Mariette J. V. Hoffer

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Hui Guo, Elisa Bettella, Paul C. Marcogliese et al. · Nature Communications · 2019 · 62 citations · Full text

Life Sciences, Genetics, Neuroscience +17

<i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes

Maureen Mulhern, Constance T. R. M. Stumpel, Nicholas Stong et al. · Annals of Neurology · 2018 · 57 citations · Full text

Life Sciences, Genetics, Neuroscience +17

The Mouse Low-Density Lipoprotein Receptor Gene: cDNA Sequence and Exon-Intron Structure

Mariette J. V. Hoffer, M.M. Vaneck, Fred Petrij et al. · Biochemical and Biophysical Research Communications · 1993 · 35 citations

Medicine, Genetics, Molecular Genetics +13

The Jumping SHOX Gene—Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis

Sarina G. Kant, H.J. van der Kamp, Marjolein Kriek et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 16 citations

Life Sciences, Genetics, Molecular Genetics +16

A 400 kb duplication, 2.4 Mb triplication and 130 kb duplication of 9q34.3 in a patient with severe mental retardation

Antoinet C.J. Gijsbers, Emilia K. Bijlsma, Marjan M. Weiss et al. · European Journal of Medical Genetics · 2008 · 12 citations

Life Sciences, Genetics, Molecular Genetics +10