Scheffer, Hans

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 1,546

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Robak, L. A., Jansen, I. E., van Rooij, J., Uitterlinden, A. G., Kraaij, R., Jankovic, J., Heutink, P., Shulman, J. M., International Parkinson’s Disease Genomics Consortium (IPDGC), Nalls, M. A., et al. (2017) · Brain

Lysosomal Storage Disorders ResearchParkinson's Disease Mechanisms and Treatments

Cited by 433

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., et al. (2012) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 232

Association of the dopamine transporter (SLC6A3/DAT1) gene 9–6 haplotype with adult ADHD

Franke, B., Hoogman, M., Arias Vasquez, A., Heister, J. G. A. M., Savelkoul, P. J., Naber, M., Scheffer, H., Kiemeney, L. A., Kan, C. C., Kooij, J. J. S., et al. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics

Attention Deficit Hyperactivity DisorderNeurotransmitter Receptor Influence on Behavior

Cited by 77

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Vissers, L. E., Bonetti, M., Paardekooper Overman, J., Nillesen, W. M., Frints, S. G. M., de Ligt, J., Zampino, G., Justino, A., Machado, J. C., Schepens, M., et al. (2015) · European Journal of Human Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 75

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon‐ectodermal defects‐cleft lip/palate syndrome (AEC)

Rinne, T., Bolat, E., Meijer, R., Scheffer, H., & van Bokhoven, H. (2009) · American Journal of Medical Genetics Part A

dental development and anomaliesCleft Lip and Palate Research

Cited by 60

Molecular evidence that AEC syndrome and Rapp–Hodgkin syndrome are variable expression of a single genetic disorder

Bertola, D., Kim, C., Albano, L., Scheffer, H., Meijer, R., & Van Bokhoven, H. (2004) · Clinical Genetics

Genomics and Rare DiseasesImmunodeficiency and Autoimmune Disorders

Cited by 60