Associated Papers
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
Lahrouchi N et al.
The Journal of Clinical Investigation, 2021
Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations.
Brown D et al.
Nature Communications, 2017
28429735 (PubMed )
Supplement: ncomms14944-s4.xlsx › Patient__10_80
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7
Whole-exome sequencing of Finnish hereditary breast cancer families.
Määttä K et al.
European Journal of Human Genetics : Ejhg, 2016
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.
Parker SC et al.
Plos Genetics, 2012
22912592 (PubMed )
Supplement: pgen.1002871.s018.xls › cellCulture
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