Uta Francke
Affiliations: | Stanford Medical School, Palo Alto, CA, United States |
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"Uta Francke"Children
Sign in to add trainee| Tayfun Ozcelik | grad student | Stanford Medical School | |
| Birgitt Schule | post-doc | 2003-2005 | Stanford University Medical School (Neurotree) |
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Publications
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| Rodriguez-Gil JL, Nagy PL, Francke U. (2024) Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder. American Journal of Medical Genetics. Part A. e63814 |
| da Costa Almeida CB, Welter AT, Abech GD, et al. (2020) Report of the Phenotype of a Patient with Roberts Syndrome and a Rare Variant. Journal of Pediatric Genetics. 9: 58-62 |
| Kiefer AK, Tung JY, Do CB, et al. (2013) Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia. Plos Genetics. 9: e1003299 |
| Eriksson N, Wu S, Do CB, et al. (2012) A genetic variant near olfactory receptor genes influences cilantro preference Flavour. 1: 22 |
| Barnholt KE, Hinds DA, Kiefer AK, et al. (2012) Estimation of JAK2 V617F Prevalence by Detection of the Mutation in Saliva Samples From Online MPN and General Population Cohorts Blood. 120: 1737-1737 |
| Stheneur C, Faivre L, Collod-Béroud G, et al. (2011) Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. Pediatric Research. 69: 265-70 |
| Goergen CJ, Li HH, Francke U, et al. (2011) Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities. Journal of Vascular Research. 48: 119-29 |
| Ding F, Li HH, Li J, et al. (2010) Neonatal maternal deprivation response and developmental changes in gene expression revealed by hypothalamic gene expression profiling in mice. Plos One. 5: e9402 |
| Li HH, Roy M, Kuscuoglu U, et al. (2009) Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice. Embo Molecular Medicine. 1: 50-65 |
| Faivre L, Collod-Beroud G, Callewaert B, et al. (2009) Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. European Journal of Human Genetics : Ejhg. 17: 491-501 |