A Novel Variant in Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report

by Alexa Derksen MSc, Amytice Mirchi MD, Luan T. Tran MSc, Lei Cao-Lei PhD, MSc, Maryam Oskoui MD, Myriam Srour MD, Chantal Poulin MD, Geneviève Bernard MD, MSc, FRCPc
Published 2021-07-01

Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease

by Alexa Derksen, Hung-Yu Shih, Diane Forget, Lama Darbelli, Luan T. Tran, Christian Poitras, Kether Guerrero, Sundaresan Tharun, Fowzan S. Alkuraya, Wesam I. Kurdi, Cam-Tu Emilie Nguyen, Anne-Marie Laberge, Yue Si, Marie-Soleil Gauthier, Joshua L. Bonkowsky, Benoit Coulombe, Geneviève Bernard
Published 2021-07-01

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

by Youmna Ghaleb, Sandy Elbitar, Anne Philippi, Petra El Khoury, Yara Azar, Miangaly Andrianirina, Alexia Loste, Yara Abou-Khalil, Gaël Nicolas, Marie Le Borgne, Philippe Moulin, Mathilde Di-Filippo, Sybil Charrière, Michel Farnier, Cécile Yelnick, Valérie Carreau, Jean Ferrières, Jean-Michel Lecerf, Alexa Derksen, Geneviève Bernard, Marie-Soleil Gauthier, Benoit Coulombe, Dieter Lütjohann, Bertrand Fin, Anne Boland, Robert Olaso, Jean-François Deleuze, Jean-Pierre Rabès, Catherine Boileau, Marianne Abifadel, Mathilde Varret
Published 2022-03-01