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Stefan Böhringer
Stefan Böhringer
Biomedical Data Sciences, Leiden University Medical Center
Verified email at lumc.nl - Homepage
Title
Cited by
Cited by
Year
Genetic studies of body mass index yield new insights for obesity biology
AE Locke, B Kahali, SI Berndt, AE Justice, TH Pers, FR Day, C Powell, ...
Nature 518 (7538), 197-206, 2015
45882015
New genetic loci link adipose and insulin biology to body fat distribution
D Shungin, TW Winkler, DC Croteau-Chonka, T Ferreira, AE Locke, ...
Nature 518 (7538), 187-196, 2015
15832015
Identification of seven loci affecting mean telomere length and their association with disease
V Codd, CP Nelson, E Albrecht, M Mangino, J Deelen, JL Buxton, ...
Nature genetics 45 (4), 422-427, 2013
9612013
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma
JC Chambers, W Zhang, J Sehmi, X Li, MN Wass, P Van der Harst, ...
Nature genetics 43 (11), 1131-1138, 2011
6122011
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals
Z Dastani, MF Hivert, N Timpson, JRB Perry, X Yuan, RA Scott, ...
PLoS genetics 8 (3), e1002607, 2012
5572012
A genome-wide association study identifies five loci influencing facial morphology in Europeans
F Liu, F Van Der Lijn, C Schurmann, G Zhu, MM Chakravarty, PG Hysi, ...
PLoS Genetics 8 (9), e1002932, 2012
3922012
Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age
J Deelen, M Beekman, HW Uh, L Broer, KL Ayers, Q Tan, Y Kamatani, ...
Human molecular genetics 23 (16), 4420-4432, 2014
2802014
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification
C Tasse, S Böhringer, S Fischer, HJ Lüdecke, B Albrecht, D Horn, ...
European journal of medical genetics 48 (4), 397-411, 2005
2592005
A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function
E Porcu, M Medici, G Pistis, CB Volpato, SG Wilson, AR Cappola, SD Bos, ...
PLoS genetics 9 (2), e1003266, 2013
2512013
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
D Wieczorek, N Bögershausen, F Beleggia, S Steiner-Haldenstätt, E Pohl, ...
Human molecular genetics 22 (25), 5121-5135, 2013
2372013
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
Ö Altug Teber, G Gillessen-Kaesbach, S Fischer, S Böhringer, B Albrecht, ...
European Journal of Human Genetics 12 (11), 879-890, 2004
2022004
Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels
HHM Draisma, R Pool, M Kobl, R Jansen, AK Petersen, AAM Vaarhorst, ...
Nature communications 6 (1), 7208, 2015
2002015
Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels
TO Kilpeläinen, JFM Carli, AA Skowronski, Q Sun, J Kriebel, MF Feitosa, ...
Nature communications 7 (1), 10494, 2016
1812016
A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study
JJ Swen, CH van der Wouden, LEN Manson, H Abdullah-Koolmees, ...
The Lancet 401 (10374), 347-356, 2023
1642023
A novel real-time PCR assay for quantitative analysis of methylated alleles (QAMA): analysis of the retinoblastoma locus
M Zeschnigk, S Böhringer, EA Price, Z Onadim, L Maßhöfer, DR Lohmann
Nucleic acids research 32 (16), e125-e125, 2004
1552004
Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways
J Deelen, HW Uh, R Monajemi, D van Heemst, PE Thijssen, S Böhringer, ...
Age 35, 235-249, 2013
1512013
Genetic determination of human facial morphology: links between cleft-lips and normal variation
S Boehringer, F van der Lijn, F Liu, M Günther, S Sinigerova, S Nowak, ...
European Journal of Human Genetics 19 (11), 1192-1197, 2011
1442011
A family with autosomal dominant oculo-auriculo-vertebral spectrum
C Tasse, F Majewski, S Böhringer, S Fischer, HJ Lüdecke, ...
Clinical dysmorphology 16 (1), 1-7, 2007
1132007
Syndrome identification based on 2D analysis software
S Boehringer, T Vollmar, C Tasse, RP Wurtz, G Gillessen-Kaesbach, ...
European journal of human genetics 14 (10), 1082-1089, 2006
1122006
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants
JC van den Bergen, M Hiller, S Böhringer, L Vijfhuizen, HB Ginjaar, ...
Journal of Neurology, Neurosurgery & Psychiatry 86 (10), 1060-1065, 2015
1112015
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