Poot, Martin

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 804

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Leblond, C. S., Heinrich, J., Delorme, R., Proepper, C., Betancur, C., Huguet, G., Konyukh, M., Chaste, P., Ey, E., Rastam, M., et al. (2012) · PLoS Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 429

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder

Poot, M., Beyer, V., Schwaab, I., Damatova, N., van’t Slot, R., Prothero, J., Holder, S. E., & Haaf, T. (2010) · neurogenetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 137

A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.

van der Zwaag, B., Staal, W. G., Hochstenbach, R., Poot, M., Spierenburg, H. A., de Jonge, M. V., Verbeek, N. E., van 't Slot, R., van Es, M. A., Staal, F. J., et al. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 108

Common variant at 16p11.2 conferring risk of psychosis

Steinberg, S., de Jong, S., Mattheisen, M., Costas, J., Demontis, D., Jamain, S., Pietiläinen, O. P. H., Lin, K., Papiol, S., Huttenlocher, J., et al. (2014) · Molecular Psychiatry

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 104

No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder

Curran, S., Bolton, P., Rozsnyai, K., Chiocchetti, A., Klauck, S. M., Duketis, E., Poustka, F., Schlitt, S., Freitag, C. M., Lee, I., et al. (2011) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 34