Journal article

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Clare Logan, Jennie E Murray, David A Parry, Andrea Robertson, Roberto Bellelli, Zygimante Tarnauskaite, Rachel Challis, Louise Cleal, Valerie Bore, Adeline Fluteau, Javier Santoyo-Lopez, Tim Aitman, Ines Barroso, Donald Basel, Louise S Bicknell, Himanshu Goe, Hao Hu, Chad Huff, Michele Hutchison, Caroline Joyce Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2018

Grants

Awarded by European Research Council ERC Starter Grant HumGenSize


Awarded by ERC


Awarded by UK Medical Research Council Human Genetics Unit core grant (MRC)


Awarded by National Center for Advancing Translational Sciences of the National Institutes of Health


Awarded by Cancer Research UK


Awarded by UK Medical Research Council


Awarded by Wellcome Trust


Awarded by Chief Scientist Office of the Scottish Government Health Directorates


Funding Acknowledgements

We thank the families and clinicians for their involvement and participation; the Potentials Foundation and Walking with Giants Foundation; D. Fitzpatrick, N. Hastie, and W. Bickmore for discussions; E. Freyer for assistance with FACS analysis; IGMM core sequencing service; and Edinburgh Genomics (Clinical Division) for WGS sequencing. We thank Penny Jeggo for sharing cell lines. This work was supported by funding to the Jackson lab from European Research Council ERC Starter Grant HumGenSize, 281847; ERC Advanced Investigator Grant GrowCell, 788093; by a UK Medical Research Council Human Genetics Unit core grant (MRC, U127580972), and the Scottish Genomes Partnership. The Rios lab is supported by Texas Scottish Rite Hospital for Children and the Children's Medical Center Foundation. Research reported in this publication was supported by the National Center for Advancing Translational Sciences of the National Institutes of Health under award number UL1TR001105. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. Boulton lab work is supported by the Francis Crick Institute, which receives its core funding from Cancer Research UK (FC0010048), the UK Medical Research Council (FC0010048), and the Wellcome Trust (FC0010048); a European Research Council (ERC) Advanced Investigator Grant (TelMetab); and Wellcome Trust Senior Investigator and Collaborative Grants. R.K.S. is funded by the Wellcome Trust (210752/Z/18/Z). The Scottish Genomes Partnership is funded by the Chief Scientist Office of the Scottish Government Health Directorates (SGP/1) and The Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative.