Schenck, Annette

Genome sequencing identifies major causes of severe intellectual disability

Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 1,125

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

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., et al. (2017) · Nature Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 559

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

Schenck, A., Bardoni, B., Moro, A., Bagni, C., & Mandel, J.-L. (2001) · Proceedings of the National Academy of Sciences

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 356

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Zweier, C., de Jong, E. K., Zweier, M., Orrico, A., Ousager, L. B., Collins, A. L., Bijlsma, E. K., Oortveld, M. A. W., Ekici, A. B., Reis, A., et al. (2009) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 345

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

Schenck, A., Bardoni, B., Langmann, C., Harden, N., Mandel, J.-L., & Giangrande, A. (2003) · Neuron

Genetics and Neurodevelopmental DisordersNeurobiology and Insect Physiology Research

Cited by 316

Phosphorylation of WAVE1 regulates actin polymerization and dendritic spine morphology

Kim, Y., Sung, J. Y., Ceglia, I., Lee, K.-W., Ahn, J.-H., Halford, J. M., Kim, A. M., Kwak, S. P., Park, J. B., Ho Ryu, S., et al. (2006) · Nature

Neuroscience and Neuropharmacology ResearchCellular Mechanics and Interactions

Cited by 307

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

Epigenetic Regulation of Learning and Memory by Drosophila EHMT/G9a

Kramer, J. M., Kochinke, K., Oortveld, M. A. W., Marks, H., Kramer, D., de Jong, E. K., Asztalos, Z., Westwood, J. T., Stunnenberg, H. G., Sokolowski, M. B., et al. (2011) · PLoS Biology

Neurobiology and Insect Physiology ResearchEpigenetics and DNA Methylation

Cited by 204

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts

Castets, M., Schaeffer, C., Bechara, E., Schenck, A., Khandjian, E. W., Luche, S., Moine, H., Rabilloud, T., Mandel, J.-L., & Bardoni, B. (2005) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 162

A novel RNA binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

Bardoni, B., Schenck, A., & Louis Mandel, J. (1999) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 136

Protein complexes containing CYFIP/Sra/PIR121 coordinate Arf1 and Rac1 signalling during clathrin–AP-1-coated carrier biogenesis at the TGN

Anitei, M., Stange, C., Parshina, I., Baust, T., Schenck, A., Raposo, G., Kirchhausen, T., & Hoflack, B. (2010) · Nature Cell Biology

Cellular transport and secretionProtein Kinase Regulation and GTPase Signaling

Cited by 102

ADHD-associated dopamine transporter, latrophilin and neurofibromin share a dopamine-related locomotor signature in Drosophila

van der Voet, M., Harich, B., Franke, B., & Schenck, A. (2016) · Molecular Psychiatry

Attention Deficit Hyperactivity DisorderNeurotransmitter Receptor Influence on Behavior

Cited by 99

WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity

Schenck, A., Qurashi, A., Carrera, P., Bardoni, B., Diebold, C., Schejter, E., Mandel, J.-L., & Giangrande, A. (2004) · Developmental Biology

Axon Guidance and Neuronal SignalingNeurobiology and Insect Physiology Research

Cited by 76

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

Eidhof, I., Baets, J., Kamsteeg, E.-J., Deconinck, T., van Ninhuijs, L., Martin, J.-J., Schüle, R., Züchner, S., De Jonghe, P., Schenck, A., et al. (2018) · Brain

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 25

De novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Dias, K.-R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C.-A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., et al. (2022) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 13