Sascha Vermeer

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 339 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

Janneke Schuurs-Hoeijmakers, Michael T. Geraghty, Erik‐Jan Kamsteeg et al. · The American Journal of Human Genetics · 2012 · 182 citations · Full text

Medicine, Genetics, Molecular Genetics +6

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Kornelia Neveling, Lilian A. Martinez-Carrera, Irmgard Hölker et al. · The American Journal of Human Genetics · 2013 · 177 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

David A. Koolen, Willy M. Nillesen, Martina H. A. Versteeg et al. · Journal of Medical Genetics · 2004 · 160 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17