Rappold, Gudrun

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., et al. (2012) · The Lancet

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 1,041

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Muroya, K., Binder, G., Kirsch, S., Winkelmann, M., et al. (1997) · Nature Genetics

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesGrowth Hormone and Insulin-like Growth Factors

Cited by 943

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Leblond, C. S., Nava, C., Polge, A., Gauthier, J., Huguet, G., Lumbroso, S., Giuliano, F., Stordeur, C., Depienne, C., Mouzat, K., et al. (2014) · PLoS Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 630

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Berkel, S., Marshall, C. R., Weiss, B., Howe, J., Roeth, R., Moog, U., Endris, V., Roberts, W., Szatmari, P., Pinto, D., et al. (2010) · Nature Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 563

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

Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter

Gründemann, D., Schechinger, B., Rappold, G., & Schömig, E. (1998) · Nature Neuroscience

Neuroscience and Neuropharmacology ResearchNeurotransmitter Receptor Influence on Behavior

Cited by 374

SHANK1 Deletions in Males with Autism Spectrum Disorder

Sato, D., Lionel, A. C., Leblond, C. S., Prasad, A., Pinto, D., Walker, S., O'Connor, I., Russell, C., Drmic, I. E., Hamdan, F. F., et al. (2012) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 318

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., Wohlleber, E., Dufke, A., Rossier, E., Petsch, C., et al. (2012) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersChromatin Remodeling and Cancer

Cited by 263

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

Berkel, S., Tang, W., Treviño, M., Vogt, M., Obenhaus, H. A., Gass, P., Scherer, S. W., Sprengel, R., Schratt, G., & Rappold, G. A. (2012) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 162

Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behaviour

Bacon, C., Schneider, M., Le Magueresse, C., Froehlich, H., Sticht, C., Gluch, C., Monyer, H., & Rappold, G. A. (2015) · Molecular Psychiatry

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 148

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Horn, D., Kapeller, J., Rivera-Brugués, N., Moog, U., Lorenz-Depiereux, B., Eck, S., Hempel, M., Wagenstaller, J., Gawthrope, A., Monaco, A. P., et al. (2010) · Human Mutation

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 140

Phenotypic spectrum associated with CASK loss-of-function mutations

Moog, U., Kutsche, K., Kortüm, F., Chilian, B., Bierhals, T., Apeshiotis, N., Balg, S., Chassaing, N., Coubes, C., Das, S., et al. (2011) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 135

Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome

Wang, J., Fröhlich, H., Torres, F. B., Silva, R. L., Poschet, G., Agarwal, A., & Rappold, G. A. (2022) · Proceedings of the National Academy of Sciences

Genetics and Neurodevelopmental DisordersMitochondrial Function and Pathology

Cited by 81

Serotonin Type 3 Receptor Genes: HTR3A, B, C, D, E

Niesler, B., Kapeller, J., Hammer, C., & Rappold, G. (2008) · Pharmacogenomics

Neurotransmitter Receptor Influence on BehaviorIon channel regulation and function

Cited by 78

Sex Hormones Regulate SHANK Expression

Berkel, S., Eltokhi, A., Fröhlich, H., Porras-Gonzalez, D., Rafiullah, R., Sprengel, R., & Rappold, G. A. (2018) · Frontiers in Molecular Neuroscience

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 41

Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders

Eltokhi, A., Gonzalez-Lozano, M. A., Oettl, L.-L., Rozov, A., Pitzer, C., Röth, R., Berkel, S., Hüser, M., Harten, A., Kelsch, W., et al. (2021) · Molecular Psychiatry

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 38