Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range
Stacy G. Guzman, Sarah McKeown Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan, Zornitza Stark, Natasha J. Brown, Sajel Lala Kana, Anabelle Tuttle, Jair Antonio Tenorio, Pablo Daniel Lapunzina, Julián B. Nevado, Marie McDonald, Courtney Jensen, , Ingo Helbig
The paper identifies BSN variants as a cause of a new neurodevelopmental disorder with a broad phenotypic range, using clinical data and computational phenotyping.
medRxiv · Feb 10, 2025 · PreprintGenetic & Genomic Medicine