Disrupting upstream translation in mRNAs is associated with human disease

por David S. M. Lee, Joseph Park, Andrew Kromer, Aris Baras, Daniel J. Rader, Marylyn D. Ritchie, Louis R. Ghanem, Yoseph Barash
Publicado 2021

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

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease

por Julie E. Horowitz, Neil Warner, Jeffrey Staples, Eileen Crowley, Nehal Gosalia, Ryan Murchie, Cristopher Van Hout, Karoline Fiedler, Gabriel Welch, Alejandra Klauer King, Jeffrey G. Reid, John D. Overton, Aris Baras, Alan R. Shuldiner, Anne Griffiths, Omri Gottesman, Aleixo M. Muise, Claudia Gonzaga-Jauregui
Publicado 2021

Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations

por Henry R. Kranzler, Hang Zhou, Rachel L. Kember, Rachel Vickers Smith, Amy C. Justice, Scott Damrauer, Philip S. Tsao, Derek Klarin, Aris Baras, Jeffrey Reid, John Overton, Daniel J. Rader, Zhongshan Cheng, Janet P. Tate, William C. Becker, John Concato, Ke Xu, Renato Polimanti, Hongyu Zhao, Joel Gelernter
Publicado 2019

Author Correction: Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations

por Henry R. Kranzler, Hang Zhou, Rachel L. Kember, Rachel Vickers Smith, Amy C. Justice, Scott Damrauer, Philip S. Tsao, Derek Klarin, Aris Baras, Jeffrey Reid, John Overton, Daniel J. Rader, Zhongshan Cheng, Janet P. Tate, William C. Becker, John Concato, Ke Xu, Renato Polimanti, Hongyu Zhao, Joel Gelernter
Publicado 2019

Author Correction: Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations

por Henry R. Kranzler, Hang Zhou, Rachel L. Kember, Rachel Vickers Smith, Amy C. Justice, Scott Damrauer, Philip S. Tsao, Derek Klarin, Aris Baras, Jeffrey Reid, John Overton, Daniel J. Rader, Zhongshan Cheng, Janet P. Tate, William C. Becker, John Concato, Ke Xu, Renato Polimanti, Hongyu Zhao, Joel Gelernter
Publicado 2019

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

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes

por Viktoria Gusarova, Colm O’Dushlaine, Tanya M. Teslovich, Peter N. Benotti, Tooraj Mirshahi, Omri Gottesman, Cristopher V. Van Hout, Michael F. Murray, Anubha Mahajan, Jonas B. Nielsen, Lars Fritsche, Anders Berg Wulff, Daniel F. Gudbjartsson, Marketa Sjögren, Connor A. Emdin, Robert A. Scott, Wen-Jane Lee, Aeron Small, Lydia C. Kwee, Om Prakash Dwivedi, Rashmi B. Prasad, Shannon Bruse, Alexander E. Lopez, John Penn, Anthony Marcketta, Joseph B. Leader, Christopher D. Still, H. Lester Kirchner, Uyenlinh L. Mirshahi, Amr H. Wardeh, Cassandra M. Hartle, Lukas Habegger, Samantha N. Fetterolf, Teresa Tusie-Luna, Andrew P. Morris, Hilma Holm, Valgerdur Steinthorsdottir, Patrick Sulem, Unnur Thorsteinsdottir, Jerome I. Rotter, Lee-Ming Chuang, Scott Damrauer, David Birtwell, Chad M. Brummett, Amit V. Khera, Pradeep Natarajan, Marju Orho-Melander, Jason Flannick, Luca A. Lotta, Cristen J. Willer, Oddgeir L. Holmen, Marylyn D. Ritchie, David H. Ledbetter, Andrew J. Murphy, Ingrid B. Borecki, Jeffrey G. Reid, John D. Overton, Ola Hansson, Leif Groop, Svati H. Shah, William E. Kraus, Daniel J. Rader, Yii-Der I. Chen, Kristian Hveem, Nicholas J. Wareham, Sekar Kathiresan, Olle Melander, Kari Stefansson, Børge G. Nordestgaard, Anne Tybjærg-Hansen, Goncalo R. Abecasis, David Altshuler, Jose C. Florez, Michael Boehnke, Mark I. McCarthy, George D. Yancopoulos, David J. Carey, Alan R. Shuldiner, Aris Baras, Frederick E. Dewey, Jesper Gromada
Publicado 2018