PMID 24044690 2013 De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
PMID 23383720 2013 De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
PMID 26647312 2016 De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.
PMID 27901041 2017 Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
PMID 28100473 2017 Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
PMID 24044690 2013 De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
PMID 28100473 2017 Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
PMID 23383720 2013 De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.
PMID 27901041 2017 Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
PMID 26647312 2016 De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.