Zobrazeno 1 - 10
of 231
pro vyhledávání: '"John J. Connolly"'
Autor:
Kathleen Ferar, Taryn O. Hall, Dana C. Crawford, Robb Rowley, Benjamin A. Satterfield, Rongling Li, Loren Gragert, Elizabeth W. Karlson, Mariza de Andrade, Iftikhar J. Kullo, Catherine A. McCarty, Abel Kho, M. Geoffrey Hayes, Marylyn D. Ritchie, Paul K. Crane, Daniel B. Mirel, Christopher Carlson, John J. Connolly, Hakon Hakonarson, Andrew T. Crenshaw, David Carrell, Yuan Luo, Ozan Dikilitas, Joshua C. Denny, Gail P. Jarvik, David R. Crosslin
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Clostridioides difficile (C. diff.) infection (CDI) is a leading cause of hospital acquired diarrhea in North America and Europe and a major cause of morbidity and mortality. Known risk factors do not fully explain CDI susceptibility, and ge
Externí odkaz:
https://doaj.org/article/458631016886416d88885a8ac733ac36
Autor:
Kathleen Ferar, Taryn O. Hall, Dana C. Crawford, Robb Rowley, Benjamin A. Satterfield, Rongling Li, Loren Gragert, Elizabeth W. Karlson, Mariza de Andrade, Iftikhar J. Kullo, Catherine A. McCarty, Abel Kho, M. Geoffrey Hayes, Marylyn D. Ritchie, Paul K. Crane, Daniel B. Mirel, Christopher Carlson, John J. Connolly, Hakon Hakonarson, Andrew T. Crenshaw, David Carrell, Yuan Luo, Ozan Dikilitas, Joshua C. Denny, Gail P. Jarvik, David R. Crosslin
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/417a9751ee31449c8b62fe24ec694497
Autor:
Yen-Chen A. Feng, Ian B. Stanaway, John J. Connolly, Joshua C. Denny, Yuan Luo, Chunhua Weng, Wei-Qi Wei, Scott T. Weiss, Elizabeth W. Karlson, Jordan W. Smoller
Publikováno v:
BMC Genomics, Vol 23, Iss 1, Pp 1-12 (2022)
Abstract Background As genomic sequencing moves closer to clinical implementation, there has been an increasing acceptance of returning incidental findings to research participants and patients for mutations in highly penetrant, medically actionable
Externí odkaz:
https://doaj.org/article/1d172a6eb2b243b18252e93e437d1df3
Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients
Autor:
Jingchun Qu, Hui-Qi Qu, Jonathan P. Bradfield, Joseph T. Glessner, Xiao Chang, Lifeng Tian, Michael March, John J. Connolly, Jeffrey D. Roizen, Patrick M. A. Sleiman, Hakon Hakonarson
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract With polygenic risk score (PRS) for autoimmune type 1 diabetes (T1D), this study identified T1D cases with low T1D PRS and searched for susceptibility loci in these cases. Our hypothesis is that genetic effects (likely mediated by relatively
Externí odkaz:
https://doaj.org/article/ed9a2299120543618940a4496e3810ca
Autor:
Hui-Qi Qu, Jingchun Qu, Jonathan Bradfield, Luc Marchand, Joseph Glessner, Xiao Chang, Michael March, Jin Li, John J. Connolly, Jeffrey D. Roizen, Patrick Sleiman, Constantin Polychronakos, Hakon Hakonarson
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-10 (2021)
Hui-Qi Qu et al. present a case-control association study to examine the genetic architecture of European patients with type 1 diabetes (T1D) of low genetic risk score. They identify 41 loci associated with T1D of low genetic risk score, including re
Externí odkaz:
https://doaj.org/article/299624c58fdb434482bd26884aea79ed
Autor:
Hui-Qi Qu, Joseph Glessner, Jingchun Qu, Steven Gilhool, Frank Mentch, Ian Campbell, Patrick Sleiman, John J. Connolly, Hakon Hakonarson
Publikováno v:
iScience, Vol 25, Iss 7, Pp 104650- (2022)
Summary: Plasma metabolomics represents a potentially powerful approach to understand the biochemical mechanisms of nutrition and metabolism in asthma. This study aims to acquire knowledge on plasma metabolites in asthma, which may provide avenues fo
Externí odkaz:
https://doaj.org/article/cb0a7ddac76a4d6c9c2d8f5682f5ec8e
Autor:
Elisabeth A. Rosenthal, David R. Crosslin, Adam S. Gordon, David S. Carrell, Ian B. Stanaway, Eric B. Larson, Jane Grafton, Wei-Qi Wei, Joshua C. Denny, Qi-Ping Feng, Amy S. Shah, Amy C. Sturm, Marylyn D. Ritchie, Jennifer A. Pacheco, Hakon Hakonarson, Laura J. Rasmussen-Torvik, John J. Connolly, Xiao Fan, Maya Safarova, Iftikhar J. Kullo, Gail P. Jarvik
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)
Abstract Background Elevated triglycerides (TG) are associated with, and may be causal for, cardiovascular disease (CVD), and co-morbidities such as type II diabetes and metabolic syndrome. Pathogenic variants in APOA5 and APOC3 as well as risk SNVs
Externí odkaz:
https://doaj.org/article/6017526f88914f8fb0934870332439bf
Autor:
Hui-Qi Qu, Charlly Kao, James Garifallou, Fengxiang Wang, James Snyder, Diana J. Slater, Cuiping Hou, Michael March, John J. Connolly, Joseph T. Glessner, Hakon Hakonarson
Publikováno v:
Genes, Vol 14, Iss 1, p 142 (2023)
Background: Peripheral blood mononuclear cells (PBMCs) are widely used as a model in the study of different human diseases. There is often a time delay from blood collection to PBMC isolation during the sampling process, which can result in an experi
Externí odkaz:
https://doaj.org/article/8a0a2eec1b6c49718c1583a8e2759af6
Autor:
Shannon Terek, Maya C. Del Rosario, Heather S. Hain, John J. Connolly, Meckenzie A. Behr, Margaret Harr, Hakon Hakonarson, Ingrid A. Holm
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 12, p 1945 (2022)
The electronic MEdical Records and GEnomics (eMERGE) consortium will return risk reports pertaining to specific diseases, a key component of which will be polygenic risk scores (PRS), to 25,000 participants, including 5000 children. Understanding com
Externí odkaz:
https://doaj.org/article/240fb2e457c44299b62b34cad7c388a4
Autor:
Amy A. Blumling, Cynthia A. Prows, Margaret H. Harr, Wendy K. Chung, Ellen Wright Clayton, Ingrid A. Holm, Georgia L. Wiesner, John J. Connolly, John B. Harley, Hakon Hakonarson, Michelle L. McGowan, Erin M. Miller, Melanie F. Myers
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 11, p 1910 (2022)
Purpose: The electronic Medical Records and Genomics (eMERGE) Phase III study was undertaken to assess clinical utility of returning medically actionable genomic screening results. We assessed pediatric clinical outcomes following return of pathogeni
Externí odkaz:
https://doaj.org/article/f28f510dd2c4439db07b4e0fb1f72c40