Pleuntje J. van der Sluijs

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 149 citations · Full text

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 127 citations · Full text

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Michael A. Levy, Raissa Relator, Haley McConkey et al. · Human Mutation · 2022 · 76 citations · Full text

Epigenetic Change, Genetics, Dna Methylation +17

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders

Alfredo M. Valencia, Akshay Sankar, Pleuntje J. van der Sluijs et al. · Nature Genetics · 2023 · 67 citations · Full text

Brain Development, Genetics, Molecular Biology +21

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen et al. · Nature Genetics · 2023 · 67 citations · Full text

Phenotypic Variation, Engineering, Machine-learning Framework +12