Home
Publikationen - Publications
Unterseiten anzeigen
Unterseiten-Menü schliessen
ZORA Publikationsliste
Publikationen
Schmidt, Ryan E; Pohodich, Amy E; Birch, David; Jones, Kaylie; Lam, Byron L; Jung, Emily H; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C; Heon, Elise; Scholl, Hendrik P N; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I; Zein, Wadih; Brooks, Brian P; Cukras, Catherine; Hufnagel, Robert; Hanson, James V M; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; et al (2025).
Variants in CFAP410 cause a range of retinal and skeletal phenotypes.
n p j Genomic Medicine, 10(1):32.
Foa, Nastasia; Pfau, Maximilian; Ansari, Georg; Cancian, Giuseppe; Grimaldi, Gabriela; Koller, Samuel; Berger, Wolfgang; Escher, Pascal; Janeschitz-Kriegl, Lucas; Rivolta, Carlo; Scholl, Hendrik P N; Menghini, Moreno (2025).
Autosomal dominant RP1 c.2613dupA (p.Arg872Thrfs*2) variant retinitis pigmentosa shows linear loss of the ellipsoid zone over time with highly variable phenotype.
Ophthalmologica, 248(3):175-184.
Groeneweg, Stefan; Zevenbergen, Chantal; Lima de Souza, Elaine C; van Geest, Ferdy S; Kloeckener-Gruissem, Barbara; Laczko, Endre; Camargo, Simone M R; Meima, Marcel E; Peeters, Robin P; Visser, W Edward (2024).
Identification of Iodotyrosines as Novel Substrates for the Thyroid Hormone Transporter MCT8.
Thyroid, 34(7):931-941.
Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stéphanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane; Abramowicz, Marc; Berger, Wolfgang; Cichon, Sven; Schaller, André; Superti-Furga, Andrea; Barbié, Valérie; Rauch, Anita (2024).
SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.
Journal of Personalized Medicine, 14(6):648.
Jeltsch, Brida M; Sarraf, David; Madjdpour, Darius; Hanson, James V M; Pfiffner, Fatma K; Koller, Samuel; Berger, Wolfgang; Barthelmes, Daniel; Al-Sheikh, Mayss (2024).
Rapid onset hydroxychloroquine toxicity.
Retinal Cases & Brief Reports, 18(3):351-354.
Pauzuolyte, Valda; Patel, Aara; Wawrzynski, James R; Ingham, Neil J; Leong, Yeh Chwan; Karda, Rajvinder; Bitner‐Glindzicz, Maria; Berger, Wolfgang; Waddington, Simon N; Steel, Karen P; Sowden, Jane C (2023).
Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.
EMBO Molecular Medicine, 15(10):e17393.
Koller, Samuel; Beltraminelli, Tim; Maggi, Jordi; Wlodarczyk, Agnès; Feil, Silke; Baehr, Luzy; Gerth-Kahlert, Christina; Menghini, Moreno; Berger, Wolfgang (2023).
Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa.
Genes, 14(4):934.
Reurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A; Ten Brink, Jacoline B; Klaver, Caroline C W; Tranebjærg, Lisbeth; Rendtorff, Nanna D; Vermeer, Sascha; Smits, Jeroen J; et al (2023).
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Human Genetics and Genomics Advances, 4(2):100181.
Stafki, Seth A; Turner, Johnnie; Littel, Hannah R; Bruels, Christine C; Truong, Don; Knirsch, Ursula; Stettner, Georg M; Graf, Urs; Berger, Wolfgang; Kinali, Maria; Jungbluth, Heinz; Pacak, Christina A; Hughes, Jayne; Mirchi, Amytice; Derksen, Alexa; Vincent-Delorme, Catherine; Theil, Arjan F; Bernard, Geneviève; Ellis, David; Fassihi, Hiva; Lehmann, Alan R; Laugel, Vincent; Mohammed, Shehla; Kang, Peter B (2023).
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Pediatric Neurology, 141:79-86.
de Bruijn, Suzanne E; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S; Berger, Wolfgang; et al (2023).
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Genetics in Medicine, 25(3):100345.
Seitennummerierung
Disclaimer: on the specification of authors in ZORA
In the above list, publications with fewer than 30 authors are transferred 1:1 to ZORA . No author names are deleted. --> Reason: complete metadata per publication, also for further use (e.g. in Swisscovery).
For publications with more (>30) authors, the authors are automatically truncated to the number 30 during import. An "et al" is created in the same step. If UZH authors are omitted as a result, they are added at the end, after "et al".
More information: Varia | University Library Zurich | UZH
For the complete list of authors in order of publication, please use the text file on this website or the original publication on ZORA.
Quicklinks und Sprachwechsel
Bild Overlay schliessen
[%=content%]
[%=content%]
[%=content%]
[%=text%]