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S. Uebe · SciRah

Researcher profile · Semantic Scholar

S. Uebe

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S. Uebe — researcher profile on SciRah

h-index: 39
Works: 114
Citations: 5,917

Most-cited papers

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study
P. Haycock, S. Burgess, A. Nounu, Jie Zheng +194 more
2017JAMA Oncology435 citations Open access
Semantic Scholar
Corrigendum: Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis
J. Bowes, A. Budu-Aggrey, U. Hüffmeier, S. Uebe +28 more
2015Nature Communications367 citations Open access
Semantic Scholar
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
P. Gharahkhani, E. Jorgenson, P. Hysi, A. Khawaja +75 more
2021Nature Communications366 citations Open access
Semantic Scholar
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
M. Reuter, Hasan Tawamie, R. Buchert, Ola Hosny Gebril +25 more
2017JAMA psychiatry231 citations Open access
Semantic Scholar
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
K. Boycott, C. Beaulieu, K. Kernohan, O. Gebril +22 more
2015American Journal of Human Genetics208 citations Open access
Semantic Scholar
Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis
J. Bowes, A. Budu-Aggrey, U. Hüffmeier, S. Uebe +28 more
2015Nature Communications195 citations Open access
Semantic Scholar
SPI1/PU.1 controls fibroblast polarization and tissue fibrosis
T. Wohlfahrt, S. Rauber, S. Uebe, M. Luber +30 more
2019Nature163 citations Open access
Semantic Scholar
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
T. Aung, M. Ozaki, Mei-Chin Lee, U. Schlötzer-Schrehardt +285 more
2017Nature Genetics144 citations Open access
Semantic Scholar
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
R. Buchert, Hasan Tawamie, Christopher Smith, S. Uebe +9 more
2014American Journal of Human Genetics126 citations Open access
Semantic Scholar
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
Nadine N. Hauer, B. Popp, E. Schoeller, S. Schuhmann +20 more
2017Genetics in Medicine121 citations Open access
Semantic Scholar
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2
C. Kraus, J. Hoyer, G. Vasileiou, M. Wunderle +7 more
2017International Journal of Cancer116 citations Open access
Semantic Scholar
A common variant mapping to CACNA1A is associated with susceptibility to Exfoliation syndrome
T. Aung, M. Ozaki, Takanori Mizoguchi, R. Allingham +157 more
2015Nature Genetics116 citations Open access
Semantic Scholar
The genetic basis for most patients with pustular skin disease remains elusive
R. Mössner, D. Wilsmann-Theis, V. Oji, P. Gkogkolou +26 more
2018British Journal of Dermatology109 citations Open access
Semantic Scholar
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
A. Ekici, Thomas Hackenbeck, V. Moriniére, Andrea Pannes +19 more
2014Kidney International96 citations Open access
Semantic Scholar
Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.
R. Mössner, Y. Frambach, D. Wilsmann-Theis, S. Löhr +14 more
2015Journal of Investigative Dermatology92 citations Open access
Semantic Scholar
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
B. Popp, Mandy Krumbiegel, Janina Grosch, Annika Sommer +15 more
2018Scientific Reports81 citations Open access
Semantic Scholar
PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus
J. Bowes, Sabine Loehr, A. Budu-Aggrey, S. Uebe +20 more
2015Annals of the Rheumatic Diseases81 citations Open access
Semantic Scholar
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.
Michael A. Hauser, Inas F. Aboobakar, Yutao Liu, S. Miura +33 more
2015Human Molecular Genetics80 citations Open access
Semantic Scholar
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases
S. Haskamp, H. Bruns, Madelaine Hahn, M. Hoffmann +32 more
2020American Journal of Human Genetics79 citations Open access
Semantic Scholar
Transcription factor Fra-1 targets arginase-1 to enhance macrophage-mediated inflammation in arthritis.
N. Hannemann, Shan Cao, D. Eriksson, A. Schnelzer +14 more
2019Journal of Clinical Investigation78 citations Open access
Semantic Scholar
Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling.
G. Vasileiou, A. Ekici, S. Uebe, C. Zweier +5 more
2015American Journal of Human Genetics78 citations Open access
Semantic Scholar
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
M. Hebebrand, U. Hüffmeier, Regina Trollmann, U. Hehr +7 more
2018bioRxiv73 citations Open access
Semantic Scholar
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
Nadine N. Hauer, H. Sticht, Sangamitra Boppudi, C. Büttner +15 more
2017Scientific Reports71 citations Open access
Semantic Scholar
Rare loss-of-function mutation in SERPINA3 in generalized pustular psoriasis.
Silke Frey, H. Sticht, D. Wilsmann-Theis, Anne Gerschütz +25 more
2020Journal of Investigative Dermatology68 citations Open access
Semantic Scholar
Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1
F. Pasutto, M. Zenkel, U. Hoja, D. Berner +21 more
2017Nature Communications62 citations Open access
Semantic Scholar
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
L. Stephen, Hasan Tawamie, Gemma M. Davis, Lars Tebbe +19 more
2015eLife61 citations Open access
Semantic Scholar
DNA methylation mediates genotype and smoking interaction in the development of anti-citrullinated peptide antibody-positive rheumatoid arthritis
Wei-Da Meng, Zai-Hua Zhu, Xia Jiang, C. Too +12 more
2017Arthritis Research & Therapy60 citations Open access
Semantic Scholar
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
I. Ahmed, R. Buchert, Mi Zhou, Xinfu Jiao +19 more
2015Human Molecular Genetics51 citations Open access
Semantic Scholar
TRIM28 haploinsufficiency predisposes to Wilms tumor
I. Diets, J. Hoyer, A. Ekici, B. Popp +22 more
2019International Journal of Cancer46 citations Open access
Semantic Scholar
NDST1 missense mutations in autosomal recessive intellectual disability
M. Reuter, L. Musante, Hao Hu, S. Diederich +13 more
2014American Journal of Medical Genetics. Part A45 citations Open access
Semantic Scholar
Choline transporter‐like1 (CHER1) is crucial for plasmodesmata maturation in Arabidopsis thaliana
M. Kraner, K. Link, M. Melzer, A. Ekici +5 more
2017The Plant Journal44 citations Open access
Semantic Scholar
High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder
E. Grünblatt, B. Oneda, A. Ekici, J. Ball +5 more
2017BMC Medical Genomics43 citations Open access
Semantic Scholar
Fra-2 regulates B cell development by enhancing IRF4 and Foxo1 transcription
Kenia Ubieta, Mireia Garcia, Bettina Grötsch, S. Uebe +6 more
2017Journal of Experimental Medicine37 citations Open access
Semantic Scholar
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia
Z. Iqbal, Hasan Tawamie, W. Ba, A. Reis +7 more
2019Genetics in Medicine36 citations Open access
Semantic Scholar
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
L. Mauri, S. Uebe, H. Sticht, U. Vossmerbaeumer +8 more
2016Orphanet Journal of Rare Diseases36 citations Open access
Semantic Scholar
T cells are influenced by a long non-coding RNA in the autoimmune associated PTPN2 locus.
M. Houtman, K. Shchetynsky, K. Chemin, A. Hensvold +8 more
2018Journal of Autoimmunity35 citations Open access
Semantic Scholar
The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25
Alejandro Leal, S. Bogantes-Ledezma, A. Ekici, S. Uebe +7 more
2018Neurogenetics34 citations Open access
Semantic Scholar
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects
Kristin Kessler, I. Wunderlich, S. Uebe, Nathalie Falk +11 more
2015Scientific Reports33 citations Open access
Semantic Scholar
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders
M. Reuter, J. Sass, T. Leis, Julia Köhler +9 more
2014American Journal of Medical Genetics. Part A32 citations Open access
Semantic Scholar
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
Hasan Tawamie, Igor Martianov, Natalie Wohlfahrt, R. Buchert +11 more
2017American Journal of Human Genetics31 citations Open access
Semantic Scholar
Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila
A. Gregor, Jamie M. Kramer, M. van der Voet, I. Schanze +5 more
2014Human Mutation31 citations
Semantic Scholar
Prenatal diagnosis of HNF1B‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
G. Vasileiou, J. Hoyer, C. Thiel, J. Schaefer +13 more
2019Prenatal Diagnosis27 citations Open access
Semantic Scholar
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria
J. Hoyer, G. Vasileiou, S. Uebe, M. Wunderle +7 more
2018BMC Cancer26 citations Open access
Semantic Scholar
MAP4‐Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation
Diana Zahnleiter, Nadine N. Hauer, Kristin Kessler, S. Uebe +9 more
2015Human Mutation26 citations
Semantic Scholar
The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome
D. Berner, U. Hoja, M. Zenkel, James J. Ross +27 more
2019Human Molecular Genetics25 citations Open access
Semantic Scholar
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.
F. Wopperer, K. Knaup, Kira-Julia Stanzick, K. Schneider +28 more
2022Kidney International23 citations Open access
Semantic Scholar
Systematic approach demonstrates enrichment of multiple interactions between non-HLA risk variants and HLA-DRB1 risk alleles in rheumatoid arthritis
L. Diaz-Gallo, D. Ramsköld, K. Shchetynsky, L. Folkersen +7 more
2018Annals of the Rheumatic Diseases23 citations Open access
Semantic Scholar
Interspecies Single‐Cell RNA‐Seq Analysis Reveals the Novel Trajectory of Osteoclast Differentiation and Therapeutic Targets
Y. Omata, Hiroyuki Okada, S. Uebe, Naohiro Izawa +6 more
2022JBMR Plus21 citations Open access
Semantic Scholar
Transcriptomes of MPO-deficient patients with generalized pustular psoriasis reveals expansion of CD4+ cytotoxic T cells and an involvement of the complement system.
S. Haskamp, B. Frey, I. Becker, A. Schulz-Kuhnt +11 more
2021Journal of Investigative Dermatology20 citations Open access
Semantic Scholar
TALPID 3 controls centrosome and cell polarity and the human ortholog KIAA 0586 is 1 mutated in Joubert syndrome ( JBTS 23 ) 2 3
L. Stephen, Hasan Tawamie, Gemma M. Davis, Lars Tebbe +20 more
201519 citations
Semantic Scholar

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