CHEK2 Alterations in Pediatric Malignancy: A Single-Institution Experience

por Abdelghani, Eman, Schieffer, Kathleen M., Cottrell, Catherine E., Audino, Anthony, Zajo, Kristin, Shah, Nilay
Publicado 2023

Reduced total serum bilirubin levels are associated with ulcerative colitis

por Schieffer, Kathleen M., Bruffy, Shannon M., Rauscher, Richard, Koltun, Walter A., Yochum, Gregory S., Gallagher, Carla J.
Publicado 2017

Bacterial and Fungal Microbiota Changes Distinguish C. difficile Infection from Other Forms of Diarrhea: Results of a Prospective Inpatient Study

por Sangster, William, Hegarty, John P., Schieffer, Kathleen M., Wright, Justin R., Hackman, Jada, Toole, David R., Lamendella, Regina, Stewart, David B.
Publicado 2016

Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation

por Miller, Katherine E., Schieffer, Kathleen M., Grischow, Olivia, Rodriguez, Diana P., Cottrell, Catherine E., Leonard, Jeffrey R., Finlay, Jonathan L., Mardis, Elaine R.
Publicado 2021

Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature

por Halsey, Jordan N., Faith, Esteban Fernandez, Logan, Suzanna J., Shenoy, Archana, Schieffer, Kathleen M., Cottrell, Catherine E., Lillis, Anna P., Aldrink, Jennifer H., Setty, Bhuvana A., Pearson, Gregory D.
Publicado 2022

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder–Robinson syndrome

por Marhabaie, Mohammad, Hickey, Scott E., Miller, Katherine, Grischow, Olivia, Schieffer, Kathleen M., Franklin, Samuel J., Gordon, David M., Choi, Samantha, Mihalic Mosher, Theresa, White, Peter, Koboldt, Daniel C., Wilson, Richard K.
Publicado 2021

An unusual case of atypical teratoid/rhabdoid tumor, initially diagnosed as atypical pituitary adenoma in a 13-year-old male patient

por Ronsley, Rebecca, Boué, Daniel R, Venkata, Lakshmi Prakruthi Rao, Scott, Suzanne, Shaikhouni, Ammar, Jones, Jeremy, Schieffer, Kathleen M, Cottrell, Catherine E, Mardis, Elaine R, Olshefski, Randal, Salloum, Ralph, Miller, Katherine E
Publicado 2022

Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements

por Schieffer, Kathleen M., Moccia, Amanda, Bucknor, Brianna A., Stonerock, Eileen, Jayaraman, Vijayakumar, Jenkins, Heather, McKinney, Aimee, Koo, Selene C., Mathew, Mariam T., Mardis, Elaine R., Lee, Kristy, Reshmi, Shalini C., Cottrell, Catherine E.
Publicado 2023

The Microbial Ecosystem Distinguishes Chronically Diseased Tissue from Adjacent Tissue in the Sigmoid Colon of Chronic, Recurrent Diverticulitis Patients

por Schieffer, Kathleen M., Sabey, Kate, Wright, Justin R., Toole, David R., Drucker, Rebecca, Tokarev, Vasily, Harris, Leonard R., Deiling, Sue, Eshelman, Melanie A., Hegarty, John P., Yochum, Gregory S., Koltun, Walter A., Lamendella, Regina, Stewart, David B.
Publicado 2017

Infantile fibrosarcoma–like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinib

por Gupta, Ajay, Belsky, Jennifer A., Schieffer, Kathleen M., Leraas, Kristen, Varga, Elizabeth, McGrath, Sean D., Koo, Selene C., Magrini, Vincent, Wilson, Richard K., White, Peter, Mardis, Elaine R., Jatana, Kris R., Cottrell, Catherine E., Setty, Bhuvana A.
Publicado 2020

Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study

por Miller, Katherine E., Cassady, Kevin A., Roth, Justin C., Clements, Jennifer, Schieffer, Kathleen M., Leraas, Kristen, Miller, Anthony R., Prasad, Nripesh, Leavenworth, Jianmei W., Aban, Inmaculada B., Whitley, Richard J., Gillespie, G. Yancey, Mardis, Elaine R., Markert, James M.
Publicado 2022

Correspondence comprehensive characterization of a brainstem aggregoma (light and heavy chain deposition disease)

por Becker, Aline P., Osorio, Diana S., Bell, Erica H., Giglio, Pierre, Fleming, Jessica L., Cottrell, Catherine E., Mardis, Elaine R., Miller, Katherine E., Schieffer, Kathleen M., Kelly, Benjamin J., Makary, Mina S., Slone, Wayne, Benson, Don, Leonard, Jeffrey, Kahwash, Samir B., Boué, Daniel R., Chakravarti, Arnab
Publicado 2023

EPEN-17. FAVORABLE OUTCOME TO INTENSIVE CHEMOTHERAPY WITHOUT IRRADIATION IN INFANTILE METASTATIC EPENDYMOMA WITH A NOVEL MOLECULAR PROFILE: A CASE REPORT

por de Faria, Flavia W, Schieffer, Kathleen M, Pierson, Christopher, Boué, Daniel, Zumberge, Nicholas, Rusin, Jerome, LaHaye, Stephanie, Miller, Katherine E, Koboldt, Daniel C, Lichtenberg, Tara, Leraas, Kristen, Brennan, Patrick, Kelly, Benjamin, White, Peter, Magrini, Vincent, Wilson, Richard K, Mardis, Elaine R, Osorio, Diana S, Leonard, Jeffrey, Finlay, Jonathan L
Publicado 2020

RARE-37. NOONAN SYNDROME AND GLIONEURONAL TUMORS: A CENTRAL NERVOUS SYSTEM CANCER PREDISPOSITION ASSOCIATION?

por Shatara, Margaret, Varga, Elizabeth A, Boué, Daniel R, Martin, Lisa, Rusin, Jerome A, Rodriguez, Diana P, Jones, Jeremy, McAllister, Aaron, Leonard, Jeffrey R, Pindrik, Jonathan, Schieffer, Kathleen M, Leraas, Kristen M, Lichtenberg, Tara M, Mardis, Elaine R, Cottrell, Catherine E, Osorio, Diana S, AbdelBaki, Mohamed S, Finlay, Jonathan L
Publicado 2020

EPEN-28. NOVEL ONCOGENE AMPLIFICATION IN SPINAL EPENDYMOMA INVOLVING THE MYC LOCUS (8q24)

por Shatara, Margaret, Boué, Daniel R, Pierson, Christopher R, Thomas, Diana L, Sribnick, Eric A, Jones, Jeremy, Rodriguez, Diana P, Schieffer, Kathleen M, Deeg, Carol, Hamelberg, Elizabeth, LaHaye, Stephanie, Magrini, Vincent, Wilson, Richard K, Mardis, Elaine R, Cottrell, Catherine E, Varga, Elizabeth A, AbdelBaki, Mohamed S, Finlay, Jonathan L, Osorio, Diana S
Publicado 2020

Expanding the clinical phenotype of FGFR1 internal tandem duplication

por Kautto, Esko A., Schieffer, Kathleen M., McGrath, Sean, Miller, Anthony R., Hernandez-Gonzalez, Maria Elena, Choi, Samantha, Conces, Miriam R., Fernandez-Faith, Esteban, Ho, Mai-Lan, Lee, Kristy, Lillis, Anna P., Pearson, Gregory D., Kaler, Stephen G., Wilson, Richard K., Mardis, Elaine R., Magrini, Vincent, Leonard, Jeffrey, Cottrell, Catherine E.
Publicado 2022

Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue

por Miller, Katherine E., Koboldt, Daniel C., Schieffer, Kathleen M., Bedrosian, Tracy A., Crist, Erin, Sheline, Adrienne, Leraas, Kristen, Magrini, Vincent, Zhong, Huachun, Brennan, Patrick, Bush, Jocelyn, Fitch, James, Bir, Natalie, Miller, Anthony R., Cottrell, Catherine E., Leonard, Jeffrey, Pindrik, Jonathan A., Rusin, Jerome A., Shah, Summit H., White, Peter, Wilson, Richard K., Mardis, Elaine R., Pierson, Christopher R., Ostendorf, Adam P.
Publicado 2020

Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement

por Miller, Katherine E., Wheeler, Gregory, LaHaye, Stephanie, Schieffer, Kathleen M., Cearlock, Sydney, Venkata, Lakshmi Prakruthi Rao, Bravo, Alejandro Otero, Grischow, Olivia E., Kelly, Benjamin J., White, Peter, Pierson, Christopher R., Boué, Daniel R., Koo, Selene C., Klawinski, Darren, Ranalli, Mark A., Shaikhouni, Ammar, Salloum, Ralph, Shatara, Margaret, Leonard, Jeffrey R., Wilson, Richard K., Cottrell, Catherine E., Mardis, Elaine R., Koboldt, Daniel C.
Publicado 2022

Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependy...

por Shatara, Margaret, Schieffer, Kathleen M., Klawinski, Darren, Thomas, Diana L., Pierson, Christopher R., Sribnick, Eric A., Jones, Jeremy, Rodriguez, Diana P., Deeg, Carol, Hamelberg, Elizabeth, LaHaye, Stephanie, Miller, Katherine E., Fitch, James, Kelly, Benjamin, Leraas, Kristen, Pfau, Ruthann, White, Peter, Magrini, Vincent, Wilson, Richard K., Mardis, Elaine R., Abdelbaki, Mohamed S., Finlay, Jonathan L., Boué, Daniel R., Cottrell, Catherine E., Ghasemi, David R., Pajtler, Kristian W., Osorio, Diana S.
Publicado 2021

ATRT-21. RHABDOID PREDISPOSITION SYNDROME: REPORT OF MOLECULAR PROFILES AND TREATMENT APPROACH IN THREE CHILDREN WITH SYNCHRONOUS ATYPICAL TERATOID/RHABDOID TUMOR AND MALIGNANT RHA...

por Shatara, Margaret, Gupta, Ajay, Arja, Mohamed H Abu, Conley, Suzanne E, Patel, Priyal, Boué, Daniel R, Pierson, Christopher R, Thomas, Diana L, Meyer, Erin K, Shah, Summit H, Jones, Jeremy, Martin, Lisa, McAllister, Aaron, Schieffer, Kathleen M, Varga, Elizabeth A, Leraas, Kristen, Lichtenberg, Tara, LaHaye, Stephanie, Miller, Katherine E, Magrini, Vincent, Wilson, Richard K, Cottrell, Catherine E, Mardis, Elaine R, Aldrink, Jennifer H, Auletta, Jeffery J, Pindrik, Jonathan, Leonard, Jeffrey R, Osorio, Diana S, Finlay, Jonathan L, Ranalli, Mark, AbdelBaki, Mohamed S
Publicado 2020