Bart van Lier

A de novo paradigm for mental retardation

Lisenka E.L.M. Vissers, Joep de Ligt, Christian Gilissen et al. · Nature Genetics · 2010 · 854 citations

Social Sciences, Psychiatry, Psychology +12

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen, Bregje W.M. van Bon, Christian Gilissen et al. · Nature Genetics · 2010 · 507 citations

Life Sciences, Genetics, Molecular Genetics +7

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Christian Gilissen, Heleen H. Arts, Alexander Hoischen et al. · The American Journal of Human Genetics · 2010 · 279 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Alexander Hoischen, Bregje W.M. van Bon, Benjamín Rodríguez‐Santiago et al. · Nature Genetics · 2011 · 277 citations

Life Sciences, Genetics, Molecular Genetics +3

<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer et al. · Clinical Genetics · 2013 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17