New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches

por Setty, Samarth Thonta, Scott-Boyer, Marie-Pier, Cuppens, Tania, Droit, Arnaud
Publicado 2022

A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy

por Laflamme, Nathalie, Lace, Baiba, Thonta Setty, Samarth, Rioux, Nadie, Labrie, Yvan, Droit, Arnaud, Chrestian, Nicolas, Rivest, Serge
Publicado 2021

A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy

por Pal, Maitou, Lace, Baiba, Labrie, Yvan, Laflamme, Nathalie, Rioux, Nadie, Setty, Samarth Thonta, Dugas, Marc‐Andre, Gosselin, Louise, Droit, Arnaud, Chrestian, Nicolas, Rivest, Serge
Publicado 2021

Decoding a cancer-relevant splicing decision in the RON proto-oncogene using high-throughput mutagenesis

por Braun, Simon, Enculescu, Mihaela, Setty, Samarth T., Cortés-López, Mariela, de Almeida, Bernardo P., Sutandy, F. X.  Reymond, Schulz, Laura, Busch, Anke, Seiler, Markus, Ebersberger, Stefanie, Barbosa-Morais, Nuno L., Legewie, Stefan, König, Julian, Zarnack, Kathi
Publicado 2018

SRSF3 and SRSF7 modulate 3′UTR length through suppression or activation of proximal polyadenylation sites and regulation of CFIm levels

por Schwich, Oliver Daniel, Blümel, Nicole, Keller, Mario, Wegener, Marius, Setty, Samarth Thonta, Brunstein, Melinda Elaine, Poser, Ina, Mozos, Igor Ruiz De Los, Suess, Beatrix, Münch, Christian, McNicoll, François, Zarnack, Kathi, Müller-McNicoll, Michaela
Publicado 2021

Case Report: Two Families With HPDL Related Neurodegeneration

por Micule, Ieva, Lace, Baiba, Wright, Nathan T., Chrestian, Nicolas, Strautmanis, Jurgis, Diriks, Mikus, Stavusis, Janis, Kidere, Dita, Kleina, Elfa, Zdanovica, Anna, Laflamme, Nataly, Rioux, Nadie, Setty, Samarth Thonta, Pajusalu, Sander, Droit, Arnaud, Lek, Monkol, Rivest, Serge, Inashkina, Inna
Publicado 2022

Recurrent chromosomal translocations in sarcomas create a megacomplex that mislocalizes NuA4/TIP60 to Polycomb target loci

por Sudarshan, Deepthi, Avvakumov, Nikita, Lalonde, Marie-Eve, Alerasool, Nader, Joly-Beauparlant, Charles, Jacquet, Karine, Mameri, Amel, Lambert, Jean-Philippe, Rousseau, Justine, Lachance, Catherine, Paquet, Eric, Herrmann, Lara, Thonta Setty, Samarth, Loehr, Jeremy, Bernardini, Marcus Q., Rouzbahman, Marjan, Gingras, Anne-Claude, Coulombe, Benoit, Droit, Arnaud, Taipale, Mikko, Doyon, Yannick, Côté, Jacques
Publicado 2022