… Consistently, Kmt2a in mouse excitatory neurons is essential for normal … , and gene
expression of both sexes [11,12]. With male mice, we previously showed that Kmt2a-Kdm5c double …

… of the MLL/SET1 family of enzymes. We further show that DPY30 is causal for de novo …
(EOM) 56 identified two distinguishable ASH2L populations in both the D max and R g plots …

… this disease 390 trajectory, we also report atypical cases with … rare or de novo variants
450 to account for their disease. … disorders30, namely Wiedemann Steiner (KMT2A, MLL1)31, …

… at both the gene and variant levels, taking into consideration … variant in the PQBP1 gene
and led to the molecular diagnosis of RENS1. This variant was identified as a de novo mutation …

… In summary, MLL1/KMT2A control of H3K4 methylation might … In contrast, a de novo mutation
in SETD1A was associated with … Here we discuss two major forms of microcephaly (primary …

… the de novo DNAme machinery in the germ cells of both sexes has been particularly informative.
De novo … 97 , which are required for de novo DNAme in these prospermatogonia (PSG). …

… variants in KMT2A cause Wiedemann-Steiner syndrome (… individuals with pathogenic KMT2A
variants, using standardised … KMT2D is one of two genes that cause Kabuki syndrome, the …

… which disturbed both ZMIZ1 and PRR12 gene. Subsequently, the pathogenicity of PRR12 …
variant in proband and parents. The result showed that the variant in our patient was de novo (…

… KMT2A pathogenic variants and phenotypic signs of the six … , other atypical or variant forms
were described, caused in 70… for both RSTS and RTT we identified new causative genes …

… 395C>G variant identified de novo in patient 1 was a single nucleotide substitution in exon
2… (Ala132Gly) variant was identified de novo in the case sample consisting in a single …