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Steffen Uebe

Correction: Corrigendum: Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis
2015 · John Bowes, Ashley Budu-Aggrey, et al. · Nature Communications · 862
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Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases
2017 · Philip C. Haycock, Stephen Burgess, et al. · JAMA Oncology · 513
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Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
2021 · Puya Gharahkhani, Eric Jorgenson, et al. · Nature Communications · 446
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Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis
2010 · Ulrike Hüffmeier, Steffen Uebe, et al. · Nature Genetics · 371
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
2017 · Miriam S. Reuter, Hasan Tawamie, et al. · JAMA Psychiatry · 242
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8
2015 · Kym M. Boycott, Chandree L. Beaulieu, et al. · The American Journal of Human Genetics · 235
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Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma
2010 · Verena Matejas, Bernward Hinkes, et al. · Human Mutation · 207
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Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis
2015 · John Bowes, Ashley Budu-Aggrey, et al. · Nature Communications · 187
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PU.1 controls fibroblast polarization and tissue fibrosis
2019 · Thomas Wohlfahrt, Simon Rauber, et al. · Nature · 186
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De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability
2013 · Anne Gregor, Martin Oti, et al. · The American Journal of Human Genetics · 160
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Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
2017 · Tin Aung, Mineo Ozaki, et al. · Nature Genetics · 155
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
2017 · Nadine N. Hauer, Bernt Popp, et al. · Genetics in Medicine · 142
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A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency
2014 · Rebecca Buchert, Hasan Tawamie, et al. · The American Journal of Human Genetics · 132
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A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
2015 · Blue Mountains Eye Study GWAS Team, Tin Aung, et al. · Nature Genetics · 126
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2
2016 · Cornelia Kraus, Juliane Hoyer, et al. · International Journal of Cancer · 118
Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients
2015 · Rotraut Mössner, Yvonne Frambach, et al. · Journal of Investigative Dermatology · 117
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets
2025 · Nick Dand, Philip E. Stuart, et al. · Nature Communications · 106
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin
2014 · Arif B. Ekici, Thomas Hackenbeck, et al. · Kidney International · 104
Transcription factor Fra-1 targets arginase-1 to enhance macrophage-mediated inflammation in arthritis
2019 · Nicole Hannemann, Shan Cao, et al. · Journal of Clinical Investigation · 103
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The genetic basis for most patients with pustular skin disease remains elusive
2017 · R. Mössner, D. Wilsmann-Theis, et al. · British Journal of Dermatology · 103
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Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
2011 · R Abou Jamra, Sigrun Wohlfart, et al. · European Journal of Human Genetics · 93
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TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
2015 · Louise A Stephen, Hasan Tawamie, et al. · eLife · 91
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
2018 · Bernt Popp, Mandy Krumbiegel, et al. · Scientific Reports · 86
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Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases
2020 · Stefan Haskamp, Heiko Bruns, et al. · The American Journal of Human Genetics · 84
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PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus
2015 · John Bowes, Sabine Loehr, et al. · Annals of the Rheumatic Diseases · 83
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Works count: 191
Citation count: 6,973
H-index: 40
I10-index: 76
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