Marjolein Kriek

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly A.F. Stessman, Bo Xiong, Bradley P. Coe et al. · Nature Genetics · 2017 · 558 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetics +13

A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study

Jesse J. Swen, Cathelijne H. van der Wouden, Lisanne E. N. Manson et al. · The Lancet · 2023 · 462 citations · Full text

Drug Safety, Adverse Drug Reactions, Pharmacoepidemiology +9

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Clare V. Logan, György Szabadkai, Jenny A. Sharpe et al. · Nature Genetics · 2013 · 365 citations

Mitochondrial Myopathy, Mitochondrial Calcium, Muscle Disorder +11

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Gijs W.E. Santen, Emmelien Aten, Yu Sun et al. · Nature Genetics · 2012 · 348 citations · Full text

Chromatin, Genome Instability, Swi/snf Chromatin +10

Implementing Pharmacogenomics in Europe: Design and Implementation Strategy of the Ubiquitous Pharmacogenomics Consortium

Cathelijne H. van der Wouden, Anne Cambon‐Thomsen, Erika Cecchin et al. · Clinical Pharmacology & Therapeutics · 2016 · 288 citations · Full text

Relevant Pgx-markers, Genetic Epidemiology, Ubiquitous Pharmacogenomics +22