Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency–Centromeric Instability–Facial Anomalies Syndrome Type 1

por Kraft, Monica T., Mehyar, Lubna S., Prince, Benjamin T., Reshmi, Shalini C., Abraham, Roshini S., Abu-Arja, Rolla
Publicado 2021

Variability in pathogenicity prediction programs: impact on clinical diagnostics

por Walters-Sen, Lauren C, Hashimoto, Sayaka, Thrush, Devon Lamb, Reshmi, Shalini, Gastier-Foster, Julie M, Astbury, Caroline, Pyatt, Robert E
Publicado 2015

5′ ALK Amplification in Neuroblastoma: A Case Report

por Akhavanfard, Sara, Nohr, Erik, AlNajjar, Mohammad, Haughn, Mollie, Hashimoto, Sayaka, Deeg, Carol, Pfau, Ruthann, Brundler, Marie-Anne, Reshmi, Shalini C.
Publicado 2021

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

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder

por Hunter, Jesse M., Massingham, Lauren J., Manickam, Kandamurugu, Bartholomew, Dennis, Williamson, Rachel K., Schwab, Jennifer L., Marhabaie, Mohammad, Siemon, Amy, de los Reyes, Emily, Reshmi, Shalini C., Cottrell, Catherine E., Wilson, Richard K., Koboldt, Daniel C.
Publicado 2022

High Incidence of Philadelphia Chromosome-Like Acute Lymphoblastic Leukemia (Ph-like ALL) in Older Adults with B-ALL

por Tasian, Sarah K, Hurtz, Christian, Wertheim, Gerald B, Bailey, Nathanael G, Lim, Megan S, Harvey, Richard C, Chen, I-Ming, Willman, Cheryl L, Astles, Rachel, Zebrowski, Alexis, Reshmi, Shalini C, Li, Marilyn M, Frey, Noelle V, Luger, Selina M, Carroll, Martin, Perl, Alexander E
Publicado 2016

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience

por Miller, Cecelia R., Lee, Kristy, Pfau, Ruthann B., Reshmi, Shalini C., Corsmeier, Donald J., Hashimoto, Sayaka, Dave-Wala, Ashita, Jayaraman, Vijayakumar, Koboldt, Daniel, Matthews, Theodora, Mouhlas, Danielle, Stein, Maggie, McKinney, Aimee, Grossman, Tom, Kelly, Benjamin J., White, Peter, Magrini, Vincent, Wilson, Richard K., Mardis, Elaine R., Cottrell, Catherine E.
Publicado 2020

Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia

por Gu, Zhaohui, Churchman, Michelle, Roberts, Kathryn, Li, Yongjin, Liu, Yu, Harvey, Richard C., McCastlain, Kelly, Reshmi, Shalini C., Payne-Turner, Debbie, Iacobucci, Ilaria, Shao, Ying, Chen, I-Ming, Valentine, Marcus, Pei, Deqing, Mungall, Karen L., Mungall, Andrew J., Ma, Yussanne, Moore, Richard, Marra, Marco, Stonerock, Eileen, Gastier-Foster, Julie M., Devidas, Meenakshi, Dai, Yunfeng, Wood, Brent, Borowitz, Michael, Larsen, Eric E., Maloney, Kelly, Mattano Jr, Leonard A., Angiolillo, Anne, Salzer, Wanda L., Burke, Michael J., Gianni, Francesca, Spinelli, Orietta, Radich, Jerald P., Minden, Mark D., Moorman, Anthony V., Patel, Bella, Fielding, Adele K., Rowe, Jacob M., Luger, Selina M., Bhatia, Ravi, Aldoss, Ibrahim, Forman, Stephen J., Kohlschmidt, Jessica, Mrózek, Krzysztof, Marcucci, Guido, Bloomfield, Clara D., Stock, Wendy, Kornblau, Steven, Kantarjian, Hagop M., Konopleva, Marina, Paietta, Elisabeth, Willman, Cheryl L., L. Loh, Mignon, P. Hunger, Stephen, Mullighan, Charles G.
Publicado 2016