Heterogenous loss of mismatch repair (MMR) protein expression: a challenge for immunohistochemical interpretation and microsatellite instability (MSI) evaluation

le McCarthy, Aoife J, Capo‐Chichi, Jose‐Mario, Spence, Tara, Grenier, Sylvie, Stockley, Tracy, Kamel‐Reid, Suzanne, Serra, Stefano, Sabatini, Peter, Chetty, Runjan
Foilsithe in J Pathol Clin Res (2018)

The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

le 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
Foilsithe 2014

Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome

le Capo-Chichi, José-Mario, Kumar Bharti, Sanjay, Sommers, Joshua A., Yammine, Tony, Chouery, Eliane, Patry, Lysanne, Rouleau, Guy A., Samuels, Mark E., Hamdan, Fadi F., Michaud, Jacques L., Brosh, Robert M., Mégarbane, André, Kibar, Zoha
Foilsithe in Hum Mutat (2012)

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

le 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.
Foilsithe 2013

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

le 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.
Foilsithe 2013

Genetic factors rather than blast reduction determine outcomes of allogeneic HCT in BCR-ABL–negative MPN in blast phase

le Gupta, Vikas, Kennedy, James A., Capo-Chichi, Jose-Mario, Kim, Soyoung, Hu, Zhen-Huan, Alyea, Edwin P., Popat, Uday R., Sobecks, Ronald M., Scott, Bart L., Gerds, Aaron T., Salit, Rachel B., Deeg, H. Joachim, Nakamura, Ryotara, Saber, Wael
Foilsithe in Blood Adv (2020)

De Novo Mutations in Moderate or Severe Intellectual Disability

le 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.
Foilsithe 2014

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

le 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
Foilsithe in BMC Med Genet (2014)

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

le 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.
Foilsithe 2012

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

le Perrault, Isabelle, Hamdan, Fadi F., Rio, Marlène, Capo-Chichi, José-Mario, Boddaert, Nathalie, Décarie, Jean-Claude, Maranda, Bruno, Nabbout, Rima, Sylvain, Michel, Lortie, Anne, Roux, Philippe P., Rossignol, Elsa, Gérard, Xavier, Barcia, Giulia, Berquin, Patrick, Munnich, Arnold, Rouleau, Guy A., Kaplan, Josseline, Rozet, Jean-Michel, Michaud, Jacques L.
Foilsithe 2014

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

le Ruzzo, Elizabeth K., Capo-Chichi, José-Mario, Ben-Zeev, Bruria, Chitayat, David, Mao, Hanqian, Pappas, Andrea L., Hitomi, Yuki, Lu, Yi-Fan, Yao, Xiaodi, Hamdan, Fadi F., Pelak, Kimberly, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Oz-Levi, Danit, Lev, Dorit, Lerman-Sagie, Tally, Leshinsky-Silver, Esther, Anikster, Yair, Ben-Asher, Edna, Olender, Tsviya, Colleaux, Laurence, Décarie, Jean-Claude, Blaser, Susan, Banwell, Brenda, Joshi, Rasesh B., He, Xiao-Ping, Patry, Lysanne, Silver, Rachel J., Dobrzeniecka, Sylvia, Islam, Mohammad S., Hasnat, Abul, Samuels, Mark E., Aryal, Dipendra K., Rodriguiz, Ramona M., Jiang, Yong-hui, Wetsel, William C., McNamara, James O., Rouleau, Guy A., Silver, Debra L., Lancet, Doron, Pras, Elon, Mitchell, Grant A., Michaud, Jacques L., Goldstein, David B.
Foilsithe 2013