Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay

[1]  Marni J. Falk,et al.  KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants , 2018, Genetics in Medicine.

[2]  Yongwook Choi,et al.  PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels , 2015, Bioinform..

[3]  Anna Lindstrand,et al.  Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. , 2015, American journal of human genetics.

[4]  Joshua L. Deignan,et al.  De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. , 2015, American journal of human genetics.

[5]  J. Moeschler,et al.  Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays , 2014, Pediatrics.

[6]  Xiang-Jiao Yang,et al.  Crosstalk between epigenetic readers regulates the MOZ/MORF HAT complexes , 2014, Epigenetics.

[7]  Jing Hu,et al.  SIFT web server: predicting effects of amino acid substitutions on proteins , 2012, Nucleic Acids Res..

[8]  R. Montiel,et al.  The (CAG)n tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls , 2010, European Journal of Human Genetics.

[9]  X. Yang,et al.  MOZ and MORF, two large MYSTic HATs in normal and cancer stem cells , 2007, Oncogene.

[10]  J. Lupski,et al.  Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. , 2003, Brain : a journal of neurology.

[11]  Hal B. Jenson,et al.  Nelson Textbook of Pediatrics , 1965 .

[12]  P. Troke,et al.  MOZ fusion proteins in acute myeloid leukaemia. , 2006, Biochemical Society symposium.