OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

Por Schilter, Kala, Schneider, Adele, Bardakjian, Tanya, Soucy, Jean-François, Tyler, Rebecca C., Reis, Linda M., Semina, Elena V.
Publicado em 2011

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

Por Mook, Olaf R F, Haagmans, Martin A, Soucy, Jean-François, van de Meerakker, Judith B A, Baas, Frank, Jakobs, Marja E, Hofman, Nynke, Christiaans, Imke, Lekanne Deprez, Ronald H, Mannens, Marcel M A M
Publicado em 2013

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

Por Gauthier, Julie, Ouled Amar Bencheikh, Bouchra, Hamdan, Fadi F, Harrison, Steven M, Baker, Linda A, Couture, Françoise, Thiffault, Isabelle, Ouazzani, Reda, Samuels, Mark E, Mitchell, Grant A, Rouleau, Guy A, Michaud, Jacques L, Soucy, Jean- François
Publicado no Eur J Hum Genet (2015)

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

Por Srour, Myriam, Hamdan, Fadi F., McKnight, Dianalee, Davis, Erica, Mandel, Hanna, Schwartzentruber, Jeremy, Martin, Brissa, Patry, Lysanne, Nassif, Christina, Dionne-Laporte, Alexandre, Ospina, Luis H., Lemyre, Emmanuelle, Massicotte, Christine, Laframboise, Rachel, Maranda, Bruno, Labuda, Damian, Décarie, Jean-Claude, Rypens, Françoise, Goldsher, Dorith, Fallet-Bianco, Catherine, Soucy, Jean-François, Laberge, Anne-Marie, Maftei, Catalina, Boycott, Kym, Brais, Bernard, Boucher, Renée-Myriam, Rouleau, Guy A., Katsanis, Nicholas, Majewski, Jacek, Elpeleg, Orly, Kukolich, Mary K., Shalev, Stavit, Michaud, Jacques L.
Publicado no Am J Hum Genet (2015)