Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Kathryn B. Manheimer"'
Autor:
Alexander Hsieh, Sarah U. Morton, Jon A. L. Willcox, Joshua M. Gorham, Angela C. Tai, Hongjian Qi, Steven DePalma, David McKean, Emily Griffin, Kathryn B. Manheimer, Daniel Bernstein, Richard W. Kim, Jane W. Newburger, George A. Porter, Deepak Srivastava, Martin Tristani-Firouzi, Martina Brueckner, Richard P. Lifton, Elizabeth Goldmuntz, Bruce D. Gelb, Wendy K. Chung, Christine E. Seidman, J. G. Seidman, Yufeng Shen
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-18 (2020)
Abstract Background The contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood. Further, the relationship between mosaicism in blood and cardiovascular tiss
Externí odkaz:
https://doaj.org/article/b7f196ef4fc94a1c9c9e2a38f2b299d7
Autor:
Daniel Bernstein, Martin Tristani-Firouzi, Jane W. Newburger, Sarah U. Morton, Diane E. Dickel, Lauren K. Wasson, Seong Won Kim, Jonathan G. Seidman, Martina Brueckner, Hongjian Qi, Elizabeth Goldmuntz, George A. Porter, Eric E. Schadt, Olga G. Troyanskaya, Kathryn B. Manheimer, Jian Zhou, Jason Homsy, Michael Parfenov, Steven R. DePalma, Bruce D. Gelb, Andrew Farrell, Alexander Kitaygorodsky, Matt Velinder, Gabor T. Marth, Richard B. Kim, Nihir Patel, Jonathan R. Kaltman, Felix Richter, Deepak Srivastava, Kathleen M. Chen, Yufeng Shen, Joshua M. Gorham, Christine E. Seidman, Alessandro Giardini, Wendy K. Chung
Publikováno v:
Nature Genetics. 52:769-777
A genetic etiology is identified for one-third of patients with congenital heart disease (CHD), with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution of noncoding DNVs to CHD, we compared genome sequences from 74
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f24be7160476aa52e32f103edff9347b
https://doi.org/10.1038/s41588-020-0652-z
https://doi.org/10.1038/s41588-020-0652-z
Autor:
Bruce D. Gelb, Elizabeth Goldmuntz, Jane W. Newburger, J. William Gaynor, Lynn A. Sleeper, Daniel Bernstein, Angela Romano-Adesman, Martina Brueckner, Martin Tristani-Firouzi, Jonathan R. Kaltman, David B. Meyer, Marko T. Boskovski, Michael F. Swartz, John E. Mayer, Emile A. Bacha, George M. Alfieris, Joshua M. Gorham, Richard P. Lifton, Jason Homsy, Christine E. Seidman, Meena Nathan, Wendy K. Chung, Khanh Nguyen, Jonathan G. Seidman, Matthew J. Lewis, Deepak Srivastava, Amy E. Roberts, Sarah U. Morton, George A. Porter, Angela Tai, Kathryn B. Manheimer, Richard W. Kim, Mohsen Karimi
Publikováno v:
Circulation. Genomic and Precision Medicine
Circulation. Genomic and precision medicine, vol 13, iss 4
Circulation. Genomic and precision medicine, vol 13, iss 4
Supplemental Digital Content is available in the text.
Background: De novo genic and copy number variants are enriched in patients with congenital heart disease, particularly those with extra-cardiac anomalies. The impact of de novo damaging var
Background: De novo genic and copy number variants are enriched in patients with congenital heart disease, particularly those with extra-cardiac anomalies. The impact of de novo damaging var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::921b6b4e29c23d3a3ee57c86891de380
https://pubmed.ncbi.nlm.nih.gov/32812804
https://pubmed.ncbi.nlm.nih.gov/32812804
Autor:
Jane W. Newburger, Emily Leann Griffin, Jonathan G. Seidman, Martina Brueckner, Bruce D. Gelb, Alexander Hsieh, Steven R. DePalma, Kathryn B. Manheimer, David M. McKean, Joshua M. Gorham, Jon A. L. Willcox, Deepak Srivastava, Elizabeth Goldmuntz, Christine E. Seidman, George A. Porter, Angela C. Tai, Sarah U. Morton, Daniel Bernstein, Hongjian Qi, Richard P. Lifton, Yufeng Shen, Richard W. Kim, Wendy K. Chung, Martin Tristani-Firouzi
Publikováno v:
Genome medicine, vol 12, iss 1
Genome Medicine, Vol 12, Iss 1, Pp 1-18 (2020)
Genome Medicine
Genome Medicine, Vol 12, Iss 1, Pp 1-18 (2020)
Genome Medicine
Background The contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood. Further, the relationship between mosaicism in blood and cardiovascular tissue has no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f9ab9bba16ffeb7c3f218a8c50b0a0
https://escholarship.org/uc/item/6n9816bk
https://escholarship.org/uc/item/6n9816bk
Autor:
Joshua M. Gorham, Christine E. Seidman, Richard P. Lifton, Elizabeth Goldmuntz, Wendy K. Chung, Yufeng Shen, Lisa Edelmann, Jason Homsy, Felix Richter, Kathryn B. Manheimer, Martina Brueckner, Angela C. Tai, Marko T. Boskovski, Bruce D. Gelb, Jonathan G. Seidman, Sunita L. D’Souza, Christopher M Yasso, Lisong Shi
Publikováno v:
Human Genetics. 137:183-193
Mosaicism due to somatic mutations can cause multiple diseases including cancer, developmental and overgrowth syndromes, neurodevelopmental disorders, autoinflammatory diseases, and atrial fibrillation. With the increased use of next generation seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::263495987138232900d315fd5432abb5
https://doi.org/10.1007/s00439-018-1871-6
https://doi.org/10.1007/s00439-018-1871-6
Autor:
Joshua M. Gorham, Christine E. Seidman, Steve Depalma, Elizabeth Goldmuntz, Bruce D. Gelb, Kathryn B. Manheimer, Alexander Hsieh, Richard P. Lifton, Yufeng Shen, Jane W. Newburger, Sarah U. Morton, Wendy K. Chung, Deepak Srivastava, Emily Leann Griffin, George A. Porter, Richard W. Kim, Hongjian Qi, Daniel Bernstein, Martina Brueckner, Jon G. Seidman, Angela Tai, Martin Tristani-Firouzi, David M. McKean, Jon A. L. Willcox
BackgroundThe contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood. Further, the relationship between mosaicism in blood and cardiovascular tissue has not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::952ec18192f87399108f7ef15ac7b3ce
Autor:
Badri Krishnan, Kim S. McKim, Bruce D. McKee, Mercedes R. Gyuricza, Eric F. Joyce, Vandana Apte, Kathryn B. Manheimer
Publikováno v:
Current Biology. 26:1688-1698
Assembly of the synaptonemal complex (SC) in Drosophila depends on two independent pathways defined by the chromosome axis proteins C(2)M and ORD. Because C(2)M encodes a Kleisin-like protein and ORD is required for sister chromatid cohesion, we test
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92486b4159f46823e766d835282fe6f0
https://doi.org/10.1016/j.cub.2016.05.006
https://doi.org/10.1016/j.cub.2016.05.006
Autor:
Wendy K. Chung, Jonathan G. Seidman, Bruce D. Gelb, Nihir Patel, Michael Parfenov, Kathryn B. Manheimer, Elizabeth Goldmuntz, Joshua M. Gorham, Christine E. Seidman, Marko T. Boskovski, Andrew J. Sharp, Deepak Srivastava, Felix Richter, Martina Brueckner, Martin Tristani-Firouzi, Angela C. Tai, Jason Homsy
Publikováno v:
Human mutation, vol 39, iss 6
Multiple tools have been developed to identify copy number variants (CNVs) from whole exome (WES) and whole genome sequencing (WGS) data. Current tools such as XHMM for WES and CNVnator for WGS identify CNVs based on changes in read depth. For WGS, o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08bef4ac6ee8a7093980493526ed2de5
https://europepmc.org/articles/PMC6022753/
https://europepmc.org/articles/PMC6022753/