Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation von Bhat, Shreyas, Rousseau, Justine, Michaud, Coralie, Lourenço, Charles Marques, Stoler, Joan M., Louie, Raymond J., Clarkson, Lola K., Lichty, Angie, Koboldt, Daniel C., Reshmi, Shalini C., Sisodiya, Sanjay M., Hoytema van Konijnenburg, Eva M.M., Koop, Klaas, van Hasselt, Peter M., Démurger, Florence, Dubourg, Christèle, Sullivan, Bonnie R., Hughes, Susan S., Thiffault, Isabelle, Tremblay, Elisabeth Simard, Accogli, Andrea, Srour, Myriam, Blunck, Rikard, Campeau, Philippe M.

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Janet Davison Rowley, M.D. (1925–2013) von Gollin, Susanne M., Reshmi, Shalini C.

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Cytogenetic and genetic pathways in therapy-related acute myeloid leukemia von Qian, Zhijian, Joslin, John M., Tennant, Thelma R., Reshmi, Shalini C., Young, David J., Stoddart, Angela, Larson, Richard A., Le Beau, Michelle M.

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The genomic landscape of pediatric acute lymphoblastic leukemia von Brady, Samuel W., Roberts, Kathryn G., Gu, Zhaohui, Shi, Lei, Pounds, Stanley, Pei, Deqing, Cheng, Cheng, Dai, Yunfeng, Devidas, Meenakshi, Qu, Chunxu, Hill, Ashley N., Payne-Turner, Debbie, Ma, Xiaotu, Iacobucci, Ilaria, Baviskar, Pradyuamna, Wei, Lei, Arunachalam, Sasi, Hagiwara, Kohei, Liu, Yanling, Flasch, Diane A., Liu, Yu, Parker, Matthew, Chen, Xiaolong, Elsayed, Abdelrahman H., Pathak, Omkar, Li, Yongjin, Fan, Yiping, Michael, J. Robert, Rusch, Michael, Wilkinson, Mark R., Foy, Scott, Hedges, Dale J., Newman, Scott, Zhou, Xin, Wang, Jian, Reilly, Colleen, Sioson, Edgar, Rice, Stephen V., Pastor Loyola, Victor, Wu, Gang, Rampersaud, Evadnie, Reshmi, Shalini C., Gastier-Foster, Julie, Guidry Auvil, Jaime M., Gesuwan, Patee, Smith, Malcolm A., Winick, Naomi, Carroll, Andrew J., Heerema, Nyla A., Harvey, Richard C., Willman, Cheryl L., Larsen, Eric, Raetz, Elizabeth A., Borowitz, Michael J., Wood, Brent L., Carroll, William L., Zweidler-McKay, Patrick A., Rabin, Karen R., Mattano, Leonard A., Maloney, Kelly W., Winter, Stuart S., Burke, Michael J., Salzer, Wanda, Dunsmore, Kimberly P., Angiolillo, Anne L., Crews, Kristine R., Downing, James R., Jeha, Sima, Pui, Ching-Hon, Evans, William E., Yang, Jun J., Relling, Mary V., Gerhard, Daniela S., Loh, Mignon L., Hunger, Stephen P., Zhang, Jinghui, Mullighan, Charles G.

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5′ ALK Amplification in Neuroblastoma: A Case Report von Akhavanfard, Sara, Nohr, Erik, AlNajjar, Mohammad, Haughn, Mollie, Hashimoto, Sayaka, Deeg, Carol, Pfau, Ruthann, Brundler, Marie-Anne, Reshmi, Shalini C.

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Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia von 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.

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Prognostic impact of kinase-activating fusions and IKZF1 deletions in pediatric high-risk B-lineage acute lymphoblastic leukemia von Tran, Thai Hoa, Harris, Marian H., Nguyen, Jonathan V., Blonquist, Traci M., Stevenson, Kristen E., Stonerock, Eileen, Asselin, Barbara L., Athale, Uma H., Clavell, Luis A., Cole, Peter D., Kelly, Kara M., Laverdiere, Caroline, Leclerc, Jean-Marie, Michon, Bruno, Schorin, Marshall A., Welch, Jennifer J.G., Reshmi, Shalini C., Neuberg, Donna S., Sallan, Stephen E., Loh, Mignon L., Silverman, Lewis B.

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Chromosomal imbalances in oral squamous cell carcinoma: Examination of 31 cell lines and review of the literature von Martin, Christa Lese, Reshmi, Shalini C, Ried, Thomas, Gottberg, William, Wilson, John W, Reddy, Jaya K, Khanna, Poornima, Johnson, Jonas T, Myers, Eugene N, Gollin, Susanne M

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Genomic and outcome analyses of Ph-like ALL in NCI standard-risk patients: a report from the Children's Oncology Group von Roberts, Kathryn G., Reshmi, Shalini C., Harvey, Richard C., Chen, I-Ming, Patel, Kinnari, Stonerock, Eileen, Jenkins, Heather, Dai, Yunfeng, Valentine, Marc, Gu, Zhaohui, Zhao, Yaqi, Zhang, Jinghui, Payne-Turner, Debbie, Devidas, Meenakshi, Heerema, Nyla A., Carroll, Andrew J., Raetz, Elizabeth A., Borowitz, Michael J., Wood, Brent L., Mattano, Leonard A., Maloney, Kelly W., Carroll, William L., Loh, Mignon L., Willman, Cheryl L., Gastier-Foster, Julie M., Mullighan, Charles G., Hunger, Stephen P.

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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum von Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, Tartaglia, Marco

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Noncoding genetic variation in GATA3 increases acute lymphoblastic leukemia risk through local and global changes in chromatin conformation von Yang, Hongbo, Zhang, Hui, Luan, Yu, Liu, Tingting, Yang, Wentao, Roberts, Kathryn G., Qian, Mao-xiang, Zhang, Bo, Yang, Wenjian, Perez-Andreu, Virginia, Xu, Jie, Iyyanki, Sriranga, Kuang, Da, Stasiak, Lena A., Reshmi, Shalini C., Gastier-Foster, Julie, Smith, Colton, Pui, Ching-Hon, Evans, William E., Hunger, Stephen P., Platanias, Leonidas C., Relling, Mary V., Mullighan, Charles G., Loh, Mignon L., Yue, Feng, Yang, Jun J.

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ZMIZ1::ABL1 Fusion: An Uncommon Molecular Event With Clinical Implications in Pediatric Cancer von Booth, Kevin T A, Schulte, Rachael R, Smith, Laurin, Gao, Hongyu, Stohler, Ryan A, Liu, Yunlong, Reshmi, Shalini C, Vance, Gail H

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Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors von Bennett, Jeffrey S., Bernhardt, Madison, McBride, Kim L., Reshmi, Shalini C., Zmuda, Erik, Kertesz, Naomi J., Garg, Vidu, Fitzgerald-Butt, Sara, Kamp, Anna N.

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Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency–Centromeric Instability–Facial Anomalies Syndrome Type 1 von Kraft, Monica T., Mehyar, Lubna S., Prince, Benjamin T., Reshmi, Shalini C., Abraham, Roshini S., Abu-Arja, Rolla

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

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Dasatinib with intensive chemotherapy in de novo paediatric Philadelphia chromosome-positive acute lymphoblastic leukaemia (CA180-372/COG AALL1122): a single-arm, multicentre, phas... von Hunger, Stephen P, Tran, Thai Hoa, Saha, Vaskar, Devidas, Meenakshi, Valsecchi, Maria Grazia, Gastier-Foster, Julie M, Cazzaniga, Giovanni, Reshmi, Shalini C, Borowitz, Michael J, Moorman, Anthony V, Heerema, Nyla A, Carroll, Andrew J, Martin-Regueira, Patricia, Loh, Mignon L, Raetz, Elizabeth A, Schultz, Kirk R, Slayton, William B, Cario, Gunnar, Schrappe, Martin, Silverman, Lewis B, Biondi, Andrea

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Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype von Reshmi, Shalini C, Miller, Jennifer L, Deplewski, Dianne, Close, Clare, Henderson, Leslie J, Littlejohn, Elizabeth, Schwartz, Stuart, Waggoner, Darrel J

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Loss of DNA polymerase ζ causes chromosomal instability in mammalian cells von WITTSCHIEBEN, John P, RESHMI, Shalini C, GOLLIN, Susanne M, WOOD, Richard D

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

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Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy von Santoro, Stephanie L., Hashimoto, Sayaka, McKinney, Aimee, Mihalic Mosher, Theresa, Pyatt, Robert, Reshmi, Shalini C., Astbury, Caroline, Hickey, Scott E.

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