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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.
Int J Mol Sci. 2022 Jun 18;23(12):6792. doi: 10.3390/ijms23126792.
Int J Mol Sci. 2022.
PMID: 35743235
Free PMC article.
Review.
A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.
Pal M, Lace B, Labrie Y, Laflamme N, Rioux N, Setty ST, Dugas MA, Gosselin L, Droit A, Chrestian N, Rivest S.
Pal M, et al. Among authors: setty st.
JIMD Rep. 2021 Feb 23;59(1):32-41. doi: 10.1002/jmd2.12196. eCollection 2021 May.
JIMD Rep. 2021.
PMID: 33977028
Free PMC article.
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Case Report: Two Families With HPDL Related Neurodegeneration.
Micule I, Lace B, Wright NT, Chrestian N, Strautmanis J, Diriks M, Stavusis J, Kidere D, Kleina E, Zdanovica A, Laflamme N, Rioux N, Setty ST, Pajusalu S, Droit A, Lek M, Rivest S, Inashkina I.
Micule I, et al. Among authors: setty st.
Front Genet. 2022 Feb 9;13:780764. doi: 10.3389/fgene.2022.780764. eCollection 2022.
Front Genet. 2022.
PMID: 35222531
Free PMC article.
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SRSF3 and SRSF7 modulate 3'UTR length through suppression or activation of proximal polyadenylation sites and regulation of CFIm levels.
Schwich OD, Blümel N, Keller M, Wegener M, Setty ST, Brunstein ME, Poser I, Mozos IRL, Suess B, Münch C, McNicoll F, Zarnack K, Müller-McNicoll M.
Schwich OD, et al. Among authors: setty st.
Genome Biol. 2021 Mar 11;22(1):82. doi: 10.1186/s13059-021-02298-y.
Genome Biol. 2021.
PMID: 33706811
Free PMC article.
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Decoding a cancer-relevant splicing decision in the RON proto-oncogene using high-throughput mutagenesis.
Braun S, Enculescu M, Setty ST, Cortés-López M, de Almeida BP, Sutandy FXR, Schulz L, Busch A, Seiler M, Ebersberger S, Barbosa-Morais NL, Legewie S, König J, Zarnack K.
Braun S, et al. Among authors: setty st.
Nat Commun. 2018 Aug 17;9(1):3315. doi: 10.1038/s41467-018-05748-7.
Nat Commun. 2018.
PMID: 30120239
Free PMC article.
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