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Stefanie Birnbaum
Researcher at University of Bonn
Publications - 14
Citations - 1256
Stefanie Birnbaum is an academic researcher from University of Bonn. The author has contributed to research in topics: IRF6 & Single-nucleotide polymorphism. The author has an hindex of 12, co-authored 14 publications receiving 1136 citations. Previous affiliations of Stefanie Birnbaum include University of Göttingen.
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Journal ArticleDOI
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
Stefanie Birnbaum,Stefanie Birnbaum,Kerstin U. Ludwig,Heiko Reutter,Stefan Herms,Michael Steffens,Michele Rubini,Carlotta Baluardo,Melissa Ferrian,Nilma Almeida de Assis,Margrieta A. Alblas,Sandra Barth,Jan Freudenberg,Carola Lauster,Gül Schmidt,Martin Scheer,Bert Braumann,Stefaan J. Bergé,Rudolf H. Reich,Franziska Schiefke,Alexander Hemprich,Simone Pötzsch,Régine P.M. Steegers-Theunissen,Bernd Pötzsch,Susanne Moebus,Bernhard Horsthemke,Franz-Josef Kramer,Thomas F. Wienker,Peter A. Mossey,Peter Propping,Sven Cichon,Per Hoffmann,Michael Knapp,Markus M. Nöthen,Elisabeth Mangold +34 more
TL;DR: A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that reached genome-wide significance.
Journal ArticleDOI
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
Elisabeth Mangold,Kerstin U. Ludwig,Stefanie Birnbaum,Carlotta Baluardo,Melissa Ferrian,Stefan Herms,Heiko Reutter,Nilma Almeida de Assis,Taofik Al Chawa,Manuel Mattheisen,Michael Steffens,Sandra Barth,Nadine Kluck,Anna Paul,Jessica Becker,Carola Lauster,Gül Schmidt,Bert Braumann,Martin Scheer,Rudolf H. Reich,Alexander Hemprich,Simone Pötzsch,Bettina Blaumeiser,Susanne Moebus,Michael Krawczak,Stefan Schreiber,Thomas Meitinger,Hans Erich Wichmann,Régine P.M. Steegers-Theunissen,Franz Josef Kramer,Sven Cichon,Peter Propping,Thomas F. Wienker,Michael Knapp,Michele Rubini,Peter A. Mossey,Per Hoffmann,Markus M. Nöthen +37 more
TL;DR: A genome-wide association study for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an independent sample of 793 NSCL/ P triads is conducted.
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Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
Antje Brockschmidt,Unda Todt,Soojin Ryu,Alexander Hoischen,Christina Landwehr,Stefanie Birnbaum,Wilhelm Frenck,Bernhard Radlwimmer,Peter Lichter,Hartmut Engels,Wolfgang Driever,Christian Kubisch,Ruthild G. Weber +12 more
TL;DR: The results show that haploinsufficiency of TCF4 causes Pitt-Hopkins syndrome and suggest that D. rerio is a valuable model to study the molecular pathogenesis of PHS and the role ofTCF4 in brain development.
Journal ArticleDOI
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.
Stefanie Birnbaum,Kerstin U. Ludwig,Heiko Reutter,Stefan Herms,Nilma Almeida de Assis,Amalia Diaz-Lacava,Sandra Barth,Carola Lauster,Gül Schmidt,Martin Scheer,Mitra Saffar,Markus Martini,Rudolf H. Reich,Franziska Schiefke,Alexander Hemprich,Simone Pötzsch,Bernd Pötzsch,Thomas F. Wienker,Per Hoffmann,Michael Knapp,Franz-Josef Kramer,Markus M. Nöthen,Elisabeth Mangold +22 more
TL;DR: The involvement of the IRF6 variant, rs642961, in the etiology of NSCL/P in the Central European population is confirmed and evidence suggestive of an independent protective effect of the coding variant V274I is found.
Journal ArticleDOI
Genome-wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin†
Elisabeth Mangold,Heiko Reutter,Stefanie Birnbaum,Maja Walier,Manuel Mattheisen,Henning Henschke,Carola Lauster,Gül Schmidt,Franziska Schiefke,Rudolf H. Reich,Martin Scheer,Alexander Hemprich,Markus Martini,Bert Braumann,Michael Krimmel,Charlotte Opitz,Jan-Hendrik Lenz,Franz-Josef Kramer,Thomas F. Wienker,Markus M. Nöthen,Amalia Diaz Lacava +20 more
TL;DR: This study has identified promising chromosomal regions for the identification of NSC‐associated genes, and demonstrates the importance of performing detailed statistical analyses which take into account complex genetic mechanisms such as sex‐specific effects and genomic imprinting.