Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

por Aimee M. Deaton, Margaret M. Parker, Lucas D. Ward, Alexander O. Flynn-Carroll, Lucas BonDurant, Gregory Hinkle, Parsa Akbari, Luca A. Lotta, Regeneron Genetics Center, DiscovEHR Collaboration, Aris Baras, Paul Nioi
Publicado 2021

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

por Lucas D. Ward, Ho-Chou Tu, Chelsea B. Quenneville, Shira Tsour, Alexander O. Flynn-Carroll, Margaret M. Parker, Aimee M. Deaton, Patrick A. J. Haslett, Luca A. Lotta, Niek Verweij, Manuel A. R. Ferreira, Regeneron Genetics Center, Geisinger-Regeneron DiscovEHR Collaboration, Aris Baras, Gregory Hinkle, Paul Nioi
Publicado 2021

Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry

por Margaret M. Parker, Scott M. Damrauer, Catherine Tcheandjieu, David Erbe, Emre Aldinc, Philip N. Hawkins, Julian D. Gillmore, Leland E. Hull, Julie A. Lynch, Jacob Joseph, Simina Ticau, Alexander O. Flynn-Carroll, Aimee M. Deaton, Lucas D. Ward, Themistocles L. Assimes, Philip S. Tsao, Kyong-Mi Chang, Daniel J. Rader, Kevin Fitzgerald, Akshay K. Vaishnaw, Gregory Hinkle, Paul Nioi
Publicado 2021