1 Clayton-Smith J, "Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome" 89 : 675-681, 2011
2 Campeau PM, "The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms" 33 : 1520-1525, 2012
3 Gannon T, "Further delineation of the KAT6B molecular and phenotypic spectrum" 23 : 1165-1170, 2015
4 Kraft M, "Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice" 121 : 3479-3491, 2011
5 Simpson MA, "De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome" 90 : 290-294, 2012
6 Yang Y, "Clinical whole-exome sequencing for the diagnosis of Mendelian disorders" 369 : 1502-1511, 2013
7 Moeschler JB, "Clinical genetic evaluation of the child with mental retardation or developmental delays" 117 : 2304-2316, 2006
8 Nagy E, "A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance" 23 : 198-199, 1998
9 Yilmaz R, "A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing" 167A : 3006-3010, 2015
10 Vlckova M, "A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes" 58 : 550-555, 2015
1 Clayton-Smith J, "Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome" 89 : 675-681, 2011
2 Campeau PM, "The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms" 33 : 1520-1525, 2012
3 Gannon T, "Further delineation of the KAT6B molecular and phenotypic spectrum" 23 : 1165-1170, 2015
4 Kraft M, "Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice" 121 : 3479-3491, 2011
5 Simpson MA, "De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome" 90 : 290-294, 2012
6 Yang Y, "Clinical whole-exome sequencing for the diagnosis of Mendelian disorders" 369 : 1502-1511, 2013
7 Moeschler JB, "Clinical genetic evaluation of the child with mental retardation or developmental delays" 117 : 2304-2316, 2006
8 Nagy E, "A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance" 23 : 198-199, 1998
9 Yilmaz R, "A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing" 167A : 3006-3010, 2015
10 Vlckova M, "A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes" 58 : 550-555, 2015