Klaske D. Lichtenbelt

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

Xonia Carvajal‐Vergara, Ana Sevilla, Sunita L. D’Souza et al. · Nature · 2010 · 695 citations · Full text

Life Sciences, Cell Biology, Developmental Biology +12

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Karuna R. M. van der Meij, Erik A. Sistermans, Merryn Macville et al. · The American Journal of Human Genetics · 2019 · 374 citations · Full text

Medicine, Maternal Health, Obstetrics +17

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2011 · 246 citations · Full text

Medicine, Genetics, Molecular Genetics +17

<i>PLS3</i> Mutations in X-Linked Osteoporosis with Fractures

Fleur S. van Dijk, M. Carola Zillikens, Dimitra Micha et al. · New England Journal of Medicine · 2013 · 200 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

Baran Bayindir, Luc Dehaspe, Nathalie Brison et al. · European Journal of Human Genetics · 2015 · 170 citations

Medicine, Genetics, Obstetrics +17