Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency

por Champagne, Marjolaine, Horvath, Gabriella A., Perreault, Sébastien, Gauthier, Julie, Hyland, Keith, Soucy, Jean‐François, Mitchell, Grant A.
Publicado 2022

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

por Yang, Hao, Rossignol, Francis, Cyr, Denis, Laframboise, Rachel, Wang, Shu Pei, Soucy, Jean-François, Berthier, Marie-Thérèse, Giguère, Yves, Waters, Paula J., Mitchell, Grant A.
Publicado 2017

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 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 2015

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study

por Yazdani, Pouneh Amir, St-Jean, Marie-Lou, Matovic, Sara, Spahr, Aaron, Tran, Luan T., Boucher, Renée-Myriam, Poulin, Chantal, Osterman, Bradley, Srour, Myriam, Rosenblatt, Bernard, Chénier, Sébastien, Soucy, Jean-Francois, Laberge, Anne-Marie, D’Agostino, Maria Daniela, Nguyen, Cam-Tu Emilie, Morsa, Maxime, Bernard, Geneviève
Publicado 2023

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

por Kreienkamp, Hans-Jürgen, Wagner, Matias, Weigand, Heike, McConkie-Rossell, Allyn, McDonald, Marie, Keren, Boris, Mignot, Cyril, Gauthier, Julie, Soucy, Jean-François, Michaud, Jacques L., Dumas, Meghan, Smith, Rosemarie, Löbel, Ulrike, Hempel, Maja, Kubisch, Christian, Denecke, Jonas, Campeau, Philippe M., Bain, Jennifer M., Lessel, Davor
Publicado 2021