Martina Ruiterkamp‐Versteeg

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

Ellen A. Croonen, Willy M. Nillesen, Kyra E. Stuurman et al. · European Journal of Human Genetics · 2013 · 145 citations

Medicine, Genetics, Obstetrics +16

A natural history study of late onset spinal muscular atrophy types 3b and 4

Sanne Piepers, Leonard H. van den Berg, F. Brugman et al. · Journal of Neurology · 2008 · 136 citations

Medicine, Neurology, Neuroscience +9

<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

Mutations in MED12 Cause X-Linked Ohdo Syndrome

Anneke T. Vulto‐van Silfhout, Bert de Vries, Bregje W.M. van Bon et al. · The American Journal of Human Genetics · 2013 · 97 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany et al. · European Journal of Human Genetics · 2022 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17