Marie-José H. van den Boogaard

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 244 citations

Life Sciences, Genetics, Molecular Genetics +10

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok et al. · Human Mutation · 2010 · 147 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati et al. · Brain · 2017 · 44 citations · Full text

Life Sciences, Genetics, Neurology +17

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Kriti D. Khandelwal, Marie-José H. van den Boogaard, Sarah L. Mehrem et al. · European Journal of Human Genetics · 2019 · 23 citations · Full text

Dentistry, Molecular Genetics, Oral Pathology +13