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

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

(2018) Joanna Kennedy et al.   GENETICS IN MEDICINE

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

(2015) Emma Tham et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

(2015) Valerie A. Arboleda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays

(2014) J. B. Moeschler et al.   PEDIATRICS

Crosstalk between epigenetic readers regulates the MOZ/MORF HAT complexes

(2013) Brianna J Klein et al.   Epigenetics

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

The (CAG)n tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls

(2009) Conceição Bettencourt et al.   EUROPEAN JOURNAL OF HUMAN GENETICS