Maartje van de Vorst

Genome sequencing identifies major causes of severe intellectual disability

Christian Gilissen, Jayne Y. Hehir‐Kwa, Djie Tjwan Thung et al. · Nature · 2014 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Cyril Pottier, Kevin F. Bieniek, Ni Cole A. Finch et al. · Acta Neuropathologica · 2015 · 314 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life

Rocío Acuña‐Hidalgo, Hilal Sengül, Marloes Steehouwer et al. · The American Journal of Human Genetics · 2017 · 270 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

Rocío Acuña‐Hidalgo, Tan Bo, Michael Kwint et al. · The American Journal of Human Genetics · 2015 · 260 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Next‐generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Karlien L. M. Coene, Leo A. J. Kluijtmans, E. van der Heeft et al. · Journal of Inherited Metabolic Disease · 2018 · 204 citations · Full text

Life Sciences, Molecular Medicine, Mass Spectrometric Analysis +16