Uta Francke

Clinical Focus

• Clinical Genetics
• Neurogenetics

Honors and Awards

• Elected Member, Institute of Medicine (National Academies) (1990)
• Elected Fellow, American Association for the Advancement of Science (1995)
• Elected Member, American Academy of Arts and Sciences (1997)
• Elected President, American Society of Human Genetics (1999)
• Colonel Harland Sanders Lifetime Achievement Award in Genetics, March of Dimes Birth Defects Foundation (2001)

Professional Education

Graduate & Fellowship Program Affiliations

• Genetics

Industry Relationships

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Research Interests

To understand the functional consequences of microdeletions that cause defined clinical syndromes, the laboratory has created mouse models for Williams-Beuren syndrome and Prader-Willi syndrome (PWS). The PWS mice are deleted for an imprinted cluster of C/D box small nucleolar RNA (snoRNA) genes. Current goals are to identify the function of these snoRNAs and to understand how their loss causes the PWS phenotype.

Publications

• Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Pediatrics. 2009; 123 (1): 391-8
• Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks. Belichenko PV, Wright EE, Belichenko NP, Masliah E, Li HH, Mobley WC, Francke U. J Comp Neurol. 2009; 514 (3): 240-58
• Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Am J Med Genet A. 2009; 149A (5): 854-60
• Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Faivre L, Collod-Beroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Eur J Hum Genet. 2009; 17 (4): 491-501
• Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice Li HH, Roy M, Kuscuoglu U, Spencer CM, Halm B, Harrison KC, Bayle JH, Splendore A, Ding F, Meltzer LA, Wright E, Paylor R, Deisseroth K, Francke U. EMBO Molecular Medicine. 2009; 1 (1): 50-65