GPFrontend and GPGraphics: graphical analysis tools for genetic association studies

por Uebe, Steffen, Pasutto, Francesca, Krumbiegel, Mandy, Schanze, Denny, Ekici, Arif B, Reis, André
Publicado 2010

Novel Loci for Non-Syndromic Coarctation of the Aorta in Sporadic and Familial Cases

por Moosmann, Julia, Uebe, Steffen, Dittrich, Sven, Rüffer, André, Ekici, Arif B., Toka, Okan
Publicado 2015

Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization

por Böhm, Beate, Burkhardt, Harald, Uebe, Steffen, Apel, Maria, Behrens, Frank, Reis, André, Hüffmeier, Ulrike
Publicado 2012

Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability

por Scheller, Ute, Pfisterer, Kathrin, Uebe, Steffen, Ekici, Arif B., Reis, André, Jamra, Rami, Ferrazzi, Fulvia
Publicado 2018

Experimental Epileptogenesis in a Cell Culture Model of Primary Neurons from Rat Brain: A Temporal Multi-Scale Study

por Jablonski, Janos, Hoffmann, Lucas, Blümcke, Ingmar, Fejtová, Anna, Uebe, Steffen, Ekici, Arif B., Gnatkovsky, Vadym, Kobow, Katja
Publicado 2021

High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder

por Grünblatt, Edna, Oneda, Beatrice, Ekici, Arif B., Ball, Juliane, Geissler, Julia, Uebe, Steffen, Romanos, Marcel, Rauch, Anita, Walitza, Susanne
Publicado 2017

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability

por Popp, Bernt, Agaimy, Abbas, Kraus, Cornelia, Knaup, Karl X., Ekici, Arif B., Uebe, Steffen, Reis, André, Wiesener, Michael, Zweier, Christiane
Publicado 2019

Fra-2 regulates B cell development by enhancing IRF4 and Foxo1 transcription

por Ubieta, Kenia, Garcia, Mireia, Grötsch, Bettina, Uebe, Steffen, Weber, Georg F., Stein, Merle, Ekici, Arif, Schett, Georg, Mielenz, Dirk, Bozec, Aline
Publicado 2017

Interspecies Single‐Cell RNA‐Seq Analysis Reveals the Novel Trajectory of Osteoclast Differentiation and Therapeutic Targets

por Omata, Yasunori, Okada, Hiroyuki, Uebe, Steffen, Izawa, Naohiro, Ekici, Arif B., Sarter, Kerstin, Saito, Taku, Schett, Georg, Tanaka, Sakae, Zaiss, Mario M.
Publicado 2022

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

por Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B., Kraus, Cornelia, Krumbiegel, Mandy, Reis, André, Thiel, Christian T., Popp, Bernt
Publicado 2019

Rare Copy Number Variants Are a Common Cause of Short Stature

por Zahnleiter, Diana, Uebe, Steffen, Ekici, Arif B., Hoyer, Juliane, Wiesener, Antje, Wieczorek, Dagmar, Kunstmann, Erdmute, Reis, André, Doerr, Helmuth-Guenther, Rauch, Anita, Thiel, Christian T.
Publicado 2013

Systematic approach demonstrates enrichment of multiple interactions between non-HLA risk variants and HLA-DRB1 risk alleles in rheumatoid arthritis

por Diaz-Gallo, Lina-Marcela, Ramsköld, Daniel, Shchetynsky, Klementy, Folkersen, Lasse, Chemin, Karine, Brynedal, Boel, Uebe, Steffen, Okada, Yukinori, Alfredsson, Lars, Klareskog, Lars, Padyukov, Leonid
Publicado 2018

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

por Leal, Alejandro, Bogantes-Ledezma, Sixto, Ekici, Arif B., Uebe, Steffen, Thiel, Christian T., Sticht, Heinrich, Berghoff, Martin, Berghoff, Corinna, Morera, Bernal, Meisterernst, Michael, Reis, André
Publicado 2018

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

por Mauri, Lucia, Uebe, Steffen, Sticht, Heinrich, Vossmerbaeumer, Urs, Weisschuh, Nicole, Manfredini, Emanuela, Maselli, Edoardo, Patrosso, Mariacristina, Weinreb, Robert N., Penco, Silvana, Reis, André, Pasutto, Francesca
Publicado 2016

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria

por Hoyer, Juliane, Vasileiou, Georgia, Uebe, Steffen, Wunderle, Marius, Kraus, Cornelia, Fasching, Peter A., Thiel, Christian T., Hartmann, Arndt, Beckmann, Matthias W., Lux, Michael P., Reis, André
Publicado 2018

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study

por Popp, Bernt, Ekici, Arif B., Knaup, Karl X., Schneider, Karen, Uebe, Steffen, Park, Jonghun, Bafna, Vineet, Meiselbach, Heike, Eckardt, Kai-Uwe, Schiffer, Mario, Reis, André, Kraus, Cornelia, Wiesener, Michael
Publicado 2022

Network- and systems-based re-engineering of dendritic cells with non-coding RNAs for cancer immunotherapy

por Lai, Xin, Dreyer, Florian S., Cantone, Martina, Eberhardt, Martin, Gerer, Kerstin F., Jaitly, Tanushree, Uebe, Steffen, Lischer, Christopher, Ekici, Arif, Wittmann, Jürgen, Jäck, Hans-Martin, Schaft, Niels, Dörrie, Jan, Vera, Julio
Publicado 2021

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

por Kessler, Kristin, Wunderlich, Ina, Uebe, Steffen, Falk, Nathalie S., Gießl, Andreas, Helmut Brandstätter, Johann, Popp, Bernt, Klinger, Patricia, Ekici, Arif B., Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Roepman, Ronald, Seemanová, Eva, Thiel, Christian T.
Publicado 2015

Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients

por Uebe, Steffen, Ehrlicher, Maria, Ekici, Arif Bülent, Behrens, Frank, Böhm, Beate, Homuth, Georg, Schurmann, Claudia, Völker, Uwe, Jünger, Michael, Nauck, Matthias, Völzke, Henry, Traupe, Heiko, Krawczak, Michael, Burkhardt, Harald, Reis, André, Hüffmeier, Ulrike
Publicado 2017

DNA methylation mediates genotype and smoking interaction in the development of anti-citrullinated peptide antibody-positive rheumatoid arthritis

por Meng, Weida, Zhu, Zaihua, Jiang, Xia, Too, Chun Lai, Uebe, Steffen, Jagodic, Maja, Kockum, Ingrid, Murad, Shahnaz, Ferrucci, Luigi, Alfredsson, Lars, Zou, Hejian, Klareskog, Lars, Feinberg, Andrew P., Ekström, Tomas J., Padyukov, Leonid, Liu, Yun
Publicado 2017