Zobrazeno 1 - 10
of 116
pro vyhledávání: '"M, Schieffer"'
Autor:
Ann M. Kebede, Elizabeth A. R. Garfinkle, Mariam T. Mathew, Elizabeth Varga, Susan I. Colace, Gregory Wheeler, Benjamin J. Kelly, Kathleen M. Schieffer, Katherine E. Miller, Elaine R. Mardis, Catherine E. Cottrell, Samara L. Potter
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
Despite the increasing availability of comprehensive next generation sequencing (NGS), its role in characterizing pediatric hematologic malignancies remains undefined. We describe findings from comprehensive genomic profiling of hematologic malignanc
Externí odkaz:
https://doaj.org/article/41eb05d2f3644a81ac231433853ed0ac
Autor:
Margaret Shatara, Kathleen M. Schieffer, Marilena Melas, Elizabeth A. Varga, Diana Thomas, Brianna A. Bucknor, Heather M. Costello, Gregory Wheeler, Benjamin J. Kelly, Katherine E. Miller, Diana P. Rodriguez, Mariam T. Mathew, Kristy Lee, Erin Crotty, Sarah Leary, Vera A. Paulson, Bonnie Cole, Mohamed S. Abdelbaki, Jonathan L. Finlay, Margot A. Lazow, Ralph Salloum, Maryam Fouladi, Daniel R. Boué, Elaine R. Mardis, Catherine E. Cottrell
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
IntroductionIn the setting of pediatric and adolescent young adult cancer, increased access to genomic profiling has enhanced the detection of genetic variation associated with cancer predisposition, including germline syndromic conditions. Noonan sy
Externí odkaz:
https://doaj.org/article/3f7187b0ada1421ea4a77df0475dfdd6
Autor:
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
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-19 (2024)
Abstract Background Cancers exhibit complex transcriptomes with aberrant splicing that induces isoform-level differential expression compared to non-diseased tissues. Transcriptomic profiling using short-read sequencing has utility in providing a cos
Externí odkaz:
https://doaj.org/article/64402f5c949841d693df43c099c66531
Autor:
Joie O. Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying‐Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M. Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine Cottrell, Mariam T. Mathew, Marco L. Leung
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)
Abstract Background Chromosomal microarray (CMA) is commonly utilized in the obstetrics setting. CMA is recommended when one or more fetal structural abnormalities is identified. CMA is also commonly used to determine genetic etiologies for miscarria
Externí odkaz:
https://doaj.org/article/cbb336865d6a46b69f88f107894147da
Autor:
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
Publikováno v:
BMC Genomics, Vol 22, Iss 1, Pp 1-16 (2021)
Abstract Background Pediatric cancers typically have a distinct genomic landscape when compared to adult cancers and frequently carry somatic gene fusion events that alter gene expression and drive tumorigenesis. Sensitive and specific detection of g
Externí odkaz:
https://doaj.org/article/1bf38c799d7f4ba18515aabb9dbe24f1
Autor:
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
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-10 (2021)
Abstract Primary spinal cord tumors contribute to ≤ 10% of central nervous system tumors in individuals of pediatric or adolescent age. Among intramedullary tumors, spinal ependymomas make up ~ 30% of this rare tumor population. A twelve-year-old m
Externí odkaz:
https://doaj.org/article/caf4e2efb62e4d51aaa27696a5bedd05
Autor:
Katherine E. Miller, Gregory Wheeler, Stephanie LaHaye, Kathleen M. Schieffer, Sydney Cearlock, Lakshmi Prakruthi Rao Venkata, Alejandro Otero Bravo, Olivia E. Grischow, Benjamin J. Kelly, Peter White, Christopher R. Pierson, Daniel R. Boué, Selene C. Koo, Darren Klawinski, Mark A. Ranalli, Ammar Shaikhouni, Ralph Salloum, Margaret Shatara, Jeffrey R. Leonard, Richard K. Wilson, Catherine E. Cottrell, Elaine R. Mardis, Daniel C. Koboldt
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
Rhabdoid tumors (RTs) of the brain (atypical teratoid/rhabdoid tumor; AT/RT) and extracranial sites (most often the kidney; RTK) are malignant tumors predominantly occurring in children, frequently those with SMARCB1 germline alterations. Here we pre
Externí odkaz:
https://doaj.org/article/6f21c87851ce462a9ed11e94397b6312
Autor:
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
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-11 (2021)
Abstract Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of sellar-suprasellar region retinoblastoma without evidence of ocular or pineal tumor
Externí odkaz:
https://doaj.org/article/85b8e7d1df914feb8bd8c86c7a9bff75
Autor:
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
Publikováno v:
Case Reports in Dermatological Medicine, Vol 2022 (2022)
Syringocystadenocarcinoma papilliferum (SCACP) is a rare malignant neoplasm arising from adnexal tissues and is the malignant complement to the benign neoplasm syringocystadenoma papilliferum (SCAP). SCACP lesions appear as raised nodules or inflamma
Externí odkaz:
https://doaj.org/article/2b4795dd71d2490d9df0736f28522d5b
Autor:
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
Publikováno v:
Haematologica, Vol 105, Iss 4 (2020)
Externí odkaz:
https://doaj.org/article/f591402cd6d943fab0688c632132fcaf