Exon Definition Facilitates Reliable Control of Alternative Splicing in the RON Proto-Oncogene von Enculescu, Mihaela, Braun, Simon, Thonta Setty, Samarth, Busch, Anke, Zarnack, Kathi, König, Julian, Legewie, Stefan

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New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches von Setty, Samarth Thonta, Scott-Boyer, Marie-Pier, Cuppens, Tania, Droit, Arnaud

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SRSF3 and SRSF7 modulate 3 ' UTR length through suppression or activation of proximal polyadenylation sites and regulation of CFIm levels von Schwich, Oliver Daniel, Bluemel, Nicole, Keller, Mario, Wegener, Marius, Setty, Samarth Thonta, Brunstein, Melinda Elaine, Poser, Ina, De Los Mozos, Igor Ruiz, Suess, Beatrix, Munch, Christian, McNicoll, Francois, Zarnack, Kathi, Mueller-McNicoll, Michaela

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

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A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy von Laflamme, Nathalie, Lace, Baiba, Thonta Setty, Samarth, Rioux, Nadie, Labrie, Yvan, Droit, Arnaud, Chrestian, Nicolas, Rivest, Serge

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Case Report: Two Families With HPDL Related Neurodegeneration von 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

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A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy von Pal, Maitou, Lace, Baiba, Labrie, Yvan, Laflamme, Nathalie, Rioux, Nadie, Setty, Samarth Thonta, Dugas, Marc‐Andre, Gosselin, Louise, Droit, Arnaud, Chrestian, Nicolas, Rivest, Serge

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

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Case Report: Two Families With HPDL Related Neurodegeneration von 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

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Additional file 8 of SRSF3 and SRSF7 modulate 3′UTR length through suppression or activation of proximal polyadenylation sites and regulation of CFIm levels von Schwich, Oliver Daniel, Blümel, Nicole, Keller, Mario, Wegener, Marius, Samarth Thonta Setty, Brunstein, Melinda Elaine, Poser, Ina, Mozos, Igor Ruiz De Los, Suess, Beatrix, Münch, Christian, McNicoll, François, Zarnack, Kathi, Müller-McNicoll, Michaela

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Additional file 7 of SRSF3 and SRSF7 modulate 3′UTR length through suppression or activation of proximal polyadenylation sites and regulation of CFIm levels von Schwich, Oliver Daniel, Blümel, Nicole, Keller, Mario, Wegener, Marius, Samarth Thonta Setty, Brunstein, Melinda Elaine, Poser, Ina, Mozos, Igor Ruiz De Los, Suess, Beatrix, Münch, Christian, McNicoll, François, Zarnack, Kathi, Müller-McNicoll, Michaela

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Additional file 4 of SRSF3 and SRSF7 modulate 3′UTR length through suppression or activation of proximal polyadenylation sites and regulation of CFIm levels von Schwich, Oliver Daniel, Blümel, Nicole, Keller, Mario, Wegener, Marius, Samarth Thonta Setty, Brunstein, Melinda Elaine, Poser, Ina, Mozos, Igor Ruiz De Los, Suess, Beatrix, Münch, Christian, McNicoll, François, Zarnack, Kathi, Müller-McNicoll, Michaela

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Additional file 2 of SRSF3 and SRSF7 modulate 3′UTR length through suppression or activation of proximal polyadenylation sites and regulation of CFIm levels von Schwich, Oliver Daniel, Blümel, Nicole, Keller, Mario, Wegener, Marius, Samarth Thonta Setty, Brunstein, Melinda Elaine, Poser, Ina, Mozos, Igor Ruiz De Los, Suess, Beatrix, Münch, Christian, McNicoll, François, Zarnack, Kathi, Müller-McNicoll, Michaela

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Additional file 5 of SRSF3 and SRSF7 modulate 3′UTR length through suppression or activation of proximal polyadenylation sites and regulation of CFIm levels von Schwich, Oliver Daniel, Blümel, Nicole, Keller, Mario, Wegener, Marius, Samarth Thonta Setty, Brunstein, Melinda Elaine, Poser, Ina, Mozos, Igor Ruiz De Los, Suess, Beatrix, Münch, Christian, McNicoll, François, Zarnack, Kathi, Müller-McNicoll, Michaela

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Additional file 6 of SRSF3 and SRSF7 modulate 3′UTR length through suppression or activation of proximal polyadenylation sites and regulation of CFIm levels von Schwich, Oliver Daniel, Blümel, Nicole, Keller, Mario, Wegener, Marius, Samarth Thonta Setty, Brunstein, Melinda Elaine, Poser, Ina, Mozos, Igor Ruiz De Los, Suess, Beatrix, Münch, Christian, McNicoll, François, Zarnack, Kathi, Müller-McNicoll, Michaela

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Additional file 3 of SRSF3 and SRSF7 modulate 3′UTR length through suppression or activation of proximal polyadenylation sites and regulation of CFIm levels von Schwich, Oliver Daniel, Blümel, Nicole, Keller, Mario, Wegener, Marius, Samarth Thonta Setty, Brunstein, Melinda Elaine, Poser, Ina, Mozos, Igor Ruiz De Los, Suess, Beatrix, Münch, Christian, McNicoll, François, Zarnack, Kathi, Müller-McNicoll, Michaela

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