Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction

Rescue of a FVIII splicing variant with engineered U1snRNAs

Base and Prime editing of DNA as a new therapeutic option for Hemophilia A

Rescue of a hemophilia A-causing FVIII splicing variant via engineered U1SNRNAS

New Genome Editing Approaches: Base And Prime Editing To Revert Hemophilia A-Causing Point Mutations

Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution

The Asialoglycoprotein Receptor Minor Subunit Gene Contributes to Pharmacokinetics of Factor VIII Concentrates in Hemophilia A

Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function

Deep molecular mechanisms of F8 exon 19 variants and translational approaches in Hemophilia A

An advanced method for the small-scale production of high-quality minicircle DNA

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies

The F7 p.Val22Ile missense mutation affects splicing and can be counteracted by a compensatory U1snRNA

Contribution of asialoglycoprotein receptor ASGR2 5’ UTR polymorphisms to full-length FVIII concentrate pharmacokinetics

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I

An exon-specific small nuclear u1 rna (Exspeu1) improves hepatic otc expression in a splicing-defective spf /ash mouse model of ornithine transcarbamylase deficiency

The asialoglycoprotein receptor ASGR2 5’ UTR polymorphisms influence several parameters of full-length FVIII concentrate pharmacokinetics

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency

Rescue of multiple Haemophilia A-causing mutations by a single ExSpeU1: the importance of the genomic context

Exon-Specific U1snRNA-Mediated Rescue of Splicing and Missense Changes in Hemophilia A