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	Title	Authors / Editors	Date
unige:124450	Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations	Pellagatti, Andrea; Armstrong, Richard N; Steeples, Violetta; Sharma, Eshita; ... Boultwood, Jacqueline	2018
unige:90258	Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans	GTEx Consortium	2015
unige:90270	Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31	Villanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; ... Davis, Erica E	2014
unige:42242	Assessment of transcript reconstruction methods for RNA-seq	Steijger, Tamara; Abril, Josep F; Engström, Pär G; Kokocinski, Felix; ... Antonarakis, Stylianos	2013
unige:20665	Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'	Vorjohann, Silja; Fish, Richard; Biron-Andreani, Christine; Nagaswami, Chandrasekaran; ... Neerman Arbez, Marguerite	2010
unige:759	Synaptotagmin VII splice variants alpha, beta, and delta are expressed in pancreatic beta-cells and regulate insulin exocytosis	Gauthier, Benoît; Duhamel, Dominique L.; Iezzi, Mariella; Theander, Sten; ... Wollheim, Claes	2008
unige:9059	The implications of alternative splicing in the ENCODE protein complement	Antonarakis, Stylianos; Reymond, Alexandre	2007
unige:17490	Alu elements as regulators of gene expression	Hasler, Julien; Strub, Katharina	2006
unige:8814	DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects	Hornef, Nada; Olbrich, Heike; Horvath, Judit; Zariwala, M. A.; ... Omran, Heymut	2006
unige:8924	Molecular basis of fibrinogen deficiency	Neerman Arbez, Marguerite	2006
unige:17541	Human splicing factor SF3a, but not SF1, is essential for pre-mRNA splicing in vivo	Tanackovic Abbas-Terki, Goranka; Kraemer, Angela	2005
unige:17550	Structure-function analysis of the U2 snRNP-associated splicing factor SF3a	Kraemer, Angela; Ferfoglia, Fabio; Huang, Ching-Jung; Mulhaupt, Flore; ... Tanackovic Abbas-Terki, Goranka	2005
unige:7213	Cellular viral rebound after cessation of potent antiretroviral therapy predicted by levels of multiply spliced HIV-1 RNA encoding nef	Fischer, Marek; Joos, Beda; Hirschel, Bernard; Bleiber, Gabriela; ... Gunthard, Huldrych	2004
unige:8932	Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells	Neerman Arbez, Marguerite; Germanos-Haddad, Myrna; Tzanidakis, Konstantinos; Vu, Dung; ... De Moerloose, Philippe	2004
unige:8618	Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA)	Attanasio, Catia; David, Armelle; Neerman Arbez, Marguerite	2003
unige:19380	mRNA export: travelling with DEAD box proteins	Linder, Patrick; Stutz, Françoise	2001
unige:26601	Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia	Savioz, Armand; Kovari, Eniko Veronika; Anastasiu, R; Rossier, Colette; ... Leuba, G	2000
unige:17546	Conservation of functional domains involved in RNA binding and protein-protein interactions in human and Saccharomyces cerevisiae pre-mRNA splicing factor SF1	Rain, J C; Rafi, Zahra; Rhani, Zakaria; Legrain, P; Kraemer, Angela	1998
unige:74566	Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals	Ries, S; Büchler, C; Schindler, G; Aslanidis, C; ... Schmitz, G	1998
unige:26605	Expression of leptin receptor mRNA (long form splice variant) in the human cerebellum	Savioz, Armand; Charnay, Yves; Huguenin, C; Graviou, Christelle; ... Bouras, Constantin	1997

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