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 en F1000Res (2015)

EAPH-06. HYPERMUTANT PEDIATRIC HIGH GRADE GLIOMAS ARE DRIVEN BY RAS/MAPK MUTATIONS AND RESPOND TO MEK INHIBITION

por Campbell, Brittany B, Morgenstern, Daniel A, Lipman, Tatiana, Fabrizio, David, Shlien, Adam, Bouffet, Eric, Hawkins, Cynthia, Tabori, Uri
Publicado en Neuro Oncol (2018)

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

Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome

por Shlien, Adam, Tabori, Uri, Marshall, Christian R., Pienkowska, Malgorzata, Feuk, Lars, Novokmet, Ana, Nanda, Sonia, Druker, Harriet, Scherer, Stephen W., Malkin, David
Publicado 2008

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 en Genome Biol (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 en Nucleic Acids Res (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 en Nucleic Acids Res (2018)

Toward a more Uniform Sampling of Human Genetic Diversity: A Survey of Worldwide Populations by High-density Genotyping

por Xing, Jinchuan, Watkins, W. Scott, Shlien, Adam, Walker, Erin, Huff, Chad D., Witherspoon, David J., Zhang, Yuhua, Simonson, Tatum S., Weiss, Robert B., Schiffman, Joshua D., Malkin, David, Woodward, Scott R., Jorde, Lynn B.
Publicado 2010

Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure

por Heidemann, Stephanie, Bursic, Brian, Zandi, Sasan, Li, Hongbing, Abelson, Sagi, Klaassen, Robert J., Abish, Sharon, Rayar, Meera, Breakey, Vicky R., Moshiri, Houtan, Dhanraj, Santhosh, de Borja, Richard, Shlien, Adam, Dick, John E., Dror, Yigal
Publicado en JCI Insight (2020)

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 en eLife (2018)

PDTM-21. LARGE SCALE TUMOR MUTATIONAL BURDEN ANALYSIS OF PEDIATRIC TUMORS PROVIDES A DIAGNOSTIC TOOL FOR GERMLINE PREDISPOSITION AND REVEALS NOVEL CANDIDATES FOR IMMUNE CHECKPOINT...

por Campbell, Brittany B, Angelini, Paola, Light, Nicholas, Bouffet, Eric, Larouche, Valerie, Samuel, David, Stearns, Duncan, Cole, Kristina A, Opocher, Enrico, Sabel, Magnus, George, Ben, Ziegler, David, Laperriere, Normand, Meyn, Stephen, Malkin, David, Shlien, Adam, Tabori, Uri
Publicado en Neuro Oncol (2017)

A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes

por Shlien, Adam, Baskin, Berivan, Achatz, Maria Isabel W., Stavropoulos, Dimitrios J., Nichols, Kim E., Hudgins, Louanne, Morel, Chantal F., Adam, Margaret P., Zhukova, Nataliya, Rotin, Lianne, Novokmet, Ana, Druker, Harriet, Shago, Mary, Ray, Peter N., Hainaut, Pierre, Malkin, David
Publicado 2010

TMOD-10. REPLICATION REPAIR DEFICIENT MOUSE MODELS PROVIDE INSIGHT ON HYPERMUTANT BRAIN TUMOURS AND COMBINATIONAL IMMUNOTHERAPY

por Galati, Melissa, Bridge, Taylor, Sudhaman, Sumedha, Elshaer, Dana, Ercan, Ayse, Joksimovic, Lazar, Gams, Miki, Hodel, Karl, Lipman, Tatiana, Siddiqui, Iram, de Borja, Richard, Forster, Victoria, Martin, Alberto, Bouffet, Eric, Shlien, Adam, Guidos, Cynthia, Pursell, Zachary, Hawkins, Cynthia, Tabori, Uri
Publicado en Neuro Oncol (2019)

New variants at 10q26 and 15q21 are associated with aggressive prostate cancer in a genome-wide association study from a prostate biopsy screening cohort

por Nam, Robert K., Zhang, William, Siminovitch, Katherine, Shlien, Adam, Kattan, Michael W., Klotz, Laurence H., Trachtenberg, John, Lu, Yan, Zhang, Jinyi, Yu, Changhong, Toi, Ants, Loblaw, D. Andrew, Venkateswaran, Vasundara, Stanimirovic, Aleksandra, Sugar, Linda, Malkin, David, Seth, Arun, Narod, Steven A.
Publicado 2011

LG-01 BRAF MUTATION AND CDKN2A DELETION DEFINE A CLINICALLY DISTINCT SUBGROUP OF CHILDHOOD SECONDARY HIGH-GRADE GLIOMA

por Mistry, Matthew, Zhukova, Nataliya, Merico, Daniele, Rakopoulos, Patricia, Krishnatry, Rahul, Shago, Mary, Stavropoulos, Jim, Pole, Jason, Ray, Peter, Remke, Marc, Buczkowicz, Pawel, Ramaswamy, Vijay, Shlien, Adam, Rutka, James, Dirks, Peter, Taylor, Michael, Malkin, David, Bouffet, Eric, Hawkins, Cynthia, Tabori, Uri
Publicado en Neuro Oncol (2015)

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 en Cell Rep (2015)

IMMU-13. LARGE SCALE TUMOR MUTATIONAL BURDEN ANALYSIS OF PEDIATRIC TUMORS PROVIDES A DIAGNOSTIC TOOL FOR GERMLINE PREDISPOSITION AND REVEALS NOVEL CANDIDATES FOR IMMUNE CHECKPOINT...

por Campbell, Brittany B., Angelini, Paola, Fabrizio, David, Elvin, Julia, Light, Nicholas, Bouffet, Eric, Larouche, Valerie, Samuel, David, Stearns, Duncan, Cole, Kristina, Opocher, Enrico, Thomas, Gregory, Sabel, Magnus, George, Ben, Ziegler, David, Lapierre, Norman, Mason, Gary, Magimajrajan, Vanan, Shlien, Adam, Tabori, Uri
Publicado en Neuro Oncol (2017)

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

HGG-17. TUMOR MUTATIONAL BURDEN ANALYSIS OF PEDIATRIC TUMORS PROVIDES A DIAGNOSTIC TOOL FOR GERMLINE REPLICATION REPAIR DEFICIENCY AND PREDICT RESPONSE TO IMMUNE CHECKPOINT INHIBIT...

por Campbell, Brittany B, Light, Nicholas, Fabrizio, David, Bouffet, Eric, Larouche, Valerie, Samuel, David, Stearns, Duncan, Cole, Kristina A, Opocher, Enrico, Thomas, Gregory, Sabel, Magnus, Dirks, Peter, Taylor, Michael, Malkin, David, Albrecht, Steffen, Dudley, Roy, Jabado, Nada, Hawkins, Cynthia, Shlien, Adam, Tabori, Uri
Publicado en Neuro Oncol (2018)