Ropers, Hans-Hilger

Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

Brunner, H. G., Nelen, M., Breakefield, X. O., Ropers, H. H., & van Oost, B. A. (1993) · Science

Genetics and Neurodevelopmental DisordersNeurotransmitter Receptor Influence on Behavior

Cited by 1,644

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 965

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., et al. (2004) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 768

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., et al. (2009) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 603

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortüm, F., Fritsch, A., Pientka, F. K., et al. (2010) · Nature Genetics

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 499

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J.-P., et al. (2005) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 373

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Klopocki, E., Schulze, H., Strauß, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., et al. (2007) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesCongenital limb and hand anomalies

Cited by 360

Cloning of a gene that is rearranged in patients with choroideraemia

Cremers, F. P. M., van de Pol, D. J. R., van Kerkhoff, L. P. M., Wieringa, B., & Ropers, H.-H. (1990) · Nature

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 333

Genetics of intellectual disability

Ropers, H. H. (2008) · Current Opinion in Genetics & Development

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 199

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

Møller, R. S., Kübart, S., Hoeltzenbein, M., Heye, B., Vogel, I., Hansen, C. P., Menzel, C., Ullmann, R., Tommerup, N., Ropers, H.-H., et al. (2008) · The American Journal of Human Genetics

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 163

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Thorwarth, A., Schnittert-Hübener, S., Schrumpf, P., Müller, I., Jyrch, S., Dame, C., Biebermann, H., Kleinau, G., Katchanov, J., Schuelke, M., et al. (2014) · Journal of Medical Genetics

Genomics and Rare DiseasesDevelopmental Biology and Gene Regulation

Cited by 115

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

Borg, I., Freude, K., Kübart, S., Hoffmann, K., Menzel, C., Laccone, F., Firth, H., Ferguson-Smith, M. A., Tommerup, N., Ropers, H.-H., et al. (2005) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 95

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia

Gilling, M., Lauritsen, M. B., Møller, M., Henriksen, K. F., Vicente, A., Oliveira, G., Cintin, C., Eiberg, H., Andersen, P. S., Mors, O., et al. (2008) · European Journal of Human Genetics

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 18