Area of research
Genetics · Molecular Biology
Research interest
Research interests include DNA Repair Mechanisms, BRCA gene mutations in cancer, Genomics and Rare Diseases, and Cancer Immunotherapy and Biomarkers.
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases.
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.
Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.
Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian.
Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
Whole-genome sequencing of patients with rare diseases in a national health system.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Variants in the SK2 channel gene (<i>KCNN2</i>) lead to dominant neurodevelopmental movement disorders
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Clonality, Antigen Recognition, and Suppression of CD8<sup>+</sup> T Cells Differentially Affect Prognosis of Breast Cancer Subtypes.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74.
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophy
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures