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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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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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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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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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 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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Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly von Capo-Chichi, José-Mario, Tcherkezian, Joseph, Hamdan, Fadi F, Décarie, Jean Claude, Dobrzeniecka, Sylvia, Patry, Lysanne, Nadon, Marc-Antoine, Mucha, Bettina E, Major, Philippe, Shevell, Michael, Ouled Amar Bencheikh, Bouchra, Joober, Ridha, Samuels, Mark E, Rouleau, Guy A, Roux, Philippe P, Michaud, Jacques L

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NPM1-mutated AML-MRC diagnosed on the basis of history of MDS or MDS/MPN frequently harbours secondary-type mutations and confers inferior outcome compared to AML with mutated NPM1 von Zhao, Davidson, Zarif, Mojgan, Eladl, Entsar, Capo-Chichi, José-Mario, Smith, Adam C., Atenafu, Eshetu G., Tierens, Anne, Minden, Mark D., Schuh, Andre, Chang, Hong

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Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia von Srour, Myriam, Chitayat, David, Caron, Véronique, Chassaing, Nicolas, Bitoun, Pierre, Patry, Lysanne, Cordier, Marie-Pierre, Capo-Chichi, José-Mario, Francannet, Christine, Calvas, Patrick, Ragge, Nicola, Dobrzeniecka, Sylvia, Hamdan, Fadi F., Rouleau, Guy A., Tremblay, André, Michaud, Jacques L.

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A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings von Sam, Jordan, Reble, Emma, Kodida, Rita, Shaw, Angela, Clausen, Marc, Salazar, Mariana Gutierrez, Shickh, Salma, Mighton, Chloe, Carroll, June C., Armel, Susan Randall, Aronson, Melyssa, Capo-Chichi, José-Mario, Cohn, Iris, Eisen, Andrea, Elser, Christine, Graham, Tracy, Ott, Karen, Panchal, Seema, Piccinin, Carolyn, Schrader, Kasmintan A., Kim, Raymond H., Lerner-Ellis, Jordan, Bombard, Yvonne

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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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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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Cardiovascular Disease Among Patients With AML and CHIP-Related Mutations von Calvillo-Argüelles, Oscar, Schoffel, Alice, Capo-Chichi, José-Mario, Abdel-Qadir, Husam, Schuh, Andre, Carrillo-Estrada, Montserrat, Liu, Shiying, Gupta, Vikas, Schimmer, Aaron D., Yee, Karen, Shlush, Liran I., Natarajan, Pradeep, Thavendiranathan, Paaladinesh

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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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Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies von Brue, Thierry, Quentien, Marie-Hélène, Khetchoumian, Konstantin, Bensa, Marco, Capo-Chichi, José-Mario, Delemer, Brigitte, Balsalobre, Aurelio, Nassif, Christina, Papadimitriou, Dimitris T, Pagnier, Anne, Hasselmann, Caroline, Patry, Lysanne, Schwartzentruber, Jeremy, Souchon, Pierre-François, Takayasu, Shinobu, Enjalbert, Alain, Van Vliet, Guy, Majewski, Jacek, Drouin, Jacques, Samuels, Mark E

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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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Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria von Capo-Chichi, José-Mario, Boissel, Sarah, Brustein, Edna, Pickles, Sarah, Fallet-Bianco, Catherine, Nassif, Christina, Patry, Lysanne, Dobrzeniecka, Sylvia, Liao, Meijiang, Labuda, Damian, Samuels, Mark E, Hamdan, Fadi F, Velde, Christine Vande, Rouleau, Guy A, Drapeau, Pierre, Michaud, Jacques L

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Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay von Capo-Chichi, José-Mario, Mehawej, Cybel, Delague, Valerie, Caillaud, Catherine, Khneisser, Issam, Hamdan, Fadi F, Michaud, Jacques L, Kibar, Zoha, Mégarbané, André

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