Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Fabian Brand, Magdalena Danyel et al.|Nature Genetics|2024Cited by 49
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Bender Tim, Magdalena Danyel et al.|medRxiv|2023Cited by 15
Further delineation of the SCAF4-associated neurodevelopmental disorderCosima M. Schmid, Małgorzata J.M. Nowaczyk, Lucie Dupuis et al.|European Journal of Human Genetics|2024Cited by 5
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Fabian Brand, Magdalena Danyel et al.|Nature Genetics|2025Cited by 0