| Kuechler A et. al., Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition., Eur J Hum Genet, 2017 |
| Balasubramanian M et. al., Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with <i>de novo</i>, heterozygous, loss-of-function mutations in <i>ASXL3</i> and review of published literature., J Med Genet, 2017 |
| 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 |
| Dillon OJ et. al., Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders., Eur J Hum Genet, 2018 |
| Srivastava S et. al., Clinical whole exome sequencing in child neurology practice., Ann Neurol, 2014 |
| Zhu X et. al., Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios., Genet Med, 2015 |
| Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019 |
| Dinwiddie DL et. al., De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies., BMC Med Genomics, 2013 |
| Guo H et. al., Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model., Mol Autism, 2018 |
| Wayhelova M et. al., Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay., Mol Med Rep, 2019 |
| Verhoeven W et. al., Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in <i>ASXL3</i> shows overlap with the associated Bainbridge-Ropers syndrome., Neuropsychiatr Dis Treat, 2018 |
| Chinen Y et. al., Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in <i>ASXL3</i>., Clin Case Rep, 2018 |
