienkowska, Malgorzata, Choufani, Sanaa, Turinsky, Andrei L., Guha, Tanya, Merino, Diana M., Novokmet, Ana, Brudno, Michael, Weksberg, Rosanna, Shlien, Adam, Hawkins, Cynthia, Bouffet, Eric, Tabori, Uri, Gilbertson, Richard J., Finlay, Jonathan L., Jabado, Nada, Thomas, Christian, Sill, Martin, Capper, David, Hasselblatt, Martin, Malkin, David
Publicado 2019

Trio RNA sequencing in a cohort of medically complex children

por Deshwar, Ashish R., Yuki, Kyoko E., Hou, Huayun, Liang, Yijing, Khan, Tayyaba, Celik, Alper, Ramani, Arun, Mendoza-Londono, Roberto, Marshall, Christian R., Brudno, Michael, Shlien, Adam, Meyn, M. Stephen, Hayeems, Robin Z., McKinlay, Brandon J., Klentrou, Panagiota, Wilson, Michael D., Kyriakopoulou, Lianna, Costain, Gregory, Dowling, James J.
Publicado 2023

The BRD4–NUT Fusion Alone Drives Malignant Transformation of NUT Carcinoma

por Durall, R. Taylor, Huang, Julianna, Wojenski, Luke, Huang, Yeying, Gokhale, Prafulla C., Leeper, Brittaney A., Nash, Joshua O., Ballester, Pedro L., Davidson, Scott, Shlien, Adam, Sotirakis, Emmanuel, Bertaux, Fabien, Dubus, Vincent, Luo, Jia, Wu, Catherine J., Keskin, Derin B., Eagen, Kyle P., Shapiro, Geoffrey I., French, Christopher A.
Publicado 2023