Arjan Bouman

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe et al. · Genetics in Medicine · 2019 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella et al. · Genetics in Medicine · 2020 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Theodore G. Drivas, Dong Li, Divya Nair et al. · European Journal of Human Genetics · 2020 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

Clinical delineation of a patient with trisomy 12q23q24

Arjan Bouman, Anke Schuitema, Rolph Pfundt et al. · European Journal of Medical Genetics · 2013 · 45 citations

Life Sciences, Genetics, Molecular Genetics +11

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

Annechien E. G. Haarman, Alberta A. H. J. Thiadens, Marianne van Tienhoven et al. · Human Molecular Genetics · 2022 · 42 citations · Full text

Medicine, Genetics, Ophthalmology +17