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Bernhard H. F. Weber

Institute of Human Genetics

82H-index
702Paper Count
2.8WCitation Count
Published Papers 170
Publication Date
Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone–Rod Dystrophies
err2025-11-08
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errNina Zehe-Lindau; Birgit Lindau; Heidi Stöhr; Bernhard H. F. Weber; Georg Spital; Ulrich Kellner
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Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa
err2025-05-06
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errZehe-Lindau, Nina; Lindau, Birgit; Stoehr, Heidi; Weber, Bernhard H. F.; Spital, Georg; Kellner, Ulrich
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18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies
err2024-10-26
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errKiel, Christina; Biasella, Fabiola; Stoehr, Heidi; Rating, Philipp; Spital, Georg; Kellner, Ulrich; Hufendiek, Karsten; Huchzermeyer, Cord; Jaegle, Herbert; Ruether, Klaus; Weber, Bernhard H. F.
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QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration
err2024-03-04
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errAdvani, Jayshree; Mehta, Puja A.; Hamel, Andrew R.; Mehrotra, Sudeep; Kiel, Christina; Strunz, Tobias; Corso-Diaz, Ximena; Kwicklis, Madeline; van Asten, Freekje; Ratnapriya, Rinki; Chew, Emily Y.; Hernandez, Dena G.; Montezuma, Sandra R.; Ferrington, Deborah A.; Weber, Bernhard H. F.; Segre, Ayellet V.; Swaroop, Anand
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The glucocorticoid receptor as a master regulator of the Müller cell response to diabetic conditions in mice
err2024-01-25
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errPfaller, Anna M.; Kaplan, Lew; Carido, Madalena; Grassmann, Felix; Diaz-Lezama, Nundehui; Ghaseminejad, Farhad; Wunderlich, Kirsten A.; Glaenzer, Sarah; Bludau, Oliver; Pannicke, Thomas; Weber, Bernhard H. F.; Koch, Susanne F.; Bonev, Boyan; Hauck, Stefanie M.; Grosche, Antje
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Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
err2023-10-01
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errCorradi, Zelia; Khan, Mubeen; Hitti-Malin, Rebekkah; Mishra, Ketan; Whelan, Laura; Cornelis, Stephanie S.; Hoyng, Carel B.; Kampjarvi, Kati; Klaver, Caroline C. W.; Liskova, Petra; Stoehr, Heidi; Weber, Bernhard H. F.; Banfi, Sandro; Farrar, G. Jane; Sharon, Dror; Zernant, Jana; Allikmets, Rando; Dhaenens, Claire-Marie; Cremers, Frans P. M.
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Genetic Risk Score Analysis Supports a Joint View of Two Classification Systems for Age-Related Macular Degeneration
err2023-09-18
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errHerold, Janina M.; Zimmermann, Martina E.; Gorski, Mathias; Gunther, Felix; Weber, Bernhard H. F.; Helbig, Horst; Stark, Klaus J.; Heid, Iris M.; Brandl, Caroline
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Regional hyperthermia with cisplatin added to gemcitabine versus gemcitabine in patients with resected pancreatic ductal adenocarcinoma: The HEAT randomised clinical trial
err2023-03-01
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PREAI
errIssels, Rolf D.; Boeck, Stefan; Pelzer, Uwe; Mansmann, Ulrich; Ghadjar, Pirus; Lindner, Lars H.; Albertsmeier, Markus; Angele, Martin K.; Schmidt, Michael; Xu, Yujun; Bahra, Marcus; Pratschke, Johann; Schoenberg, Michael; Thasler, Wolfgang E.; Salat, Christoph; Stoetzer, Oliver J.; Knoefel, Wolfram T.; Graf, Dirk; Wessalowski, Rudiger; Keitel-Anselmino, Verena; Koenigsrainer, Alfred; Bitzer, Michael; Zips, Daniel; Bamberg, Michael; Fietkau, Rainer; Ott, Oliver; Kawecki, Maciej; Wyrwicz, Lucian; Rutkowski, Piotr; Rentsch, Markus; Ababei, Juliana; Reichardt, Peter; Rigamonti, Marco; Weber, Bernhard; Abdel-Rahman, Sultan; Tschoep-Lechner, Katharina; Jauch, Karl-Walter; Bruns, Christiane J.; Oettle, Helmut; von Bergwelt-Baildon, Michael; Heinemann, Volker; Werner, Jens
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The extracellular microenvironment in immune dysregulation and inflammation in retinal disorders
err2023-03-01
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errBiasella, Fabiola; Ploessl, Karolina; Baird, Paul N.; Weber, Bernhard H. F.
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Systems genomics in age-related macular degeneration
err2022-12-01
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errden Hollander, Anneke I.; Mullins, Robert F.; Orozco, Luz D.; Voigt, Andrew P.; Chen, Hsu-Hsin; Strunz, Tobias; Grassmann, Felix; Haines, Jonathan L.; Kuiper, Jonas J. W.; Tumminia, Santa J.; Allikmets, Rando; Hageman, Gregory S.; Stambolian, Dwight; Klaver, Caroline C. W.; Boeke, Jef D.; Chen, Hao; Honigberg, Lee; Katti, Suresh; Frazer, Kelly A.; Weber, Bernhard H. F.; Gorin, Michael B.
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Retinoschisin and novel Na/K-ATPase interaction partners Kv2.1 and Kv8.2 define a growing protein complex at the inner segments of mammalian photoreceptors
err2022-07-25
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errSchmid, Verena; Wurzel, Alexander; Wetzel, Christian H.; Ploessl, Karolina; Bruckmann, Astrid; Luckner, Patricia; Weber, Bernhard H. F.; Friedrich, Ulrike
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Vitronectin and Its Interaction with PAI-1 Suggests a Functional Link to Vascular Changes in AMD Pathobiology
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IF5.2
err2022-05-27
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errBiasella, Fabiola; Strunz, Tobias; Kiel, Christina; Weber, Bernhard H. F.; Friedrich, Ulrike
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Seed sequence polymorphism rs2168518 and allele-specific target gene regulation of hsa-miR-4513
err2021-10-04
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errKiel, Christina; Strunz, Tobias; Hasler, Daniele; Meister, Gunter; Grassmann, Felix; Weber, Bernhard H. F.
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Assigning Co-Regulated Human Genes and Regulatory Gene Clusters
errCELLS
IF5.2
err2021-09-12
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errStrunz, Tobias; Kellner, Martin; Kiel, Christina; Weber, Bernhard H. F.
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Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers
err2020-12-29
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errBorde, Julika; Ernst, Corinna; Wappenschmidt, Barbara; Niederacher, Dieter; Weber-Lassalle, Konstantin; Schmidt, Gunnar; Hauke, Jan; Quante, Anne S.; Weber-Lassalle, Nana; Horvath, Judit; Pohl-Rescigno, Esther; Arnold, Norbert; Rump, Andreas; Gehrig, Andrea; Hentschel, Julia; Faust, Ulrike; Dutrannoy, Veronique; Meindl, Alfons; Kuzyakova, Maria; Wang-Gohrke, Shan; Weber, Bernhard H. F.; Sutter, Christian; Volk, Alexander E.; Giannakopoulou, Olga; Lee, Andrew; Engel, Christoph; Schmidt, Marjanka K.; Antoniou, Antonis C.; Schmutzler, Rita K.; Kuchenbaecker, Karoline; Hahnen, Eric
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Altered Protein Function Caused by AMD-associated Variant rs704 Links Vitronectin to Disease Pathology
err2020-12-01
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errBiasella, Fabiola; Ploessl, Karolina; Karl, Claudia; Weber, Bernhard H. F.; Friedrich, Ulrike
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Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration
errCELLS
IF5.2
err2020-10-10
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errStrunz, Tobias; Kiel, Christina; Sauerbeck, Bastian L.; Weber, Bernhard H. F.
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A mega-analysis of expression quantitative trait loci in retinal tissue
err2020-09-01
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errStrunz, Tobias; Kiel, Christina; Grassmann, Felix; Ratnapriya, Rinki; Kwicklis, Madeline; Karlstetter, Marcus; Fauser, Sascha; Arend, Nicole; Swaroop, Anand; Langmann, Thomas; Wolf, Armin; Weber, Bernhard H. F.
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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
err2020-07-01
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errKhan, Mubeen; Cornelis, Stephanie S.; Del Pozo-Valero, Marta; Whelan, Laura; Runhart, Esmee H.; Mishra, Ketan; Bults, Femke; AlSwaiti, Yahya; AlTalbishi, Alaa; De Baere, Elfride; Banfi, Sandro; Banin, Eyal; Bauwens, Miriam; Ben-Yosef, Tamar; Boon, Camiel J. F.; van den Born, L. Ingeborgh; Defoort, Sabine; Devos, Aurore; Dockery, Adrian; Dudakova, Lubica; Fakin, Ana; Farrar, G. Jane; Sallum, Juliana Maria Ferraz; Fujinami, Kaoru; Gilissen, Christian; Glavac, Damjan; Gorin, Michael B.; Greenberg, Jacquie; Hayashi, Takaaki; Hettinga, Ymkje M.; Hoischen, Alexander; Hoyng, Carel B.; Hufendiek, Karsten; Jaegle, Herbert; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Kousal, Bohdan; Lamey, Tina M.; MacDonald, Ian M.; Matynia, Anna; McLaren, Terri L.; Mena, Marcela D.; Meunier, Isabelle; Miller, Rianne; Newman, Hadas; Ntozini, Buhle; Oldak, Monika; Pieterse, Marc; Podhajcer, Osvaldo L.; Puech, Bernard; Ramesar, Raj; Ruether, Klaus; Salameh, Manar; Salles, Mariana Vallim; Sharon, Dror; Simonelli, Francesca; Spital, Georg; Steehouwer, Marloes; Szaflik, Jacek P.; Thompson, Jennifer A.; Thuillier, Caroline; Tracewska, Anna M.; van Zweeden, Martine; Vincent, Andrea L.; Zanlonghi, Xavier; Liskova, Petra; Stoehr, Heidi; Roach, John N. De; Ayuso, Carmen; Roberts, Lisa; Weber, Bernhard H. F.; Dhaenens, Claire-Marie; Cremers, Frans P. M.
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