Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders Article

International Collaboration

author list

  • O'Grady, Lauren; Schrier Vergano, Samantha A.; Hoffman, Trevor L.; Sarco, Dean; Cherny, Sara; Bryant, Emily; Schultz-Rogers, Laura; Chung, Wendy K.; Sacharow, Stephanie; Immken, Ladonna L.; Holder, Susan; Blackwell, Rebecca R.; Buchanan, Catherine; Yusupov, Roman; Lecoquierre, Francois; Guerrot, Anne-Marie; Rodan, Lance; de Vries, Bert B. A.; Kamsteeg, Erik Jan; Santos Simarro, Fernando; Palomares-Bralo, Maria; Brown, Natasha; Pais, Lynn; Ferrer, Alejandro; Klee, Eric W.; Babovic-Vuksanovic, Dusica; Rhodes, Lindsay; Person, Richard; Begtrup, Amber; Keller-Ramey, Jennifer; Santiago-Sim, Teresa; Schnur, Rhonda E.; Sweetser, David A.; Gold, Nina B.

publication date

  • May 11, 2022

webpage

category

keywords

  • autism
  • exome sequencing
  • neurodevelopmental disabilities
  • retinitis pigmentosa