Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2020

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Berber, P. and Milenkovic, A. and Brandl, C. and Weber, B. H. F. (2020) Patient-derived retinal organoids to model retinitis pigmentosa 1 (RP1). In: 53rd European Society of Human Genetics (ESHG) Conference, June 6–9, 2020, Virtuell.

Biasella, Fabiola and Ploessl, Karolina and Karl, Claudia and Weber, Bernhard H. F. and Friedrich, Ulrike (2020) Altered Protein Function Caused by AMD-associated Variant rs704 Links Vitronectin to Disease Pathology. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 61 (14): 2. ISSN 0146-0404, 1552-5783

Bosse, K. and Faust, U. and Gruber, I. and Habhab, W. and Guenther, G. and Siebers-Renelt, U. and Kiechle, M. and Speiser, D. and Dikow, N. and Kast, K. and Arnold, N. and Vesper, A.-S. and Harbeck, N. and Briest, S. and Thomssen, C. and Gehrig, A. and Wallaschek, H. and Solbach, C. and Wolf, M. and Witzel, I. and Holzhauser, I. and Kaulfuss, S. and Janni, W. and Engel, C. and Riess, O. and Schmutzler, R. and Schroeder, C. (2020) Clinical-pathological Characterization of 1078 Advice Seekers with pathogenic CHEK2 Mutation from the German Consortium of Familial Breast and Ovarian Cancer (DK-FBREK). In: 40. Jahrestagung der Deutschen Gesellschaft für Senologie e.V., 25.-27.06.2020, Congress Center München.

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Dadak, Mete and Pul, Refik and Lanfermann, Heinrich and Hartmann, Hans and Hehr, Ute and Donnerstag, Frank and Michels, Dirk and Tryc, Anita Blanka (2020) Varying Patterns of CNS Imaging in Influenza A Encephalopathy in Childhood. CLINICAL NEURORADIOLOGY, 30 (2). pp. 243-249. ISSN 1869-1439, 1869-1447

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Grassmann, Felix and Weber, Bernhard H. F. and Veitia, Reiner A. (2020) Insights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genotyping microarray data. HUMAN GENETICS, 139 (3). pp. 401-407. ISSN 0340-6717, 1432-1203

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Habhab, W. and Faust, U. and Guenther, G. and Siebers-Renelt, U. and Kiechle, M. and Ott, C. and Dikow, N. and Kast, K. and Vesper, A. and Solbach, C. and Harbeck, N. and Stiller, M. and Gehrig, A. and Thomssen, C. and Wallaschek, H. and Arnold, N. and Holzhauser, I. and Kaulfuss, S. and Volk, A. and Janni, W. and Engel, C. and Schmutzler, R. and Riess, O. and Schroeder, C. and Bosse, K. (2020) Clinical and molecular characterization of 1253 carriers of a deleterious CHEK2 mutation from the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). In: 53rd European Society of Human Genetics (ESHG) Conference, June 6–9, 2020, Virtuell.

Hufendiek, Karsten and Hufendiek, Katerina and Jaegle, Herbert and Stoehr, Heidi and Book, Marius and Spital, Georg and Rustambayova, Guenay and Framme, Carsten and Weber, Bernhard H. F. and Renner, Agnes B. and Kellner, Ulrich (2020) Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 21 (24): 9353. ISSN 1422-0067

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Kellner, Simone and Stoehr, Heidi and Weinitz, Silke and Farmand, Ghazaleh and Weber, Bernhard H. F. and Kellner, Ulrich (2020) Long-term follow-up and variable progression of ocular signs in two sisters with AHI1-gene associated Joubert syndrome. In: Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO), MAY 01-07, 2020, ELECTR NETWORK.

Kellner, Ulrich and Stoehr, Heidi and Kellner, Simone and Weinitz, Silke and Farmand, Ghazaleh and Weber, Bernhard H. F. (2020) Variation of Clinical Findings in Choroideremia Carriers - From normal to severe. In: Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology (ARVO), MAY 01-07, 2020, ELECTR NETWORK.

Khan, Mubeen and Cornelis, Stephanie S. and Del Pozo-Valero, Marta and Whelan, Laura and Runhart, Esmee H. and Mishra, Ketan and Bults, Femke and AlSwaiti, Yahya and AlTalbishi, Alaa and De Baere, Elfride and Banfi, Sandro and Banin, Eyal and Bauwens, Miriam and Ben-Yosef, Tamar and Boon, Camiel J. F. and van den Born, L. Ingeborgh and Defoort, Sabine and Devos, Aurore and Dockery, Adrian and Dudakova, Lubica and Fakin, Ana and Farrar, G. Jane and Sallum, Juliana Maria Ferraz and Fujinami, Kaoru and Gilissen, Christian and Glavac, Damjan and Gorin, Michael B. and Greenberg, Jacquie and Hayashi, Takaaki and Hettinga, Ymkje M. and Hoischen, Alexander and Hoyng, Carel B. and Hufendiek, Karsten and Jaegle, Herbert and Kamakari, Smaragda and Karali, Marianthi and Kellner, Ulrich and Klaver, Caroline C. W. and Kousal, Bohdan and Lamey, Tina M. and MacDonald, Ian M. and Matynia, Anna and McLaren, Terri L. and Mena, Marcela D. and Meunier, Isabelle and Miller, Rianne and Newman, Hadas and Ntozini, Buhle and Oldak, Monika and Pieterse, Marc and Podhajcer, Osvaldo L. and Puech, Bernard and Ramesar, Raj and Ruether, Klaus and Salameh, Manar and Salles, Mariana Vallim and Sharon, Dror and Simonelli, Francesca and Spital, Georg and Steehouwer, Marloes and Szaflik, Jacek P. and Thompson, Jennifer A. and Thuillier, Caroline and Tracewska, Anna M. and van Zweeden, Martine and Vincent, Andrea L. and Zanlonghi, Xavier and Liskova, Petra and Stoehr, Heidi and Roach, John N. De and Ayuso, Carmen and Roberts, Lisa and Weber, Bernhard H. F. and Dhaenens, Claire-Marie and Cremers, Frans P. M. (2020) Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. GENETICS IN MEDICINE, 22 (7). pp. 1235-1246. ISSN 1098-3600, 1530-0366

Kiel, Christina and Berber, Patricia and Karlstetter, Marcus and Aslanidis, Alexander and Strunz, Tobias and Langmann, Thomas and Grassmann, Felix and Weber, Bernhard H. F. (2020) A Circulating MicroRNA Profile in a Laser-Induced Mouse Model of Choroidal Neovascularization. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 21 (8): 2689. ISSN 1422-0067

Kiel, Christina and Strunz, Tobias and Blanton, Susan and Grassmann, Felix and Weber, Bernhard H. F. (2020) Pleiotropic Locus 15q24.1 Reveals a Gender-Specific Association with Neovascular but Not Atrophic Age-Related Macular Degeneration (AMD). CELLS, 9 (10): 2257. ISSN 2073-4409

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Milenkovic, Andrea and Brandl, Caroline and Nachtigal, Anna-Lena and Kellner, Ulrich and Weber, Bernhard H. F. (2020) Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 237 (3). pp. 259-266. ISSN 0023-2165, 1439-3999

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Nachtigal, Anna-Lena and Milenkovic, Andrea and Brandl, Caroline and Schulz, Heidi L. and Duerr, Lisa M. J. and Lang, Gabriele E. and Reiff, Charlotte and Herrmann, Philipp and Kellner, Ulrich and Weber, Bernhard H. F. (2020) Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 21 (5): 1597. ISSN 1422-0067

Nasser, Fadi and Kempf, Melanie and Kurtenbach, Anne and Stoehr, Heidi and Weber, Bernhard H. F. and Neuhaus, Christine and Rating, Philipp and Zrenner, Eberhart (2020) Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation. OPHTHALMIC RESEARCH, 63 (2). pp. 141-151. ISSN 0030-3747, 1423-0259

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Oegema, R. and Barakat, T. and Bahi-Buisson, N. and Aronica, E. and Conti, V. and Zaki, M. and Dobyns, W. and Fry, A. and Geis, T. and Andres, D. Gomez and Guerrini, R. and Hehr, U. and Jansen, A. and Leventer, R. and Amron, D. and Mirzaa, G. and Parrini, E. and Pilz, D. and Said, E. and Soler, D. and Stouffs, K. and Valor, L. M. and Reiner, O. and Pogledic, I. and Wilke, M. and Mancini, G. M. S. and Di Donato, N. (2020) Malformations of cortical development: international consensus recommendations on diagnostic work-up. In: 53rd European Society of Human Genetics (ESHG) Conference, June 6–9, 2020, Virtuell.

Oegema, Renske and Barakat, Tahsin Stefan and Wilke, Martina and Stouffs, Katrien and Amrom, Dina and Aronica, Eleonora and Bahi-Buisson, Nadia and Conti, Valerio and Fry, Andrew E. and Geis, Tobias and Gomez Andres, David and Parrini, Elena and Pogledic, Ivana and Said, Edith and Soler, Doriette and Valor, Luis M. and Zaki, Maha S. and Mirzaa, Ghayda and Dobyns, William B. and Reiner, Orly and Guerrini, Renzo and Pilz, Daniela T. and Hehr, Ute and Leventer, Richard J. and Jansen, Anna C. and Mancini, Grazia M. S. and Di Donato, Nataliya (2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. NATURE REVIEWS NEUROLOGY, 16 (11). pp. 618-635. ISSN 1759-4758, 1759-4766

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Paul, Luisa and Rupprich, Katrin and Della Marina, Adela and Stein, Anja and Elgizouli, Magdeldin and Kaiser, Frank J. and Schweiger, Bernd and Koeninger, Angela and Iannaccone, Antonella and Hehr, Ute and Koelbel, Heike and Roos, Andreas and Schara-Schmidt, Ulrike and Kuechler, Alma (2020) Further evidence forPOMKas candidate gene for WWS with meningoencephalocele. ORPHANET JOURNAL OF RARE DISEASES, 15 (1): 242. ISSN 1750-1172

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Runhart, Esmee H. and Khan, Mubeen and Cornelis, Stephanie S. and Roosing, Susanne and Del Pozo-Valero, Marta and Lamey, Tina M. and Liskova, Petra and Roberts, Lisa and Stoehr, Heidi and Klaver, Caroline C. W. and Hoyng, Carel B. and Cremers, Frans P. M. and Dhaenens, Claire-Marie (2020) Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease. JAMA OPHTHALMOLOGY, 138 (10). pp. 1035-1042. ISSN 2168-6165, 2168-6173

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Schmid, Verena and Ploessl, Karolina and Schmid, Carina and Bernklau, Sarah and Weber, Bernhard H. F. and Friedrich, Ulrike (2020) Retinoschisin and Cardiac Glycoside Crosstalk at the Retinal Na/K-ATPase. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 61 (5): 1. ISSN 0146-0404, 1552-5783

Strunz, Tobias and Kiel, Christina and Grassmann, Felix and Ratnapriya, Rinki and Kwicklis, Madeline and Karlstetter, Marcus and Fauser, Sascha and Arend, Nicole and Swaroop, Anand and Langmann, Thomas and Wolf, Armin and Weber, Bernhard H. F. (2020) A mega-analysis of expression quantitative trait loci in retinal tissue. PLOS GENETICS, 16 (9): e1008934. ISSN 1553-7404

Strunz, Tobias and Kiel, Christina and Sauerbeck, Bastian L. and Weber, Bernhard H. F. (2020) Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration. CELLS, 9 (10): 2267. ISSN 2073-4409

Strunz, Tobias and Lauwen, Susette and Kiel, Christina and den Hollander, Anneke and Weber, Bernhard H. F. (2020) A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration. SCIENTIFIC REPORTS, 10 (1): 1584. ISSN 2045-2322

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Winkler, Thomas W. and Grassmann, Felix and Brandl, Caroline and Kiel, Christina and Guenther, Felix and Strunz, Tobias and Weidner, Lorraine and Zimmermann, Martina E. and Korb, Christina A. and Poplawski, Alicia and Schuster, Alexander K. and Mueller-Nurasyid, Martina and Peters, Annette and Rauscher, Franziska G. and Elze, Tobias and Horn, Katrin and Scholz, Markus and Canadas-Garre, Marisa and McKnight, Amy Jayne and Quinn, Nicola and Hogg, Ruth E. and Kuechenhoff, Helmut and Heid, Iris M. and Stark, Klaus J. and Weber, Bernhard H. F. (2020) Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease. BMC MEDICAL GENOMICS, 13 (1): 120. ISSN 1755-8794

Wolk, Alyson and Hatipoglu, Dilara and Cutler, Alecia and Ali, Mariya and Bell, Lestella and Qi, Jian Hua and Singh, Rupesh and Batoki, Julia and Karle, Laura and Bonilha, Vera L. and Wessely, Oliver and Stoehr, Heidi and Hascall, Vincent and Anand-Apte, Bela (2020) Role of FGF and Hyaluronan in Choroidal Neovascularization in Sorsby Fundus Dystrophy. CELLS, 9 (3): 608. ISSN 2073-4409

Wolk, Alyson and Upadhyay, Mala and Ali, Mariya and Suh, Jason and Stoehr, Heidi and Bonilha, Vera L. and Anand-Apte, Bela (2020) The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration. REDOX BIOLOGY, 37: 101681. ISSN 2213-2317