Dorien Lugtenberg

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius et al. · The American Journal of Human Genetics · 2005 · 627 citations · Full text

Life Sciences, Neurology, Neuroscience +14

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Kornelia Neveling, Ilse Feenstra, Christian Gilissen et al. · Human Mutation · 2013 · 339 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Rolph Pfundt, Marisol del Rosario, Lisenka E.L.M. Vissers et al. · Genetics in Medicine · 2016 · 199 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in <i>DYNC1H1</i> cause severe intellectual disability with neuronal migration defects

Marjolein H. Willemsen, Lisenka E.L.M. Vissers, Michèl A.A.P. Willemsen et al. · Journal of Medical Genetics · 2012 · 182 citations

Life Sciences, Genetics, Neuroscience +17

<i>ABCA4</i>midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

Riccardo Sangermano, Mubeen Khan, Stéphanie S. Cornelis et al. · Genome Research · 2017 · 175 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17