Paradigm4 Publications

11.29.2021 | Gene‑level analysis of rare variants in 379,066 whole exome sequences identifes an association of GIGYF1 loss of function with type 2 diabetes Aimee M. Deaton, Margaret M. Parker , Lucas D. Ward , Alexander O. Flynn‑Carroll , Lucas BonDurant , Gregory Hinkle , ParsaAkbari , LucaA. Lotta , Regeneron Genetics Center* , DiscovEHR Collaboration* , Aris Baras & Paul Ni » FULL ARTICLE

07.27.2021 | GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms Lucas D. Ward, et al. » FULL ARTICLE

07.20.2021 | Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank Joseph D. Szustakowsk, et. al. » FULL ARTICLE

06.02.2021 | Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry Margaret M. Parker, et. al. » FULL ARTICLE

04.27.2021 | Rare coding variants in five DNA damage repair genes associate with timing of natural menopause Lucas D. Ward, Margaret M. Parker, Aimee M. Deaton, Ho-Chou Tu, Alexander O. Flynn-Carroll, Gregory Hinkle, Paul Nioi » FULL ARTICLE

02.01.2021 | Gene-level analysis of rare variants in 363,977 whole exome sequences reveals an association of GIGYF1 loss of function with diabetes Aimee M. Deaton, Margaret M. Parker, Lucas D. Ward, Alexander O. Flynn-Carroll, Lucas BonDurant, Gregory Hinkle, Paul Nioiase » FULL ARTICLE

10.29.2020 | Phenome-wide association study of predicted loss of function variants and 34 biomarkers in 255,873 UK Biobank whole exome sequences M. M. Parker, A. Deaton, J. Liu, L. D. Ward, A. O. Flynn-Carroll, G. Hinkle, P. Nioi » FULL ARTICLE

10.29.2020 | Gene-level analysis of loss of function variants in 246,731 whole exome sequences reveals a novel association with diabetes A. Deaton, M. M. Parker, L. D. Ward, A. O. Flynn-Carroll, L. BonDurant, G. Hinkle, P. Nioi » FULL ARTICLE

10.29.2020 | Association of missense variants in the transthyretin gene with hereditary transthyretin mediated amyloidosis in 302,330 UK Biobank whole exome sequences M. Plekan, M. M. Parker, S. Ticau, L. D. Ward, A. Deaton, A. Flynn-Carroll, G. Hinkle, P. Nioi » FULL ARTICLE

05.19.2020 | Genome-wide association study of circulating liver enzymes reveals an expanded role for manganese transporter SLC30A10 in liver health bioRxiv » FULL ARTICLE

09.21.2019 | Transthyretin-stabilizing mutation T119M is not associated with protection against vascular disease or death in the UK Biobank BioRXiv Parker MM, Damrauer SM, Rader DJ, Ticau S, Erbe D, Hinkle G, Nioi P. » FULL ARTICLE

08.01.2019 | The V122I Mutation in Hereditary Transthyretin-Mediated Amyloidosis is Significantly Associated with Polyneuropathy Journal of Cardiac Failure Parker MM, Damrauer SM, Rader DJ, Ticau S, Erbe D, Hinkle G, Nioi P. » FULL ARTICLE

06.09.2019 | Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology Nature Communications Yosuke Tanigawa, Jiehan Li, Johanne M. Justesen, Heiko Horn, Matthew Aguirre, Christopher DeBoever, Chris Chang, Balasubramanian Narasimhan, Kasper Lage, Trevor Hastie, Chong Y. Park, Gill Bejerano, Erik Ingelsson & Manuel A. Rivas » FULL ARTICLE

04.24.2018 | Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study Nature Communications Christopher DeBoever, Yosuke Tanigawa, Malene E. Lindholm, Greg McInnes, Adam Lavertu, Erik Ingelsson, Chris Chang, Euan A. Ashley, Carlos D. Bustamante, Mark J. Daly & Manuel A. Rivas » FULL ARTICLE

04.14.2018 | Bayesian model comparison for rare variant association studies of multiple phenotypes bioRxiv Christopher DeBoever, Matthew Aguirre,Yosuke Tanigawa, Chris C. A. Spencer, Timothy Poterba, Carlos D. Bustamante, Mark J. Daly, Matti Pirinen, Manuel A. Rivas » FULL ARTICLE