Search Results - "Venier, Rosemarie E"

Lineage-defined leiomyosarcoma subtypes emerge years before diagnosis and determine patient survival by Anderson, Nathaniel D., Babichev, Yael, Fuligni, Fabio, Comitani, Federico, Layeghifard, Mehdi, Venier, Rosemarie E., Dentro, Stefan C., Maheshwari, Anant, Guram, Sheena, Wunker, Claire, Thompson, J. Drew, Yuki, Kyoko E., Hou, Huayun, Zatzman, Matthew, Light, Nicholas, Bernardini, Marcus Q., Wunder, Jay S., Andrulis, Irene L., Ferguson, Peter, Razak, Albiruni R. Abdul, Swallow, Carol J., Dowling, James J., Al-Awar, Rima S., Marcellus, Richard, Rouzbahman, Marjan, Gerstung, Moritz, Durocher, Daniel, Alexandrov, Ludmil B., Dickson, Brendan C., Gladdy, Rebecca A., Shlien, Adam

“…Leiomyosarcomas (LMS) are genetically heterogeneous tumors differentiating along smooth muscle lines. Currently, LMS treatment is not informed by molecular…”
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Miglustat as a therapeutic agent: prospects and caveats by Venier, Rosemarie E, Igdoura, Suleiman A

“…A viable treatment for lysosomal storage disease has been very difficult to attain. One option is pharmacological inhibition of synthetic pathways to reduce…”
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Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance by Nakano, Yoshiko, Acker, Meryl, Druker, Harriet, van Engelen, Kalene, Meyn, M Stephen, Wasserman, Jonathan D, Venier, Rosemarie E, Goudie, Catherine, Stosic, Ana, Huang, Annie, Greer, Mary-Louise C, Malkin, David, Villani, Anita, Gallinger, Bailey

“…Rhabdoid tumor predisposition syndrome type-1 (RTPS1) is characterized by germline pathogenic variants in SMARCB1 and development of INI1-deficient rhabdoid…”
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Evaluation of barriers to referral for cancer predisposition syndromes in pediatric oncology patients in the United States by Venier, Rosemarie E., Grubs, Robin E., Kessler, Elena, Cooper, Kristine L., Bailey, Kelly M., Meade, Julia

“…Cancer predisposition syndromes (CPS) are underdiagnosed in the pediatric population, though the diagnosis of a CPS has important implications for the child…”
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The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations by Villani, Anita, Davidson, Scott, Kanwar, Nisha, Lo, Winnie W, Li, Yisu, Cohen-Gogo, Sarah, Fuligni, Fabio, Edward, Lisa-Monique, Light, Nicholas, Layeghifard, Mehdi, Harripaul, Ricardo, Waldman, Larissa, Gallinger, Bailey, Comitani, Federico, Brunga, Ledia, Hayes, Reid, Anderson, Nathaniel D, Ramani, Arun K, Yuki, Kyoko E, Blay, Sasha, Johnstone, Brittney, Inglese, Cara, Hammad, Rawan, Goudie, Catherine, Shuen, Andrew, Wasserman, Jonathan D, Venier, Rosemarie E, Eliou, Marianne, Lorenti, Miranda, Ryan, Carol Ann, Braga, Michael, Gloven-Brown, Meagan, Han, Jianan, Montero, Maria, Spatare, Famida, Whitlock, James A, Scherer, Stephen W, Chun, Kathy, Somerville, Martin J, Hawkins, Cynthia, Abdelhaleem, Mohamed, Ramaswamy, Vijay, Somers, Gino R, Kyriakopoulou, Lianna, Hitzler, Johann, Shago, Mary, Morgenstern, Daniel A, Tabori, Uri, Meyn, Stephen, Irwin, Meredith S, Malkin, David, Shlien, Adam

“…We conducted integrative somatic-germline analyses by deeply sequencing 864 cancer-associated genes, complete genomes and transcriptomes for 300 mostly…”
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A germline BARD1 mutation in a patient with Ewing Sarcoma: Implications for familial testing and counseling by Venier, Rosemarie E., Maurer, Lisa M., Kessler, Elena M., Ranganathan, Sarangarajan, McGough, Richard L., Weiss, Kurt R., Malek, Marcus M., Meade, Julia, Tersak, Jean M., Bailey, Kelly M.

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Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice by Hooper, Alexander W M, Alamilla, Javier F, Venier, Rosemarie E, Gillespie, Deda C, Igdoura, Suleiman A

“…GM2 gangliosidoses are a group of lysosomal storage disorders which include Sandhoff disease and Tay-Sachs disease. Dysregulation of glutamate receptors has…”
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BRCA1-associated RING domain-1 (BARD1) loss and GBP1 expression enhance sensitivity to DNA damage in Ewing sarcoma by Maurer, Lisa M, Daley, Jessica D, Mukherjee, Elina, Venier, Rosemarie E, Julian, Claire M, Bailey, Nathanael G, Jacobs, Michelle F, Kumar-Sinha, Chandan, Raphael, Haley, Periyapatna, Nivitha, Weiss, Kurt, Janeway, Katherine A, Mody, Rajen, Lucas, Peter C, McAllister-Lucas, Linda M, Bailey, Kelly M

“…Ewing sarcoma is a fusion oncoprotein-driven primary bone tumor. A subset of patients (~10%) with Ewing sarcoma are known to harbor germline variants in a…”
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Abstract A035 Characterization of circulating tumor DNA in a pediatric oncology cohort and implementation into the SickKids Cancer Sequencing (KiCS) precision oncology program by Cohen-Gogo, Sarah, Choi, Taegi, Ripsman, Ryan, Hudson, Matt, Fong, Sandy, Khan, Reem, Venier, Rosemarie E., Charlinski, Tristan, Villani, Anita, Malkin, David, Shlien, Adam

“…Abstract Introduction Sensitive methods to monitor disease and identify novel therapeutic targets are key to improving survival for children with hard-to-cure…”
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Evaluation of Barriers to Referral for Cancer Predisposition Syndromes in Pediatric Oncology Patients by Venier, Rosemarie E

“…Genomic medicine and the use of genetic information in pediatric oncology has provided insight on the molecular underpinnings of childhood cancers and has…”
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Abstract B014: Metabolic reprogramming in high-grade sarcomas: repurposing anti-cholesterol agents as a novel therapeutic strategy by Dorsey, Jen, Babichev, Yael, Venier, Rosemarie E., Marcellus, Richard, Al-awar, Rima, Penn, Linda Z., Razak, Albiruni A., Dickson, Brendan C., Chen, Eric, Andrulis, Irene L., Wunder, Jay, Gladdy, Rebecca A.

“…Abstract Introduction and Objective: Undifferentiated pleomorphic sarcoma (UPS) and leiomyosarcoma (LMS) are treated with surgery, radiation, and/or…”
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A germline BARD1 mutation in a patient with Ewing Sarcoma: Implications for familial testing and counseling by Venier, Rosemarie E, Maurer, Lisa M, Kessler, Elena M, Ranganathan, Sarangarajan, McGough, Richard L, Weiss, Kurt R, Malek, Marcus M, Meade, Julia, Tersak, Jean M, Bailey, Kelly M

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