Author
Leiden University Medical CenterORCID 0000-0003-1607-0428Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Ella F. Whittle, Kylie Montgomery, Carme Camps…·Mina Ryten
The paper presents a framework for prioritizing targets and patients for antisense oligonucleotide therapies in rare diseases, focusing on equitable and systematic decision-making.
David Cheerie, Marlen C. Lauffer, Logan Newton…·Evgueni A. Ivakine
The paper estimates the proportion of genetic diagnoses in a pediatric cohort that are amenable to antisense oligonucleotide therapy, finding 4.9% eligible or likely eligible.
David Cheerie, Margaret M. Meserve, Danique Beijer…·Marlen C. Lauffer
The paper presents consensus guidelines for assessing pathogenic variants' eligibility for antisense oligonucleotide treatments, including classification criteria and considerations for different therapeutic approaches.
Redmar R. van den Berg, Marlen C. Lauffer, Jeroen F. J. Laros
ExonViz creates biologically accurate transcript figures with genetic variants and is available online and as a Python package.