Textdatei mit allen Artikeln
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; Aleman, Tomas s; Sylla, Mohamed M; Tsang, Stephen H; Alabek, Michelle; Sahel, Jose; Gorin, Michael B; van Genderen, Maria M; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L; Hull, Sarah; Duncan, Jacque L; Hanson, James V M; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A; Yang, Paul; Pennesi, Mark E (2025).
Variants in CFAP410 cause a range of retinal and skeletal phenotypes.
PMID: 40246852, PMCID: PMC12006490, DOI: 10.1159/000545606, S2CID: 277885817. n p j Genomic Medicine, 10(1):32. 2025, April 17. [Category: Former MEDMOLGEN].
Haenseler, Walther; Eschment, Melanie; Evans, Beth; Brasili, Marta; Figueiro-Silva, Joana; Roethlisberger, Fee; Abidi, Affef; Jackson, Darcie; Müller, Martin; Cowley, Sally A; Bachmann-Gagescu, Ruxandra (2025).
Differences in neuronal ciliation rate and ciliary content revealed by systematic imaging-based analysis of hiPSC-derived models across protocols.
DOI: 10.3389/fcell.2025.1516596, S2CID: 277763099. Frontiers in Cell and Developmental Biology, 13:1-17. 2025, April 11.
Figueiro-Silva, Joana; Eschment, Melanie; Mennel, Michelle; Abidi, Affef; Oneda, Beatrice; Rauch, Anita; Bachmann-Gagescu, Ruxandra (2025).
CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines
DOI: 10.1101/2025.03.31.646311, S2CID: 277509530, bioRxiv, Cold Spring Harbor Laboratory, 646311. 2025, April 2. [Category: Preprint].
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.
PMID: 40168954, DOI: 10.1159/000545606, S2CID: 277495644. Ophthalmologica:1-16. 2025, April, 1. Epub ahead of Print. [Category: Former MEDMOLGEN].
Schuknecht, Angelika; Wachtl, Josephine; Baumer Wolz, Alessandra; Kniestedt, Christoph (2025).
19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchsʼ Endothelial Dystrophy Including the 6th Generation in a Pedigree
PMID: 39870091, DOI: 10.1055/a-2498-0245, S2CID: 275930056, Klinische Monatsblätter für Augenheilkunde, 242(04):332-338. 2025, April 1.
Anderson, Eric N; Drukewitz, Stephan; Kour, Sukhleen; Chimata, Anuradha V; Rajan, Deepa S; Schönnagel, Senta; Stals, Karen L; Donnelly, Deirdre; O'Sullivan, Siobhan; Mantovani, John F; Tan, Tiong Y; Stark, Zornitza; Zacher, Pia; Chatron, Nicolas; Monin, Pauline; Drunat, Severine; Vial, Yoann; Latypova, Xenia; Levy, Jonathan; Verloes, Alain; Carter, Jennefer N; Bonner, Devon E; Shankar, Suma P; Bernstein, Jonathan A ; Cohen, Julie S; Comi, Anne; Alexis Carere, Deanna; Dyer, Lisa M; Mullegama, Sureni V; Sanchez-Lara, Pedro A; Grand, Katheryn; Kim, Hyung-Goo; Ben-Mahmoud, Afif; Gospe, Sidney M; Belles, Rebecca S; Bellus, Gary; Lichtenbelt, Klaske D; Oegema, Renske; Rauch, Anita; Ivanovski, Ivan; Tran Mau-Them, Frederic; Garde, Aurore; Rabin, Rachel; Pappas, John; Bley, Annette E; Bredow, Janna; Wagner, Timo; Decker, Eva; Bergmann, Carsten; Domenach, Louis;Margot; Henri; Undiagnosed Diseases Network; Lemke, Johannes R; Abou Jamra, Rami; Hentschel, Julia; Mefford, Heather; Singh, Amit; Bhan Pandey, Udai; Platzer, Konrad (2025).
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
PMID: 40236430, PMCID: PMC11998838, DOI: 10.1101/2025.03.31.25324695, medRxiv 2025.03.31.25324695. 2025, March 31. [Category: Preprint].
Maggi, Kevin (2025).
Investigating the Role of Norrin in Neuroretinal Development.
DOI: 10.5167/uzh-276556. Dissertation (cumulative). University of Zurich, Faculty of Science. 2025, March 27. [Category: Former MEDMOLGEN].
Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Céline; Alders, Mariëlle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogné, Benjamin; Cormier-Daire, Valérie; Delanne, Julian; Demaret, Tanguy; Denommé-Pichon, Anne-Sophie; Desir, Julie; Dubourg, Christèle; Fradin, Mélanie; Geneviève, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W; Guichet, Agnès; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; McConkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clément; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W. E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frederic Tran; Trost, Detlef; Van der Sluijs, Pleuntje J.; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle (2025). ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
PMID: 40044822, DOI: 10.1038/s41431-025-01798-w, S2CID: 276810567. European Journal of Human Genetics:1-10. 2025, March 5. Epub ahead of print.
Yusifov, Elkhan; Schaettin, Martina; Dumoulin, Alexandre; Bachmann-Gagescu, Ruxandra; Stoeckli, Esther T (2025).
The primary cilium gene CPLANE1 is required for peripheral nervous system development.
PMID: 39694173, DOI: 10.1016/j.ydbio.2024.12.008, S2CID: 274804813. Developmental Biology, 519:106-121. 2025, March 5.
Cheerie, David; Meserve, Margaret M; Beijer, Danique; Kaiwar, Charu; Newton, Logan; Taylor Tavares, Ana Lisa; Verran, Aubrie Soucy; Sherrill, Emma; Leonard, Stefanie; Sanders, Stephan J; Blake, Emily; Elkhateeb, Nour; Gandhi, Aastha; Liang, Nicole S Y; Morgan, Jack T; Verwillow, Anna; Verheijen, Jan; Giles, Andrew; Williamson, Sean R; Chopra, Maya; Croft, Laura; Dafsari, Hormos Salimi; Davidson, Alice E; Friedman, Jennifer; Gregor, Anne; Haque, Bushra; Lechner, Rosan; Montgomery, Kylie-Ann; Ryten, Mina; Schober, Emil; Siegel, Gabriele; Sullivan, Patricia; Whittle, Ella F; Zardetto, Bianca; Yu, Timothy W; Synofzik, Matthis; Aartsma-Rus, Annemieke; Costain, Gregory; Lauffer, Marlen C; Collaborative, N1 (2025). Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
PMID: 40139194, DOI: 10.1016/j.ajhg.2025.02.017, S2CID: 277372033. American Journal of Human Genetics, 112:1-9. 2025, March 1. Epub ahead of print.
Scaccini, Sara; Cesaroni, Carlo Alberto; Caraffi, Stefano Giuseppe; Rizzi, Susanna; Rosato, Simonetta; Peluso, Francesca; Spagnoli, Carlotta; Cavalli, Anna; Brugnoli, Chiara; Scandolo, Giulia; Pantani, Agnese; Ivanovski, Ivan; Garavelli, Livia; Frattini, Daniele; Fusco, Carlo (2025).
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.
PMID: 39992398, DOI: 10.1007/s10048-025-00815-w, S2CID: 276567642. Neurogenetics, 26(1):32. 2025, February 24.
Zech, Michael; Dzinovic, Ivana; Škorvánek, Matej; Harrer, Philip; Necpál, Ján; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovičová, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie; Brunet, Theresa; Cogné, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix; Eckenweiler, Matthias; Garavaglia, Barbara; Geerlof, Arie; Graf, Elisabeth; Hackenberg, Annette; Harvanova, Denisa; Haslinger, Bernhard; Havránková, Petra; Hoffmann, Georg F; Janzarik, Wibke G; Keren, Boris; Kolnikova, Miriam; Kolokotronis, Konstantinos; Kosutzka, Zuzana; Koy, Anne; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo; Mourao, Andre Santos Dias; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam; Pavlov, Martin; Příhodová, Iva; Rektorova, Irena; Romito, Luigi M; Rybanska, Barbora; Sadr-Nabavi, Ariane; Schwenger, Susanne; Shoeibi, Ali; Sitzberger, Alexandra; Smirnov, Dmitrii; Svantnerova, Jana; Tautanova, Raushana; Toelle, Sandra P; Ulmanová, Olga; Vetrini, Francesco; Vill, Katharina; Wagner, Matias; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara; Prokisch, Holger; Jech, Robert; Winkelmann, Juliane (2025).
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
PMID: 39937650, DOI: 10.1093/brain/awaf059, S2CID: 276315263. Brain: a Journal of Neurology, awaf059:(1-54). 2025, February 12.
Zjacic, Nicolina (2025).
Towards a Prenatal Diagnostic Pipeline for Variants of Unknown Significance in Noonan Syndrome Genes.
DOI: 10.5167/uzh-270768. Dissertation (monographical), University of Zurich, Faculty of Science. 2025, February 3.
Zeckanovic, Aida; Scheidegger, Nastassja K; Prader, Seraina; Thanikkel, Leo; Elgizouli, Magdeldin; Bodmer, Nicole (2025).
Pediatric Acute B‐Lymphoblastic Leukemia Presenting as Hypereosinophilia With Lung Involvement and Elevated Immunoglobulin E Levels.
PMID: 39558856, DOI: 10.1002/pbc.31461, S2CID: 274139788. Pediatric Blood & Cancer, 72(2):e31461. 2025, February.
De Hayr, Lachlan; Blok, Laura E R; Dias, Kerith-Rae M; Long, Jingyi; Begemann, Anaïs; Moir, Robyn D; Willis, Ian M; Mocera, Martina; Siegel, Gabriele; Steindl, Katharina; Evans, Carey-Anne; Zhu, Yinghao; Zhang, Futao; Field, Michael; Ma, Alan; Adès, Lesley C; Josephi-Taylor, Sarah; Pfundt, Rolph; Zaki, Maha S; Tomoum, Hoda; Gregor, Anne; Laube, Julia; Reis, André; Maddirevula, Sateesh; Hashem, Mais O; Zweier, Markus; Alkuraya, Fowzan S; Maroofian, Reza; Buckley, Michael F; Gleeson, Joseph G; Zweier, Christiane; Coll-Tané, Mireia; Koolen, David A; Rauch, Anita; Roscioli, Tony; Schenck, Annette; Harvey, Robert J (2025).
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.
PMID: 39636576, DOI: 10.1093/braincomms/fcae408, S2CID: 274526461. Genetics in Medicine, 27(1):101253. 2025, January 1.
Blackburn, Patrick R.; Ebstein, Frédéric; Hsieh, Tzung‐Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Bénédicte; Smol, Thomas; Vincent‐Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann‐Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne‐Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau‐Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, François; Zech, Michael; Prokisch, Holger; Necpál, Ján; Jech, Robert; Winkelmann, Juliane; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner‐Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P.A.; van der Schoot, Vyne; Brunet, Theresa; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, René G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez‐Lara, Pedro A.; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Küry, Sébastien; Wang, Tianyun (2025).
Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
PMID: 39301775, DOI: 10.1002/ana.27077, S2CID: 259171704, Annals of Neurology, 97(1):76-89. 2025, January 1.
Bürger, Olga; Humbel, Angelika; Ivanovski, Ivan; Baumer, Alessandra; Rauch, Anita (2025).
Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48.
PMID:39158144, DOI: 10.1002/ajmg.a.63842, S2CID: 71896500, American Journal of Human Genetics, Part A, 197(1):e63842. 2025, January.