Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Joanna L Mountain"'
Autor:
Amy K Kiefer, Joyce Y Tung, Chuong B Do, David A Hinds, Joanna L Mountain, Uta Francke, Nicholas Eriksson
Publikováno v:
PLoS Genetics, Vol 9, Iss 2, p e1003299 (2013)
Myopia, or nearsightedness, is the most common eye disorder, resulting primarily from excess elongation of the eye. The etiology of myopia, although known to be complex, is poorly understood. Here we report the largest ever genome-wide association st
Externí odkaz:
https://doaj.org/article/cbc99e24a3814ab081102aac879077c2
Autor:
Nicholas Eriksson, Joyce Y Tung, Amy K Kiefer, David A Hinds, Uta Francke, Joanna L Mountain, Chuong B Do
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e34442 (2012)
Hypothyroidism is the most common thyroid disorder, affecting about 5% of the general population. Here we present the current largest genome-wide association study of hypothyroidism, in 3,736 cases and 35,546 controls. Hypothyroidism was assessed via
Externí odkaz:
https://doaj.org/article/4636ff4f8c3b48179250dec3b4c8bf15
Autor:
Brenna M Henn, Lawrence Hon, J Michael Macpherson, Nick Eriksson, Serge Saxonov, Itsik Pe'er, Joanna L Mountain
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e34267 (2012)
Although a few hundred single nucleotide polymorphisms (SNPs) suffice to infer close familial relationships, high density genome-wide SNP data make possible the inference of more distant relationships such as 2(nd) to 9(th) cousinships. In order to c
Externí odkaz:
https://doaj.org/article/bbdd4fac64fa49518bb5186fde30fd42
Autor:
Chuong B Do, Joyce Y Tung, Elizabeth Dorfman, Amy K Kiefer, Emily M Drabant, Uta Francke, Joanna L Mountain, Samuel M Goldman, Caroline M Tanner, J William Langston, Anne Wojcicki, Nicholas Eriksson
Publikováno v:
PLoS Genetics, Vol 7, Iss 6, p e1002141 (2011)
Although the causes of Parkinson's disease (PD) are thought to be primarily environmental, recent studies suggest that a number of genes influence susceptibility. Using targeted case recruitment and online survey instruments, we conducted the largest
Externí odkaz:
https://doaj.org/article/66e71c88538947f0b1affaba60c8bde2
Autor:
Joyce Y Tung, Chuong B Do, David A Hinds, Amy K Kiefer, J Michael Macpherson, Arnab B Chowdry, Uta Francke, Brian T Naughton, Joanna L Mountain, Anne Wojcicki, Nicholas Eriksson
Publikováno v:
PLoS ONE, Vol 6, Iss 8, p e23473 (2011)
While the cost and speed of generating genomic data have come down dramatically in recent years, the slow pace of collecting medical data for large cohorts continues to hamper genetic research. Here we evaluate a novel online framework for obtaining
Externí odkaz:
https://doaj.org/article/6b0856aecd7845b09963675ce77be0ce
Autor:
James R. Ashenhurst, Hoang Nhan, Janie F. Shelton, Shirley Wu, Joyce Y. Tung, Sarah L. Elson, James K. Stoller, Michelle Agee, Stella Aslibekyan, Adam Auton, Elizabeth Babalola, Robert K. Bell, Jessica Bielenberg, Katarzyna Bryc, Emily Bullis, Briana Cameron, Daniella Coker, Gabriel Cuellar Partida, Devika Dhamija, Sayantan Das, Teresa Filshtein, Kipper Fletez-Brant, Pierre Fontanillas, Will Freyman, Pooja M. Gandhi, Karl Heilbron, Barry Hicks, David A. Hinds, Karen E. Huber, Ethan M. Jewett, Yunxuan Jiang, Aaron Kleinman, Katelyn Kukar, Vanessa A. Lane, Keng-Han Lin, Maya Lowe, Marie K. Luff, Jennifer C. McCreight, Matthew H. McIntyre, Kimberly F. McManus, Steven J. Micheletti, Meghan E. Moreno, Joanna L. Mountain, Sahar V. Mozaffari, Priyanka Nandakumar, Elizabeth S. Noblin, Jared O’Connell, Aaron A. Petrakovitz, G. David Poznik, Morgan Schumacher, Anjali J. Shastri, Jingchunzi Shi, Suyash Shringarpure, Chao Tian, Vinh Tran, Xin Wang, Wei Wang, Catherine H. Weldon, Peter Wilton
Publikováno v:
Chest. 161:373-381
Background Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant condition that predisposes to emphysema, cirrhosis, panniculitis, and vasculitis. Under-recognition has prompted efforts to enhance early detection and testing of at-risk in
Publikováno v:
The American Journal of Human Genetics. 110:368-369
Autor:
Kristi Krebs, Jonas Bovijn, Neil Zheng, Maarja Lepamets, Jenny C. Censin, Tuuli Jürgenson, Dage Särg, Erik Abner, Triin Laisk, Yang Luo, Line Skotte, Frank Geller, Bjarke Feenstra, Wei Wang, Adam Auton, Soumya Raychaudhuri, Tõnu Esko, Andres Metspalu, Sven Laur, Dan M. Roden, Wei-Qi Wei, Michael V. Holmes, Cecilia M. Lindgren, Elizabeth J. Phillips, Reedik Mägi, Lili Milani, João Fadista, Michelle Agee, Stella Aslibekyan, Robert K. Bell, Katarzyna Bryc, Sarah K. Clark, Sarah L. Elson, Kipper Fletez-Brant, Pierre Fontanillas, Nicholas A. Furlotte, Pooja M. Gandhi, Karl Heilbron, Barry Hicks, David A. Hinds, Karen E. Huber, Ethan M. Jewett, Yunxuan Jiang, Aaron Kleinman, Keng-Han Lin, Nadia K. Litterman, Marie K. Luff, Jennifer C. McCreight, Matthew H. McIntyre, Kimberly F. McManus, Joanna L. Mountain, Sahar V. Mozaffari, Priyanka Nandakumar, Elizabeth S. Noblin, Carrie A.M. Northover, Jared O’Connell, Aaron A. Petrakovitz, Steven J. Pitts, G. David Poznik, J. Fah Sathirapongsasuti, Anjali J. Shastri, Janie F. Shelton, Suyash Shringarpure, Chao Tian, Joyce Y. Tung, Robert J. Tunney, Vladimir Vacic, Xin Wang, Amir S. Zare
Publikováno v:
The American Journal of Human Genetics. 107:612-621
Hypersensitivity reactions to drugs are often unpredictable and can be life threatening, underscoring a need for understanding their underlying mechanisms and risk factors. The extent to which germline genetic variation influences the risk of commonl
Autor:
Nadia Litterman, Steven J. Micheletti, Janie F. Shelton, Joanna L. Mountain, Michelle Agee, Samantha G. Ancona Esselmann, Sayantan Das, Ethan M. Jewett, S. Clark, A. Petrakovitz, Karl Heilbron, Suyash Shringarpure, Jeffery R. O'Connell, G. David Poznik, Pierre Fontanillas, Kipper Fletez-Brant, Keng-Han Lin, Sahar V. Mozaffari, William A. Freyman, Joyce Y. Tung, Carrie Northover, Anjali J. Shastri, Kimberly F. McManus, Adam Auton, Aaron Kleinman, L. Noblin, P. Gandhi, Xin Wang, Vladimir Vacic, Chao Tian, Karen E. Huber, Jennifer C. McCreight, Yunxuan Jiang, R. Tunney, Robert K. Bell, Sarah L. Elson, Barry W. Hicks, A. Zare, Sandra Beleza, Stella Aslibekyan, David A. Hinds, Meghan E. Moreno, Steven J. Pitts, Kasia Bryc, Matthew H. McIntyre, P. Nandakumar
Publikováno v:
American Journal of Human Genetics
According to historical records of transatlantic slavery, traders forcibly deported an estimated 12.5 million people from ports along the Atlantic coastline of Africa between the 16th and 19th centuries, with global impacts reaching to the present da
Autor:
Neda Nemat-Gorgani, Jacques Chiaroni, Lluis Quintana-Murci, Steven Norberg, Peter Parham, Martin Sikora, Paul Norman, Brenna M. Henn, Joanna L. Mountain, Lisbeth A. Guethlein
Publikováno v:
Journal of immunology (Baltimore, Md. : 1950), vol 202, iss 9
J Immunol
J Immunol
HLA class I and KIR sequences were determined for Dogon, Fulani, and Baka populations of western Africa, Mbuti of central Africa, and Datooga, Iraqw, and Hadza of eastern Africa. Study of 162 individuals identified 134 HLA class I alleles (41 HLA-A,