Search Results - "Shlien, Adam"

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Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.

Authors: Shlien, Adam Meier, Bettina Hong, Ye et al.

Source: Nature Genetics. Mar2015, Vol. 47 Issue 3, p257-262. 6p.

Excessive genomic DNA copy number variation in the L1—Fraumeni cancer predisposition syndrome.

Authors: Shlien, Adam Tabori, Uri Marshall, Christian R. et al.

Source: Proceedings of the National Academy of Sciences of the United States of America. 8/12/2008, Vol. 105 Issue 32, p11264-11269. 6p. 1 Diagram, 3 Graphs.

Subjects: Cancer cells, Nucleic acids, DNA, Breast cancer, Cancer genetics

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

Authors: Renzi, Samuele Algawahmed, Fatimah Davidson, Scott et al.

Source: Current Oncology. Jul2023, Vol. 30 Issue 7, p5946-5952. 7p. 1 Color Photograph, 1 Diagram.

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

Authors: Titmuss, Emma Corbett, Richard D. Davidson, Scott et al.

Source: BMC Medical Genomics. 9/7/2022, Vol. 15 Issue 1, p1-7. 7p.

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Aggressive embryonal rhabdomyosarcoma in a 3-month-old boy: A clinical and molecular analysis.

Authors: Renzi, Samuele Langenberg-Ververgaert, Karin Fuligni, Fabio et al.

Source: Pediatric Hematology & Oncology. Oct/Nov2018, Vol. 35 Issue 7/8, p407-414. 8p.

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.

Authors: Randall, Michael P Egolf, Laura E Vaksman, Zalman et al.

Source: JNCI: Journal of the National Cancer Institute. Jan2024, Vol. 116 Issue 1, p138-148. 11p.

Toward a more uniform sampling of human genetic diversity: A survey of worldwide populations by high-density genotyping

Authors: Xing, Jinchuan Watkins, W. Scott Shlien, Adam et al.

Source: Genomics. Oct2010, Vol. 96 Issue 4, p199-210. 12p.

Vaginal Metastases of Wilms' Tumor in a Pediatric Patient: A Rare Case.

Authors: Arion, Kristina Dufour, Stephanie Ramphal, Raveena et al.

Source: Journal of Pediatric & Adolescent Gynecology. Aug2023, Vol. 36 Issue 4, p424-427. 4p.

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Authors: Chalmers, Zachary R. Connelly, Caitlin F. Fabrizio, David et al.

Source: Genome Medicine. 4/19/2017, Vol. 9, p1-14. 14p.

Widespread hypertranscription in aggressive human cancers.

Authors: Zatzman, Matthew Fuligni, Fabio Ripsman, Ryan et al.

Source: Science Advances. 11/25/2022, Vol. 8 Issue 47, p1-18. 18p.

Response to Alpelisib in an Adolescent With PIK3CA -Mutated Metastatic Gastrointestinal Stromal Tumor.

Authors: Cohen-Gogo, Sarah Kanwar, Nisha Shaikh, Furqan et al.

Source: JCO Precision Oncology. 7/2/2022, Vol. 6, p1-5. 5p.

Ethical and Analytic Challenges With Genomic Sequencing of Relapsed Hematologic Malignancies Following Allogeneic Hematopoietic Stem-Cell Transplantation.

Authors: Marwa, Bilal Krueger, Joerg Stephenson, Elizabeth A. et al.

Source: JCO Precision Oncology. 8/25/2021, Vol. 5, p1339-1347. 9p.