R
Ruth Herberz
Researcher at University of Bonn
Publications - 4
Citations - 474
Ruth Herberz is an academic researcher from University of Bonn. The author has contributed to research in topics: Genome-wide association study & Single-nucleotide polymorphism. The author has an hindex of 4, co-authored 4 publications receiving 424 citations.
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Journal ArticleDOI
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
Kerstin U. Ludwig,Elisabeth Mangold,Stefan Herms,Stefanie Nowak,Stefanie Nowak,Heiko Reutter,Heiko Reutter,Anna Paul,Jessica Becker,Ruth Herberz,Taofik AlChawa,Entessar Nasser,Anne C. Böhmer,Manuel Mattheisen,Manuel Mattheisen,Margrieta A. Alblas,Sandra Barth,Nadine Kluck,Carola Lauster,Bert Braumann,Rudolf H. Reich,Alexander Hemprich,Simone Pötzsch,Bettina Blaumeiser,Nikolaos Daratsianos,Thomas Kreusch,Jeffrey C. Murray,Mary L. Marazita,Ingo Ruczinski,Alan F. Scott,Terri H. Beaty,Franz Josef Kramer,Thomas F. Wienker,Régine P.M. Steegers-Theunissen,Michele Rubini,Peter A. Mossey,Per Hoffmann,Christoph Lange,Christoph Lange,Sven Cichon,Peter Propping,Michael Knapp,Markus M. Nöthen +42 more
TL;DR: The first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date identified the first specific genetic risk factor for NSCLP.
Journal ArticleDOI
Genetic determination of human facial morphology: links between cleft-lips and normal variation.
Stefan Boehringer,Fedde van der Lijn,Fan Liu,Manuel Günther,Stella Sinigerova,Stefanie Nowak,Kerstin U. Ludwig,Ruth Herberz,Stefan Klein,Albert Hofman,André G. Uitterlinden,Wiro J. Niessen,Wiro J. Niessen,Monique M.B. Breteler,Aad van der Lugt,Rolf P. Würtz,Markus M. Nöthen,Bernhard Horsthemke,Dagmar Wieczorek,Elisabeth Mangold,Manfred Kayser +20 more
TL;DR: The data provide a first link between genetic loci involved in a pathological facial trait such as NSCL/P and variation of normal facial morphology, and present a first approach for understanding the genetic basis of human facial appearance.
Journal ArticleDOI
Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25
Augusto Rojas-Martinez,Heiko Reutter,Oscar F. Chacon-Camacho,Rafael B. R. León-Cachón,Sergio G. Munoz-Jimenez,Stefanie Nowak,Jessica Becker,Ruth Herberz,Kerstin U. Ludwig,Mario Paredes-Zenteno,Abelardo Arizpe-Cantú,Susanne Raeder,Stefan Herms,Rocio Ortiz-Lopez,Michael Knapp,Per Hoffmann,Markus M. Nöthen,Elisabeth Mangold +17 more
TL;DR: It is suggested that IRF6 and the 10q25 and 8q24 loci confer a risk for the development of NSCL/P in persons of Mayan origin.
Journal ArticleDOI
Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.
Entessar Nasser,Elisabeth Mangold,Daniela C. Tradowsky,Heide Loehlein Fier,Heide Loehlein Fier,Jessica Becker,Anne C. Boehmer,Ruth Herberz,Nadine Fricker,Sandra Barth,Philipp Wahle,Stefanie Nowak,Heiko Reutter,Heiko Reutter,Rudolf H. Reich,Carola Lauster,Bert Braumann,Thomas Kreusch,Alexander Hemprich,Bernd Pötzsch,Per Hoffmann,Franz-Josef Kramer,Michael Knapp,Christoph Lange,Christoph Lange,Markus M. Nöthen,Kerstin U. Ludwig +26 more
TL;DR: The data do not support the hypothesis that highly penetrant rare variants in VAX1 are a cause of NSCL/P, and further research, in particular into the biologic function of its long isoform, is warranted.