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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

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.

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.

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, e31461. 2025, February

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:1-7. 2025, January 27. Epub ahead of print.