Associated Papers
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Watkins WS et al.
Nature Communications, 2019
31624253 (PubMed )
Supplement: 41467_2019_12582_MOESM3_ESM.xlsx › SuppData2.Damaged_genes
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C et al.
Human Molecular Genetics, 2018
29300972 (PubMed )
Supplement: supplementary_material_ddx435.pdf
Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.
Parcerisas A et al.
Journal of Alzheimer's Disease : Jad, 2014
25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P8C
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