Molecular characterization of AML‐MRC reveals TP53 mutation as an adverse prognostic factor irrespective of MRC‐defining criteria, TP53 allelic state, or TP53 variant allele freque... von Zhao, Davidson, Eladl, Entsar, Zarif, Mojgan, Capo‐Chichi, José‐Mario, Schuh, Andre, Atenafu, Eshetu, Minden, Mark, Chang, Hong

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De novo mutations in moderate or severe intellectual disability von Hamdan, Fadi F, Srour, Myriam, Capo-Chichi, Jose-Mario, Daoud, Hussein, Nassif, Christina, Patry, Lysanne, Massicotte, Christine, Ambalavanan, Amirthagowri, Spiegelman, Dan, Diallo, Ousmane, Henrion, Edouard, Dionne-Laporte, Alexandre, Fougerat, Anne, Pshezhetsky, Alexey V, Venkateswaran, Sunita, Rouleau, Guy A, Michaud, Jacques L

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Colorectal large‐cell neuroendocrine carcinoma with lymphoid stroma: further evidence confirming a unique subtype associated with MLH1/PMS2 loss, BRAF mutation, Epstein–Barr virus... von Chetty, Runjan, Capo‐Chichi, Jose‐Mario, Serra, Stefano

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Heterogenous loss of mismatch repair (MMR) protein expression: a challenge for immunohistochemical interpretation and microsatellite instability (MSI) evaluation von McCarthy, Aoife J, Capo‐Chichi, Jose‐Mario, Spence, Tara, Grenier, Sylvie, Stockley, Tracy, Kamel‐Reid, Suzanne, Serra, Stefano, Sabatini, Peter, Chetty, Runjan

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Prognostic relevance of CD123 expression in adult AML with normal karyotype von Jiang, Gina, Atenafu, Eshetu G., Capo‐Chichi, Jose‐Mario, Minden, Mark D., Chang, Hong

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Mixed phenotype acute leukaemia with predominant myeloid blasts and a small subset of B/myeloid blasts shares the same mutation profile von Capitano, Mario, Capo‐Chichi, Jose‐Mario, Minden, Mark D., Chang, Hong

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A t(6;14;9)(p22;q22;q34) three‐way translocation: Description of a cytogenetically visible variant t(6;9) in acute myeloid leukemia von Smith, Adam C., Maze, Dawn, Xia, Daniel, Capo‐Chichi, Jose‐Mario, King, Ian, Sibai, Hassan

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Association of frailty with clinical outcomes in myelofibrosis: a retrospective cohort study von Bankar, Aniket, Alibhai, Shabbir, Smith, Elliot, Yang, Dongyang, Malik, Sarah, Cheung, Verna, Siddiq, Nancy, Claudio, Jaime, Arruda, Andrea, Tsui, Hubert, Capo‐Chichi, Jose‐Mario, Kennedy, James A., McNamara, Caroline, Sibai, Hassan, Maze, Dawn, Xu, Wei, Gupta, Vikas

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TP53 Mutations in AML Patients Are Associated with Dismal Clinical Outcome Irrespective of Frontline Induction Regimen and Allogeneic Hematopoietic Cell Transplantation von Zhao, Davidson, Zarif, Mojgan, Zhou, Qianghua, Capo-Chichi, José-Mario, Schuh, Andre, Minden, Mark D, Atenafu, Eshetu G, Kumar, Rajat, Chang, Hong

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Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia von Seto, Andrew, Downs, Gregory, King, Olivia, Salehi-Rad, Shabnam, Baptista, Ana, Chin, Kayu, Grenier, Sylvie, Nwachukwu, Bevoline, Tierens, Anne, Minden, Mark D, Smith, Adam C, Capo-Chichi, José-Mario

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Acute myeloid leukemia with myelodysplasia-related changes diagnosed with multilineage dysplasia alone demonstrates a superior clinical outcome von Jiang, Gina, Capo-Chichi, Jose-Mario, Liu, Aijun, Atenafu, Eshetu G., Guo, Robert, Tierens, Ann, Minden, Mark D., Chang, Hong

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Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population von Srour, Myriam, Schwartzentruber, Jeremy, Hamdan, Fadi F., Ospina, Luis H., Patry, Lysanne, Labuda, Damian, Massicotte, Christine, Dobrzeniecka, Sylvia, Capo-Chichi, José-Mario, Papillon-Cavanagh, Simon, Samuels, Mark E., Boycott, Kym M., Shevell, Michael I., Laframboise, Rachel, Désilets, Valérie, Maranda, Bruno, Rouleau, Guy A., Majewski, Jacek, Michaud, Jacques L.

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Unique MLH1 mutations in colonic adenomas in an obligate germline Lynch syndrome carrier von Serra, Stefano, Capo-Chichi, Jose-Mario, McCarthy, Aoife J, Sabatini, Peter, Chetty, Runjan

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Exclusion of persistent mutations in splicing factor genes and isocitrate dehydrogenase 2 improves the prognostic power of molecular measurable residual disease assessment in acute... von Murphy, Tracy, Zou, Jinfeng, Arruda, Andrea, Wang, Ting Ting, Zhao, Zhen, Zheng, Yangqiao, Gupta, Vikas, Maze, Dawn, McNamara, Caroline, Minden, Mark D, Schimmer, Aaron, Sibai, Hassan, Yee, Karen, Capo-Chichi, Jose-Mario, Stockley, Tracy, Schuh, Andre, Bratman, Scott V, Chan, Steven M

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Emerging patterns in clonal haematopoiesis von Capo-Chichi, Jose-Mario, Michaels, Phillip, Tremblay-Le May, Rosemarie, Abelson, Sagi, Hasserjian, Robert Paul, Xia, Daniel

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Biallelic disruption of DDX41 activity is associated with distinct genomic and immunophenotypic hallmarks in acute leukemia von Tierens, Anne, Kagotho, Elizabeth, Shinriki, Satoru, Seto, Andrew, Smith, Adam C, Care, Melanie, Maze, Dawn, Sibai, Hassan, Yee, Karen W, Schuh, Andre C, Kim, Dennis Dong Hwan, Gupta, Vikas, Minden, Mark D, Matsui, Hirotaka, Capo-Chichi, José-Mario

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The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care von Shickh, Salma, Rafferty, Sara A., Clausen, Marc, Kodida, Rita, Mighton, Chloe, Panchal, Seema, Lorentz, Justin, Ward, Thomas, Watkins, Nicholas, Elser, Christine, Eisen, Andrea, Carroll, June C., Glogowski, Emily, Schrader, Kasmintan A., Lerner-Ellis, Jordan, Kim, Raymond H., Chitayat, David, Shuman, Cheryl, Bombard, Yvonne, Bombard, Yvonne, Armel, Susan, Aronson, Melyssa, Baxter, Nancy, Bond, Kenneth, Capo-Chichi, José-Mario, Caulfield, Timothy, Clifford, Tammy, Cohn, Iris, Dhalla, Irfan, Earle, Craig C., Evans, Mike, Graham, Tracy, Hamilton, Jada G., Isaranuwatchai, Wanrudee, Kastner, Monika, Laupacis, Andreas, Morel, Chantal F., Mujoomdar, Michelle, Offit, Kenneth, Robson, Mark E., Scheer, Adena, Scherer, Stephen W., Sullivan, Terrence, Thorpe, Kevin E.

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The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia von Mehawej, Cybel, Delahodde, Agnès, Legeai-Mallet, Laurence, Delague, Valérie, Kaci, Nabil, Desvignes, Jean-Pierre, Kibar, Zoha, Capo-Chichi, José-Mario, Chouery, Eliane, Munnich, Arnold, Cormier-Daire, Valérie, Mégarbané, André

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Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome von Capo-Chichi, José-Mario, Bharti, Sanjay Kumar, Sommers, Joshua A., Yammine, Tony, Chouery, Eliane, Patry, Lysanne, Rouleau, Guy A., Samuels, Mark E., Hamdan, Fadi F., Michaud, Jacques L., Brosh Jr, Robert M., Mégarbane, André, Kibar, Zoha

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The Clinical Utility of FLT3 Mutation Testing in Acute Leukemia: A Canadian Consensus von Bergeron, Julie, Capo-Chichi, Jose-Mario, Tsui, Hubert, Mahe, Etienne, Berardi, Philip, Minden, Mark D, Brandwein, Joseph M, Schuh, Andre C

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