Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Kimberly R. Kukurba"'
Autor:
Kimberly R Kukurba, Rui Zhang, Xin Li, Kevin S Smith, David A Knowles, Meng How Tan, Robert Piskol, Monkol Lek, Michael Snyder, Daniel G Macarthur, Jin Billy Li, Stephen B Montgomery
Publikováno v:
PLoS Genetics, Vol 10, Iss 5, p e1004304 (2014)
Personal exome and genome sequencing provides access to loss-of-function and rare deleterious alleles whose interpretation is expected to provide insight into individual disease burden. However, for each allele, accurate interpretation of its effect
Externí odkaz:
https://doaj.org/article/de79457baaa743e7836ac518c636ba25
Autor:
Zachary Zappala, Joe R. Davis, Brunilda Balliu, Stephen B. Montgomery, Sara Mostafavi, James B. Potash, Philip Awadalla, Princy Parsana, David A. Knowles, Kevin S. Smith, Douglas F. Levinson, Anshul Kundaje, Marie-Julie Favé, Myrna M. Weissman, Jianxin Shi, Kimberly R. Kukurba, Alexis Battle, Xin Li, Xiaowei Zhu
Publikováno v:
Genome Research. 26:768-777
The X Chromosome, with its unique mode of inheritance, contributes to differences between the sexes at a molecular level, including sex-specific gene expression and sex-specific impact of genetic variation. Improving our understanding of these differ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f9bb2af4bb372e30f548afbbaf7c631
https://doi.org/10.1101/gr.197897.115
https://doi.org/10.1101/gr.197897.115
Autor:
Michael Snyder, Jennifer Li-Pook-Than, Meixue Duan, Lin Xia, Rui Chen, Kailing Tu, Kimberly R. Kukurba, Dan Xie
Publikováno v:
Nat Med
Epigenomics regulates gene expression and is as important as genomics in precision personal health, as it is heavily influenced by environment and lifestyle. We profiled whole-genome DNA methylation and the corresponding transcriptome of peripheral b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be45b2d6ada0b49776ce571b580cf8a
https://europepmc.org/articles/PMC8084418/
https://europepmc.org/articles/PMC8084418/
Autor:
Tejaswini Mishra, Orit Dagan-Rosenfeld, Blake M. Hanson, Colleen M. Craig, Daniel Hornburg, David Tse, Songjie Chen, Jethro S. Johnson, Tracey McLaughlin, Varsha Rao, Yanjiao Zhou, Sara Ahadi, Candice A. Allister, Liang Liang, Hoan Nguyen, Martin J. Zhang, Patricia Limcaoco, Erica Sodergren, Elizabeth Colbert, Brian D. Piening, Lei Chen, Bo-Young Hong, Melanie Ashland, Hannes L. Röst, Kévin Contrepois, Amir Bahmani, Brandon Albright, Daniel Spakowicz, Thi Dong Binh Tran, Eddy J. Bautista, Dalia Perelman, Eric X Wei, Lauren M. Petersen, George M. Weinstock, Kimberly R. Kukurba, Denis Salins, Brittany Lee-McMullen, Shannon Rego, Ahmed A. Metwally, Hassan Chaib, Xin Zhou, M. Reza Sailani, Sophia Miryam Schüssler-Fiorenza Rose, Wenyu Zhou, Benjamin Leopold, Jessilyn Dunn, Shana R. Leopold, Monika Avina, Michael Snyder
Publikováno v:
Nature, vol 569, iss 7758
Nature
Nature
Type 2 diabetes mellitus (T2D) is a growing health problem, but little is known about its early disease stages, its effects on biological processes or the transition to clinical T2D. To understand the earliest stages of T2D better, we obtained sample
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43f8e49d27b25a553a0c480ccba0dc67
https://pubmed.ncbi.nlm.nih.gov/31142867
https://pubmed.ncbi.nlm.nih.gov/31142867
Autor:
Jin Billy Li, Cydney Urbanek, Tuuli Lappalainen, Taru Tukiainen, Celeste Eng, Stephen B. Montgomery, Daniel G. MacArthur, Rui Zhang, Meena Subramaniam, Kimberly R. Kukurba, Jose R. Rodriguez-Santana, Anne Biton, Max A. Seibold, Yael Baran, Maria Gutierrez-Arcelus, Kevin S. Smith, Dara G. Torgerson, Manuel A. Rivas, Esteban G. Burchard, Matti Pirinen, Noah Zaitlen, Emily K. Tsang
Publikováno v:
Genome Research. 25:927-936
Genomic imprinting is an important regulatory mechanism that silences one of the parental copies of a gene. To systematically characterize this phenomenon, we analyze tissue specificity of imprinting from allelic expression data in 1582 primary tissu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d34b6e2788406a2b9b8249471ad9fb77
https://doi.org/10.1101/gr.192278.115
https://doi.org/10.1101/gr.192278.115
Autor:
Kimberly R. Kukurba, Stephen B. Montgomery, Emily K. Tsang, Tomas Babak, Kevin S. Smith, Yiqi Zhou, Brian DeVeale, Derek van der Kooy, Rui Zhang, Hunter B. Fraser, Jin Billy Li, Xin Li
Publikováno v:
Nature genetics
Genomic imprinting is an epigenetic process that restricts gene expression to either the maternally or paternally inherited allele1,2. Many theories have been proposed to explain its evolutionary origin3,4, but our understanding has been limited by a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15270961f7a66faf37a15ae6dab75361
https://doi.org/10.1038/ng.3274
https://doi.org/10.1038/ng.3274
Autor:
George M. Weinstock, Denis Salins, Sharon J. Pitteri, Cheng Zhang, Michael Snyder, Jessica Wheeler, Gucci Jijuan Gu Urban, Daniel Spakowicz, Shannon Rego, Dalia Perelman, Erica Sodergren, Shana R. Leopold, Tejaswini Mishra, Hannes L. Röst, Eddy J. Bautista, Imon Banerjee, Cynthia Chen, Tracey McLaughlin, Wenyu Zhou, M. Reza Sailani, Daniel L. Rubin, Brian D. Piening, Blake M. Hanson, Colleen M. Craig, Ulf Smith, Elizabeth Colbert, Kimberly R. Kukurba, Mark Gerstein, Liang Liang, Adil Mardinoglu, Charles Abbott, Kévin Contrepois, Sunjae Lee, Christine Y. Yeh
Publikováno v:
Cell systems. 6(2)
Advances in omics technologies now allow an unprecedented level of phenotyping for human diseases, including obesity, in which individual responses to excess weight are heterogeneous and unpredictable. To aid the development of better understanding o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::648af7f8f2a5f132b6277099bb591cab
https://pubmed.ncbi.nlm.nih.gov/29361466
https://pubmed.ncbi.nlm.nih.gov/29361466
Autor:
Edoardo Fiorillo, Stephen Sawcer, Riccardo Berutti, Chris Jones, Mara Marongiu, Michael C. Bassik, Stephen B. Montgomery, Michael J. Gloudemans, Frederic Reinier, Alexis Battle, Gonçalo R. Abecasis, Maristella Steri, Elena P. Sorokin, Serena Sanna, Fabio Busonero, Andrea Maschio, Francesca Crobu, Magdalena Zoledziewska, Maria Grazia Piras, Francesco Cucca, Mauro Pala, John Novembre, Kimberly R. Kukurba, Xin Li, David Schlessinger, Roberto Cusano, Joe R. Davis, Antonella Mulas, Gaelen T. Hess, Kevin S. Smith, Andrea Angius, Carlo Sidore, Michele Marongiu, Zachary Zappala
Publikováno v:
Nature genetics
Genetic studies of complex traits have mainly identified associations with non-coding variants. To further determine the contribution of regulatory variation, we combined whole genome and transcriptome data for 624 individuals from Sardinia in order
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b51087a7d9085e253aa015aed501080
https://www.repository.cam.ac.uk/handle/1810/263492
https://www.repository.cam.ac.uk/handle/1810/263492
Autor:
Stephen M. Lewis, Dudley Chung, Christopher H. Eskiw, Sara Lahsaee, Stephen B. Montgomery, Kara L. Koskowich, Kevin S. Smith, Daniel Gaston, Laura D. Frost, Daniel Leger, Ellen Parker, Ian C. Chute, Alex Stathakis, Graham Dellaire, Livia E. Anthes, Jayme Salsman, Kimberly R. Kukurba
Publikováno v:
Scientific Reports
The promyelocytic leukemia (PML) protein is an essential component of PML nuclear bodies (PML NBs) frequently lost in cancer. PML NBs coordinate chromosomal regions via modification of nuclear proteins that in turn may regulate genes in the vicinity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73a1500f8a482d033465316a142c942d
http://europepmc.org/articles/PMC5362932
http://europepmc.org/articles/PMC5362932
Autor:
Eric Wu, David A. Knowles, Konrad J. Karczewski, Kimberly R. Kukurba, Kevin S. Smith, Stephen B. Montgomery, Alexis Battle, Xin Li, Zach Zappala, Noah Simon
Publikováno v:
The American Journal of Human Genetics. 95(3):245-256
Recent and rapid human population growth has led to an excess of rare genetic variants that are expected to contribute to an individual’s genetic burden of disease risk. To date, much of the focus has been on rare protein-coding variants, for which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5811781e6ef2c1a1bd1cd1d87909947