Bart van der Sanden

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany et al. · European Journal of Human Genetics · 2022 · 87 citations · Full text

Genetic Epidemiology, Diagnosis, Disease Gene Identification +21

Long-read trio sequencing of individuals with unsolved intellectual disability

Marc Pauper, Erdi Küçük, Aaron M. Wenger et al. · European Journal of Human Genetics · 2020 · 55 citations · Full text

Comprehensive de novo mutation discovery with HiFi long-read sequencing

Erdi Küçük, Bart van der Sanden, Luke O’Gorman et al. · Genome Medicine · 2023 · 51 citations · Full text

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

Bart van der Sanden, Jordi Corominas, Michelle de Groot et al. · Genetics in Medicine · 2021 · 43 citations

Functional Genomics, Mendelian Disorder, Genetic Disorder +10

DeNovoCNN: a deep learning approach to <i>de novo</i> variant calling in next generation sequencing data

Gelana Khazeeva, Karolis Šablauskas, Bart van der Sanden et al. · Nucleic Acids Research · 2022 · 27 citations · Full text