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Bainbridge MN et al. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 2013;5(2):11. PMID: 23383720.

Srivastava A et al. De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. Hum Mol Genet. 2016;25(3):597-608. PMID: 26647312.

Kuechler A et al. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: A recognizable condition. Eur J Hum Genet. 2017;25(2):183-191. PMID: 27901041.

(including CNVs and structural chromosome anomalies identified by sequence-based methods such as array, WES and/or WGS)