Margaret J. McMillin

TL;DR: The results strongly suggest that mutations in MLL2, which encodes a Trithorax-group histone methyltransferase, are a major cause of Kabuki syndrome.

TL;DR: This collaborative effort has identified 956 genes, including 375 not previously associated with human health, that underlie a Mendelian phenotype, providing insight into study design and analytical strategies, identify novel mechanisms of disease, and reveal the extensive clinical variability of Mendelia phenotypes.

TL;DR: Findings indicate that GS, DA5, and MWS have traditionally been considered separate disorders, are etiologically related and perhaps represent variable expressivity of the same condition.

TL;DR: It is found that mutations in SF3B4, a component of the U2 pre-mRNA spliceosomal complex, cause Nager syndrome and this work highlights the synergistic potential of international collaboration when exome sequencing is applied in the search for genes responsible for rare Mendelian phenotypes.

TL;DR: Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome and identified 14 mutations predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments.