Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D. Fountain, Loren D.M. Peña, Bertrand Isidor et al.|Genetics in Medicine|2019Cited by 83
Bioconda: A sustainable and comprehensive software distribution for the life sciencesBjörn Grüning, Jennifer Cabral, Ryan Dale et al.|bioRxiv (Cold Spring Harbor Laboratory)|2017Cited by 54
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
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