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Frontiers in Pediatrics|October 25, 2021
Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder PerspectiveTessa van Dijk, Adriana Kater, Marleen Jansen, et al.
Hormone Research in Paediatrics|October 27, 2021
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1Joel Riquelme, Sanami Takada, Tessa van Dijk, et al.
European Urology Oncology|June 4, 2026
Improved Shared Decision-making for Patients with Renal Cell Carcinoma: Results of the SDM-RCC StudyCato C Bresser, Mirjam M Garvelink, Tessa van Dijk, et al.
Case Reports in Genetics|November 21, 2015
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1Jessie C Jacobsen, Emma Glamuzina, Juliet Taylor, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposisTessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, et al.
Plos One|August 18, 2022
Parents' views on accepting, declining, and expanding newborn bloodspot screeningSylvia M van der Pal, Sophie Wins, Jasmijn E Klapwijk, et al.
Neuron|November 20, 2018
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical MalformationsRatna Tripathy, Ines Leca, Tessa van Dijk, et al.
HGG Advances|September 24, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction toolsMark Drost, Jordy Dekker, Federico Ferraro, et al.
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