Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Fabian Brand, Luisa Averdunk 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
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
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Florian Kraft, Magdalena Danyel et al.|RWTH Publications (RWTH Aachen)|2025Cited by 0
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological featuresMarina Boon, Bert BA de Vries, Meghan R. Mulligan et al.|The American Journal of Human Genetics|2026Cited by 0