Zobrazeno 1 - 10
of 85
pro vyhledávání: '"M. Chiavacci"'
Autor:
Dong Li, Xiao Chang, John J. Connolly, Lifeng Tian, Yichuan Liu, Elizabeth J. Bhoj, Nora Robinson, Debra Abrams, Yun R. Li, Jonathan P. Bradfield, Cecilia E. Kim, Jin Li, Fengxiang Wang, James Snyder, Maria Lemma, Cuiping Hou, Zhi Wei, Yiran Guo, Haijun Qiu, Frank D. Mentch, Kelly A. Thomas, Rosetta M. Chiavacci, Roger Cone, Bingshan Li, Patrick A. Sleiman, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group, Hakon Hakonarson
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-4 (2017)
Abstract A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.
Externí odkaz:
https://doaj.org/article/22c1a68e1b1244bfbeccc05477f6cb9e
Autor:
Dong Li, Xiao Chang, John J. Connolly, Lifeng Tian, Yichuan Liu, Elizabeth J. Bhoj, Nora Robinson, Debra Abrams, Yun R. Li, Jonathan P. Bradfield, Cecilia E. Kim, Jin Li, Fengxiang Wang, James Snyder, Maria Lemma, Cuiping Hou, Zhi Wei, Yiran Guo, Haijun Qiu, Frank D. Mentch, Kelly A. Thomas, Rosetta M. Chiavacci, Roger Cone, Bingshan Li, Patrick A. Sleiman, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group, Hakon Hakonarson
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-8 (2017)
Abstract We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide si
Externí odkaz:
https://doaj.org/article/c8e31ccf3a9142b0b22d33ac699f7142
Autor:
Patricia J. Hicks, Leticia S. Matsuoka, Michael E. March, Matthew R. Swift, Charlly Kao, Mark R Battig, Alvaro Gutierrez-Uzquiza, Christoph Seiler, Hyun Min Jung, Michael A. Levine, Elizabeth J. Bhoj, Courtney N Kaminski, Hakon Hakonarson, Lifeng Tian, Brant M. Weinstein, Yoav Dori, Rosetta M. Chiavacci, Janet T. Strausbaugh, Nora Robinson, Jonathan A. Perkins, Dong Li, Erin Pinto, Tiancheng Wang, Patrick M. A. Sleiman, Jean B. Belasco, Tara L. Wenger, Yichuan Liu
Publikováno v:
Nature Medicine. 25:1116-1122
The treatment of lymphatic anomaly, a rare devastating disease spectrum of mostly unknown etiologies, depends on the patient manifestations1. Identifying the causal genes will allow for developing affordable therapies in keeping with precision medici
Autor:
Maede Mohebnasab, Brendan J. Keating, Cuiping Hou, Elizabeth Goldmuntz, Fengxiang Wang, Marcella Devoto, Hakon Hakonarson, Rosetta M. Chiavacci, Robert W. Grundmeier, Bradley P. Coe, Dexter Hadley, Marina Bakay, Alexandria Thomas, Jin Li, Patrick M. A. Sleiman, Xiao Chang, Lawrence Wu, Joseph T. Glessner, Haijun Qiu, Mingyao Li, Shanell Harrison, Christopher J. Cardinale, Michael E. March, Munir Khan, Josephine Elia, Maria Lemma, Renata Pellagrino, Evan E. Eichler, Struan F.A. Grant, Debra J. Abrams, Andrew Bridglall-Jhingoor, John J. Connolly, John M. Maris, Cecilia Kim, Meckenzie Behr, Jonathan P. Bradfield, George Otieno, Frank D. Mentch, Zhi Wei, Charlly Kao, Yun Li
Publikováno v:
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-9 (2020)
Nature Communications, Vol 11, Iss 1, Pp 1-9 (2020)
Copy number variants (CNVs) are suggested to have a widespread impact on the human genome and phenotypes. To understand the role of CNVs across human diseases, we examine the CNV genomic landscape of 100,028 unrelated individuals of European ancestry
Autor:
Jonathan P Bradfield, Hui-Qi Qu, Kai Wang, Haitao Zhang, Patrick M Sleiman, Cecilia E Kim, Frank D Mentch, Haijun Qiu, Joseph T Glessner, Kelly A Thomas, Edward C Frackelton, Rosetta M Chiavacci, Marcin Imielinski, Dimitri S Monos, Rahul Pandey, Marina Bakay, Struan F A Grant, Constantin Polychronakos, Hakon Hakonarson
Publikováno v:
PLoS Genetics, Vol 7, Iss 9, p e1002293 (2011)
Diabetes impacts approximately 200 million people worldwide, of whom approximately 10% are affected by type 1 diabetes (T1D). The application of genome-wide association studies (GWAS) has robustly revealed dozens of genetic contributors to the pathog
Externí odkaz:
https://doaj.org/article/897f4eff66334d93beff18075888a2db
Autor:
Struan F A Grant, Mingyao Li, Jonathan P Bradfield, Cecilia E Kim, Kiran Annaiah, Erin Santa, Joseph T Glessner, Tracy Casalunovo, Edward C Frackelton, F George Otieno, Julie L Shaner, Ryan M Smith, Marcin Imielinski, Andrew W Eckert, Rosetta M Chiavacci, Robert I Berkowitz, Hakon Hakonarson
Publikováno v:
PLoS ONE, Vol 3, Iss 3, p e1746 (2008)
Recently an association was demonstrated between the single nucleotide polymorphism (SNP), rs9939609, within the FTO locus and obesity as a consequence of a genome wide association (GWA) study of type 2 diabetes in adults. We examined the effects of
Externí odkaz:
https://doaj.org/article/23d313cfac7d4c49879d454db897a2d9
Autor:
Gabrielle J. Kosobucki, Rosetta M. Chiavacci, Celina von Stülpnagel-Steinbeis, Lifeng Tian, Wenjuan Chen, Konstanze Hörtnagel, Eric D. Marsh, Xilma R. Ortiz-Gonzalez, Ulrike B. S. Hedrich, Stephen F. Traynelis, Claudia Naase, Anel Tankovic, Marni J. Falk, Hakon Hakonarson, Johannes R. Lemke, Dong Li, Hirofumi Kusumoto, Gina E. Elsen, Elias Aizenman, Chun Hu, Anthony J. Schulien, Hongjie Yuan, Elizabeth M. McCormick, Frieder Brueckner
Publikováno v:
The American Journal of Human Genetics. 99:802-816
N-methyl-D-aspartate receptors (NMDARs) are ligand-gated cation channels that mediate excitatory synaptic transmission. Genetic mutations in multiple NMDAR subunits cause various childhood epilepsy syndromes. Here, we report a de novo recurrent heter
Autor:
Patrick M. A. Sleiman, Marina Bakay, Lifeng Tian, Charlly Kao, Tara L. Wenger, Nora Robinson, Yoav Dori, Alvaro Gutierrez-Uzquiza, Renata Pellegrino da Silva, Cuiping Hou, Maxim Itkin, Patricia J. Hicks, Mechenzie Behr, Dong Li, Tiancheng Wang, Misha Rosenbach, Yichuan Liu, Rosetta M. Chiavacci, Michael E. March, Christoph Seiler, Michael A. Levine, Jonathan A. Perkins, Elizabeth J. Bhoj, Hakon Hakonarson
Publikováno v:
Hum Mol Genet
Central conducting lymphatic anomaly (CCLA) is one of the complex lymphatic anomalies characterized by dilated lymphatic channels, lymphatic channel dysmotility and distal obstruction affecting lymphatic drainage. We performed whole exome sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42a7524903da4886a2d43787e68e8b4
https://europepmc.org/articles/PMC7190898/
https://europepmc.org/articles/PMC7190898/
Autor:
Nilsa De Jesus-Rosario, Andrew Weller, Joshua Davis, Emma Slattery, Tiancheng Wang, Lene Larsen, Sharon Hwang, Brian Sykes, Hakon Hakonarson, Jacqueline Potts, Enda Byrne, Rosetta M. Chiavacci, J. Jeffrey Malatack, Josephine Elia, Bhumi Kumar, Kanani Titchen, Athena F. Zuppa, Charlly Kao, Yun Li, Christine Kurian, Grace Ungal, Alexander Ambrosini, Walter K. Kraft, Ganesh S. Moorthy
Publikováno v:
Nature Communications
Nature Communications, Vol 9, Iss 1, Pp 1-9 (2018)
Nature Communications, Vol 9, Iss 1, Pp 1-9 (2018)
The glutamatergic neurotransmitter system may play an important role in attention-deficit hyperactivity disorder (ADHD). This 5-week, open-label, single-blind, placebo-controlled study reports the safety, pharmacokinetics and responsiveness of the me
Autor:
Kelly A. Thomas, Fengxiang Wang, Cecilia Kim, Frank D. Mentch, Cuiping Hou, Renata Pellegrino, Rahul Pandey, Tiancheng Wang, Hakon Hakonarson, Patrick M. A. Sleiman, Jin Li, Irene Fung, Jonathan M. Spergel, Rosetta M. Chiavacci, Marina Bakay, Joseph T. Glessner, Zhi Wei
Publikováno v:
The Journal of Immunology. 195:1599-1607
Food allergy is a significant public health concern, especially among children. Previous candidate gene studies suggested a few susceptibility loci for food allergy, but no study investigated the contribution of copy number variations (CNVs) to food