Recommendations for future extensions to the HGNC gene fusion nomenclature

por Wagner, Alex H., Akkari, Yassmine, Li, Marilyn, Roy, Angshumoy, Tsuchiya, Karen, Raca, Gordana
Publicado 2021

Correction to: Recommendations for future extensions to the HGNC gene fusion nomenclature

por Wagner, Alex H., Akkari, Yassmine, Li, Marilyn, Roy, Angshumoy, Tsuchiya, Karen, Raca, Gordana
Publicado 2021

Multimodal molecular analysis of an atypical small cell carcinoma of the ovary, hypercalcemic type

por David, Marjorie P., Venkatramani, Rajkumar, Lopez-Terrada, Dolores H., Roy, Angshumoy, Patil, Ninad, Fisher, Kevin E.
Publicado 2018

Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity

por Hirschi, Owen R., Felker, Stephanie A., Rednam, Surya P., Vallance, Kelly L., Parsons, D. Williams, Roy, Angshumoy, Cooper, Gregory M., Plon, Sharon E.
Publicado 2023

Standardizing And Democratizing Access To Cancer Molecular Diagnostic Test Data From Patients To Drive Translational Research

por Madhavan, Subha, Ritter, Deborah, Micheel, Christine, Rao, Shruti, Roy, Angshumoy, Sonkin, Dmitriy, Mccoy, Matthew, Griffith, Malachi, Griffith, Obi L, Mcgarvey, Peter, Kulkarni, Shashikant
Publicado 2018

Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency

por Lindsay, Holly, Scollon, Sarah, Reuther, Jacquelyn, Voicu, Horatiu, Rednam, Surya P., Lin, Frank Y., Fisher, Kevin E., Chintagumpala, Murali, Adesina, Adekunle M., Parsons, D. Will, Plon, Sharon E., Roy, Angshumoy
Publicado 2019

Successful treatment of lipofibromatosis-like neural tumor of the lumbar spine with an NTRK-fusion inhibitor

por Dupuis, Megan, Shen, Yulei, Curcio, Christian, Meis, Jeanne M., Wang, Wei-Lien, Amini, Behrang, Rhines, Laurence, Reuther, Jacquelyn, Roy, Angshumoy, Fisher, Kevin E., Conley, Anthony P., Andrew Livingston, J.
Publicado 2020

GASZ Is Essential for Male Meiosis and Suppression of Retrotransposon Expression in the Male Germline

por Ma, Lang, Buchold, Gregory M., Greenbaum, Michael P., Roy, Angshumoy, Burns, Kathleen H., Zhu, Huifeng, Han, Derek Y., Harris, R. Alan, Coarfa, Cristian, Gunaratne, Preethi H., Yan, Wei, Matzuk, Martin M.
Publicado 2009

Correction: GASZ Is Essential for Male Meiosis and Suppression of Retrotransposon Expression in the Male Germline

por Ma, Lang, Buchold, Gregory M., Greenbaum, Michael P., Roy, Angshumoy, Burns, Kathleen H., Zhu, Huifeng, Han, Derek Y., Harris, R. Alan, Coarfa, Cristian, Gunaratne, Preethi H., Yan, Wei, Matzuk, Martin M.
Publicado 2009

LGG-04. Clinical and molecular characterization of metastatic pediatric low grade gliomas

por Lindsay, Holly, Stuckert, Austin, Chintagumpala, Murali, Su, Jack, Baxter, Patricia, Okcu, M Fatih, Malbari, Fatema, Rednam, Surya, Reuther, Jacquelyn, Fisher, Kevin, Scollon, Sarah, Plon, Sharon, Roy, Angshumoy, Parsons, D Will, Lin, Frank
Publicado 2022

PATH-27. MUTATION DETECTION USING PLASMA CELL-FREE DNA IN CHILDREN WITH CENTRAL NERVOUS SYSTEM TUMORS

por Mangum, Ross, Reuther, Jacquelyn, Baksi, Koel Sen, Zabriskie, Ryan C, Gandhi, Ilavarasi, Recinos, Alva, Potter, Samara L, Lin, Frank Y, Chintagumpala, Murali, Muzny, Donna M, Fisher, Kevin, Plon, Sharon E, Roy, Angshumoy, Parsons, D Williams
Publicado 2020

EPEN-25. EXCEPTIONAL CLINICAL AND IMAGING RESPONSE TO TRK-INHIBITION IN A PATIENT WITH SUPRATENTORIAL EPENDYMOMA HARBORING NTRK2 GENE FUSION

por Mangum, Ross, Reuther, Jacquelyn, Adesina, Adekunle, Kukreja, Marcia, Curry, Daniel, Malbari, Fatema, Chintagumpala, Murali, Muzny, Donna M, Fisher, Kevin, Roy, Angshumoy, Bertrand, Kelsey C, Mack, Stephen C, Plon, Sharon E, Parsons, D Williams, Lin, Frank Y
Publicado 2020

Novel PDGFRB rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinib

por Hassan, Mohammed, Butler, Erin, Wilson, Raphael, Roy, Angshumoy, Zheng, Yanbin, Liem, Priscilla, Rakheja, Dinesh, Pavlick, Dean, Young, Lauren L., Rosenzweig, Mark, Erlich, Rachel, Ali, Siraj M., Leavey, Patrick J., Parsons, D. Williams, Skapek, Stephen X., Laetsch, Theodore W.
Publicado 2019

Inferring clonal composition from multiple tumor biopsies

por Manica, Matteo, Kim, Hyunjae Ryan, Mathis, Roland, Chouvarine, Philippe, Rutishauser, Dorothea, De Vargas Roditi, Laura, Szalai, Bence, Wagner, Ulrich, Oehl, Kathrin, Saba, Karim, Pati, Arati, Saez-Rodriguez, Julio, Roy, Angshumoy, Parsons, Donald W., Wild, Peter J., Martínez, María Rodríguez, Sumazin, Pavel
Publicado 2020

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth vent...

por Lin, Frank Y., Bergstrom, Katie, Person, Richard, Bavle, Abhishek, Ballester, Leomar Y., Scollon, Sarah, Raesz-Martinez, Robin, Jea, Andrew, Birchansky, Sherri, Wheeler, David A., Berg, Stacey L., Chintagumpala, Murali M., Adesina, Adekunle M., Eng, Christine, Roy, Angshumoy, Plon, Sharon E., Parsons, D. Williams
Publicado 2016

Somatic cancer variant curation and harmonization through consensus minimum variant level data

por Ritter, Deborah I., Roychowdhury, Sameek, Roy, Angshumoy, Rao, Shruti, Landrum, Melissa J., Sonkin, Dmitriy, Shekar, Mamatha, Davis, Caleb F., Hart, Reece K., Micheel, Christine, Weaver, Meredith, Van Allen, Eliezer M., Parsons, Donald W., McLeod, Howard L., Watson, Michael S., Plon, Sharon E., Kulkarni, Shashikant, Madhavan, Subha
Publicado 2016

BCOR-CCNB3 Fusions Are Frequent in Undifferentiated Sarcomas of Male Children

por Peters, Tricia L., Kumar, Vijetha, Polikepahad, Sumanth, Lin, Frank Y., Sarabia, Stephen F., Liang, Yu, Wang, Wei-Lien, Lazar, Alexander J., Doddapaneni, Harsha Vardhan, Chao, Hsu, Muzny, Donna M., Wheeler, David A., Okcu, M. Fatih, Plon, Sharon E., Hicks, M. John, López-Terrada, Dolores, Parsons, D. Williams, Roy, Angshumoy
Publicado 2014

METB-06. HIGH FREQUENCY OF CLINICALLY RELEVANT ALTERATIONS DETECTED BY INTEGRATED TUMOR AND GERMLINE GENE PANEL TESTING IN CHILDREN WITH CNS TUMORS – RESULTS FROM THE TEXAS KIDSCAN...

por Lin, Frank Y, Desrosiers, Lauren, Mangum, Ross, Reuther, Jacquelyn, Mohila, Carrie, Blessing, Melissa M, Aldave, Guillermo, Muzny, Donna M, Bernini, Juan Carlos, Gill, Jonathan, Griffin, Timothy, Tomlinson, Gail, Vallance, Kelly, Chintagumpala, Murali M, Scollon, Sarah, López-Terrada, Dolores H, Fisher, Kevin E, Roy, Angshumoy, Plon, Sharon E, Parsons, D Williams
Publicado 2023

Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community‐driven standards

por Danos, Arpad M., Ritter, Deborah I., Wagner, Alex H., Krysiak, Kilannin, Sonkin, Dmitriy, Micheel, Christine, McCoy, Matthew, Rao, Shruti, Raca, Gordana, Boca, Simina M., Roy, Angshumoy, Barnell, Erica K., McMichael, Joshua F., Kiwala, Susanna, Coffman, Adam C., Kujan, Lynzey, Kulkarni, Shashikant, Griffith, Malachi, Madhavan, Subha, Griffith, Obi L.
Publicado 2018

PATH-29. HIGH FREQUENCY OF CLINICALLY-RELEVANT TUMOR VARIANTS DETECTED BY MOLECULAR TESTING OF HIGH-RISK PEDIATRIC CNS TUMORS – PRELIMINARY FINDINGS FROM THE TEXAS KidsCanSeq STUDY...

por Lin, Frank Y, Mangum, Ross, Reuther, Jacquelyn, Potter, Samara L, López-Terrada, Dolores H, Adesina, Adekunle M, Mohila, Carrie A, Aldave, Guillermo, Chintagumpala, Murali M, Muzny, Donna M, Bernini, Juan Carlos, Gill, Jonathan, Griffin, Timothy, Tomlinson, Gail, Vallance, Kelly, Fisher, Kevin E, Roy, Angshumoy, Plon, Sharon E, Parsons, D Williams
Publicado 2020