Francke, Uta

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 4,990

NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21

Arron, J. R., Winslow, M. M., Polleri, A., Chang, C.-P., Wu, H., Gao, X., Neilson, J. R., Chen, L., Heit, J. J., Kim, S. K., et al. (2006) · Nature

Down syndrome and intellectual disability researchSignaling Pathways in Disease

Cited by 698

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

Wan, M., Lee, S. S. J., Zhang, X., Houwink-Manville, I., Song, H.-R., Amir, R. E., Budden, S., Naidu, S., Pereira, J. L. P., Lo, I. F. M., et al. (1999) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 520

Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson’s disease

Do, C. B., Tung, J. Y., Dorfman, E., Kiefer, A. K., Drabant, E. M., Francke, U., Mountain, J. L., Goldman, S. M., Tanner, C. M., Langston, J. W., et al. (2011) · PLoS Genetics

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 515

Molecular genetics of steroid 5 alpha-reductase 2 deficiency

Thigpen, A. E., Davis, D. L., Milatovich, A., Mendonca, B. B., Imperato-McGinley, J., Griffin, J. E., Francke, U., Wilson, J. D., & Russell, D. W. (1992) · Journal of Clinical Investigation

Sexual Differentiation and DisordersUrological Disorders and Treatments

Cited by 422

Widespread changes in dendritic and axonal morphology in Mecp2‐mutant mouse models of rett syndrome: Evidence for disruption of neuronal networks

Belichenko, P. V., Wright, E. E., Belichenko, N. P., Masliah, E., Li, H. H., Mobley, W. C., & Francke, U. (2009) · Journal of Comparative Neurology

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 272

Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms

Hinds, D. A., Barnholt, K. E., Mesa, R. A., Kiefer, A. K., Do, C. B., Eriksson, N., Mountain, J. L., Francke, U., Tung, J. Y., Nguyen, H. (., et al. (2016) · Blood

Myeloproliferative Neoplasms: Diagnosis and TreatmentGenetic Associations and Epidemiology

Cited by 267

A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci

Hinds, D. A., McMahon, G., Kiefer, A. K., Do, C. B., Eriksson, N., Evans, D. M., St Pourcain, B., Ring, S. M., Mountain, J. L., Francke, U., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyAsthma and respiratory diseases

Cited by 246

Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome

Gallagher, R. C., Pils, B., Albalwi, M., & Francke, U. (2002) · The American Journal of Human Genetics

Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalities

Cited by 133

An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

Edelmann, L., Prosnitz, A., Pardo, S., Bhatt, J., Cohen, N., Lauriat, T., Ouchanov, L., González, P. J., Manghi, E. R., Bondy, P., et al. (2007) · Journal of Medical Genetics

Williams Syndrome ResearchGenomic variations and chromosomal abnormalities

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