Hasil Pencarian - Catherine E. Cottrell

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  1. 1
    Structural and Dynamic Analyses of Pathogenic Variants in <i>PIK3R1</i> Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes

    Structural and Dynamic Analyses of Pathogenic Variants in <i>PIK3R1</i> Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes oleh Nikita R. Dsouza, Catherine E. Cottrell, Olivia M. T. Davies, Megha M. Tollefson, Ilona J. Frieden, Donald Basel, Raul Urrutia, Beth A. Drolet, Michael T. Zimmermann

    Diterbitkan 2024-02-01
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  2. 2
    Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature

    Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature oleh Jordan N. Halsey, Esteban Fernandez Faith, Suzanna J. Logan, Archana Shenoy, Kathleen M. Schieffer, Catherine E. Cottrell, Anna P. Lillis, Jennifer H. Aldrink, Bhuvana A. Setty, Gregory D. Pearson

    Diterbitkan 2022-01-01
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  3. 3
    Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined

    Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined oleh Margaret Shatara, Kathleen M. Schieffer, Kathleen M. Schieffer, Kathleen M. Schieffer, Marilena Melas, Elizabeth A. Varga, Diana Thomas, Diana Thomas, Brianna A. Bucknor, Heather M. Costello, Gregory Wheeler, Benjamin J. Kelly, Katherine E. Miller, Katherine E. Miller, Diana P. Rodriguez, Mariam T. Mathew, Mariam T. Mathew, Mariam T. Mathew, Kristy Lee, Kristy Lee, Kristy Lee, Erin Crotty, Sarah Leary, Vera A. Paulson, Bonnie Cole, Mohamed S. Abdelbaki, Jonathan L. Finlay, Margot A. Lazow, Margot A. Lazow, Ralph Salloum, Ralph Salloum, Maryam Fouladi, Maryam Fouladi, Daniel R. Boué, Daniel R. Boué, Elaine R. Mardis, Elaine R. Mardis, Catherine E. Cottrell, Catherine E. Cottrell, Catherine E. Cottrell

    Diterbitkan 2024-09-01
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  4. 4
    Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

    Identification of Medically Actionable Secondary Findings in the 1000 Genomes. oleh Emily Olfson, Catherine E Cottrell, Nicholas O Davidson, Christina A Gurnett, Jonathan W Heusel, Nathan O Stitziel, Li-Shiun Chen, Sarah Hartz, Rakesh Nagarajan, Nancy L Saccone, Laura J Bierut

    Diterbitkan 2015-01-01
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  5. 5
    Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement

    Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement oleh Katherine E. Miller, Katherine E. Miller, Gregory Wheeler, Stephanie LaHaye, Kathleen M. Schieffer, Kathleen M. Schieffer, Kathleen M. Schieffer, Sydney Cearlock, Lakshmi Prakruthi Rao Venkata, Alejandro Otero Bravo, Olivia E. Grischow, Benjamin J. Kelly, Peter White, Peter White, Christopher R. Pierson, Christopher R. Pierson, Christopher R. Pierson, Daniel R. Boué, Daniel R. Boué, Selene C. Koo, Darren Klawinski, Darren Klawinski, Mark A. Ranalli, Mark A. Ranalli, Ammar Shaikhouni, Ammar Shaikhouni, Ralph Salloum, Ralph Salloum, Ralph Salloum, Margaret Shatara, Jeffrey R. Leonard, Jeffrey R. Leonard, Jeffrey R. Leonard, Richard K. Wilson, Richard K. Wilson, Catherine E. Cottrell, Catherine E. Cottrell, Catherine E. Cottrell, Elaine R. Mardis, Elaine R. Mardis, Elaine R. Mardis, Daniel C. Koboldt, Daniel C. Koboldt

    Diterbitkan 2022-07-01
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  6. 6
    Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity

    Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity oleh Saranga Wijeratne, Maria E. Hernandez Gonzalez, Kelli Roach, Katherine E. Miller, Kathleen M. Schieffer, James R. Fitch, Jeffrey Leonard, Peter White, Benjamin J. Kelly, Catherine E. Cottrell, Elaine R. Mardis, Richard K. Wilson, Anthony R. Miller

    Diterbitkan 2024-01-01
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  7. 7
    Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads

    Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads oleh Charlotte A. Darby, James R. Fitch, Patrick J. Brennan, Benjamin J. Kelly, Natalie Bir, Vincent Magrini, Jeffrey Leonard, Catherine E. Cottrell, Julie M. Gastier-Foster, Richard K. Wilson, Elaine R. Mardis, Peter White, Ben Langmead, Michael C. Schatz

    Diterbitkan 2019-08-01
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  8. 8
    De novo primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) NFIA/CBFA2T3 translocation

    De novo primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) NFIA/CBFA2T3 translocation oleh Huifei Liu, Terri L. Guinipero, Kathleen M. Schieffer, Chris Carter, Susan Colace, Jeffrey R. Leonard, Brent A. Orr, Samir B. Kahwash, Patrick J. Brennan, James R. Fitch, Benjamin Kelly, Vincent J. Magrini, Peter White, Richard K. Wilson, Elaine R. Mardis, Catherine E. Cottrell, Daniel R. Boué

    Diterbitkan 2020-04-01
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  9. 9
    Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas

    Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependy... oleh Margaret Shatara, Kathleen M. Schieffer, Darren Klawinski, Diana L. Thomas, Christopher R. Pierson, Eric A. Sribnick, Jeremy Jones, Diana P. Rodriguez, Carol Deeg, Elizabeth Hamelberg, Stephanie LaHaye, Katherine E. Miller, James Fitch, Benjamin Kelly, Kristen Leraas, Ruthann Pfau, Peter White, Vincent Magrini, Richard K. Wilson, Elaine R. Mardis, Mohamed S. Abdelbaki, Jonathan L. Finlay, Daniel R. Boué, Catherine E. Cottrell, David R. Ghasemi, Kristian W. Pajtler, Diana S. Osorio

    Diterbitkan 2021-12-01
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  10. 10
    Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma

    Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma oleh Kathleen M. Schieffer, Alexander Z. Feldman, Esko A. Kautto, Sean McGrath, Anthony R. Miller, Maria Elena Hernandez-Gonzalez, Stephanie LaHaye, Katherine E. Miller, Daniel C. Koboldt, Patrick Brennan, Benjamin Kelly, Amy Wetzel, Vibhuti Agarwal, Margaret Shatara, Suzanne Conley, Diana P. Rodriguez, Rolla Abu-Arja, Ala Shaikhkhalil, Matija Snuderl, Brent A. Orr, Jonathan L. Finlay, Diana S. Osorio, Annie I. Drapeau, Jeffrey R. Leonard, Christopher R. Pierson, Peter White, Vincent Magrini, Elaine R. Mardis, Richard K. Wilson, Catherine E. Cottrell, Daniel R. Boué

    Diterbitkan 2021-04-01
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  11. 11
    Discovery of clinically relevant fusions in pediatric cancer

    Discovery of clinically relevant fusions in pediatric cancer oleh Stephanie LaHaye, James R. Fitch, Kyle J. Voytovich, Adam C. Herman, Benjamin J. Kelly, Grant E. Lammi, Jeremy A. Arbesfeld, Saranga Wijeratne, Samuel J. Franklin, Kathleen M. Schieffer, Natalie Bir, Sean D. McGrath, Anthony R. Miller, Amy Wetzel, Katherine E. Miller, Tracy A. Bedrosian, Kristen Leraas, Elizabeth A. Varga, Kristy Lee, Ajay Gupta, Bhuvana Setty, Daniel R. Boué, Jeffrey R. Leonard, Jonathan L. Finlay, Mohamed S. Abdelbaki, Diana S. Osorio, Selene C. Koo, Daniel C. Koboldt, Alex H. Wagner, Ann-Kathrin Eisfeld, Krzysztof Mrózek, Vincent Magrini, Catherine E. Cottrell, Elaine R. Mardis, Richard K. Wilson, Peter White

    Diterbitkan 2021-12-01
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  12. 12
    A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer

    A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer oleh Chelsea Mayoh, Andrew J. Gifford, Rachael Terry, Loretta M. S. Lau, Marie Wong, Padmashree Rao, Tyler Shai-Hee, Federica Saletta, Dong-Anh Khuong-Quang, Vicky Qin, Marion K. Mateos, Deborah Meyran, Katherine E. Miller, Aysen Yuksel, Emily V. A. Mould, Rachel Bowen-James, Dinisha Govender, Akanksha Senapati, Nataliya Zhukova, Natacha Omer, Hetal Dholaria, Frank Alvaro, Heather Tapp, Yonatan Diamond, Luciano Dalla Pozza, Andrew S. Moore, Wayne Nicholls, Nicholas G. Gottardo, Geoffrey McCowage, Jordan R. Hansford, Seong-Lin Khaw, Paul J. Wood, Daniel Catchpoole, Catherine E. Cottrell, Elaine R. Mardis, Glenn M. Marshall, Vanessa Tyrrell, Michelle Haber, David S. Ziegler, Orazio Vittorio, Joseph A. Trapani, Mark J. Cowley, Paul J. Neeson, Paul G. Ekert

    Diterbitkan 2023-04-01
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