Jasper J Saris

5PUBLICATIONS
16CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Isotope geochemistryNeonatology
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Publications (5)

|Apr 14, 2025
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.

Hannie Douben, Marianne Hoogeveen-Westerveld, Mark Nellist

|May 24, 2022
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

Marcello Scala, Nathalie Drouot, Suzanna C MacLennan

|Feb 10, 2019
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Ineke Labrijn-Marks, Galhana M Somers-Bolman, Stijn L M In 't Groen

|Oct 20, 2018
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Monique Williams, Alberto Burlina, Laura Rubert

|Jun 23, 2016
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Rachel C Wiltink, Michelle E Kruijshaar, Rick van Minkelen

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Frequent Collaborators

1 joint publications

Ljubica Caldovic

1 joint publications

Marcello Scala

1 joint publications

Suzanna C MacLennan

1 joint publications

Magdalena Krygier