• <em>TXNL4A</em>-Related Craniofacial Disorders
• A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?
• A review of craniofacial disorders caused by spliceosomal defects
• Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings
• Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome
• Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome
• Hepatocellular Adenoma in an Infant With Burn-McKeown Syndrome: Report of a Case
• Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
• Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells
• Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome
• Severe intellectual disability in a patient with Burn-McKeown syndrome
• Spliceosomopathies and neurocristopathies: Two sides of the same coin?
• The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development
• The Role of the U5 snRNP in Genetic Disorders and Cancer
• Two brothers with Burn-McKeown syndrome