Jonathan J Rios

Minimum Information about a Genotyping Experiment (MIGEN)

R. Scheuermann, A. Pertsemlidis, P. Robinson, 2010, Standards in genomic sciences.

Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology

Jonathan C. Cohen, H. Hobbs, C. Xing, 2012, Hepatology.

DNA polymerase-α regulates type I interferon activation through cytosolic RNA:DNA synthesis

Nan Yan, A. Zinn, H. Mussaffi, 2016, Nature Immunology.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Martin A. M. Reijns, J. Rosenfeld, Sancha Martin, 2018, American journal of human genetics.

Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice

R. Hammer, B. Beutler, C. Ferreira, 2021, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Biallelic variants in RNU12 cause CDAGS syndrome

M. Shinawi, Richard C. Wang, A. Irvine, 2021, Human mutation.

SCGN deficiency results in colitis susceptibility

Jason Y. Park, S. Harrison, M. Kathania, 2019, eLife.