Zobrazeno 1 - 10
of 28
pro vyhledávání: '"David M McKean"'
Autor:
Xuefeng Wang, Igor Puzanov, Abdul Rafeh Naqash, Ahmad A Tarhini, George J Weiner, Phaedra Agius, Margaret E Gatti-Mays, Howard Colman, Aik Choon Tan, Issam El Naqa, Timothy I Shaw, Aakrosh Ratan, Martin D McCarter, John Carpten, Susanne M Arnold, Michelle Churchman, Michael D Radmacher, Oliver A Hampton, David M McKean, Daniel R Elgort, Robert J Rounbehler, Donghai Dai, Tingyi Li, William S Dalton
Publikováno v:
Journal for ImmunoTherapy of Cancer, Vol 11, Iss Suppl 1 (2023)
Externí odkaz:
https://doaj.org/article/801cbc91062449379d40afd58c6cfbc8
Autor:
Alejandro Martin-Trujillo, Nihir Patel, Felix Richter, Bharati Jadhav, Paras Garg, Sarah U Morton, David M McKean, Steven R DePalma, Elizabeth Goldmuntz, Dorota Gruber, Richard Kim, Jane W Newburger, George A Porter, Alessandro Giardini, Daniel Bernstein, Martin Tristani-Firouzi, Jonathan G Seidman, Christine E Seidman, Wendy K Chung, Bruce D Gelb, Andrew J Sharp
Publikováno v:
PLoS Genetics, Vol 16, Iss 11, p e1009189 (2020)
Although DNA methylation is the best characterized epigenetic mark, the mechanism by which it is targeted to specific regions in the genome remains unclear. Recent studies have revealed that local DNA methylation profiles might be dictated by cis-reg
Externí odkaz:
https://doaj.org/article/7a65eca1218d4480a5e676161b9f759c
Autor:
Min Young Jang, Parth N. Patel, Alexandre C. Pereira, Jon A.L. Willcox, Alireza Haghighi, Angela C. Tai, Kaoru Ito, Sarah U. Morton, Joshua M. Gorham, David M. McKean, Steven R. DePalma, Daniel Bernstein, Martina Brueckner, Wendy K. Chung, Alessandro Giardini, Elizabeth Goldmuntz, Jonathan R. Kaltman, Richard Kim, Jane W. Newburger, Yufeng Shen, Deepak Srivastava, Martin Tristani-Firouzi, Bruce D. Gelb, George A. Porter, Christine E. Seidman, Jonathan G. Seidman
Publikováno v:
Circulation: Genomic and Precision Medicine.
BACKGROUND: Known genetic causes of congenital heart disease (CHD) explain METHODS: We tested de novo variants from trio studies of 2649 CHD probands and their parents, as well as rare (allele frequency, − 6 ) variants from 4472 CHD probands in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3850b1978608906ee6433dfae530c335
https://doi.org/10.1161/circgen.122.003924
https://doi.org/10.1161/circgen.122.003924
Autor:
Joshua M. Gorham, Christine E. Seidman, Steve Depalma, Andrew J. Sharp, A Kitaygorodksy, Sarah U. Morton, Alessandro Giardini, Wendy K. Chung, Bruce D. Gelb, Jonathan G. Seidman, Yufeng Shen, Felix Richter, Nihir Patel, Gabriel E. Hoffman, Eric E. Schadt, David M. McKean, K B Manheimer, George A. Porter
Publikováno v:
Bioinformatics
Motivation Non-coding rare variants (RVs) may contribute to Mendelian disorders but have been challenging to study due to small sample sizes, genetic heterogeneity and uncertainty about relevant non-coding features. Previous studies identified RVs as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cd18745e36a2c45186627665af26df2
https://doi.org/10.1093/bioinformatics/btz202
https://doi.org/10.1093/bioinformatics/btz202
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, 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:
Kaoru Ito, Angela C. Tai, Min Young Jang, Alexandre C. Pereira, Jon G. Seidman, David M. McKean, Joshua M. Gorham, Christine E. Seidman, Parth N Patel
Publikováno v:
Circulation Research. 125
Rationale: Congenital heart disease (CHD) occurs in about 1 in 100 live births, yet known genetic causes explain less than 20% of CHD cases. While variants that cause frameshift, nonsense, start/stop site gain or loss, and canonical splice site alter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::724f2f932b131667a81fa5bfd101ed0f
https://doi.org/10.1161/res.125.suppl_1.467
https://doi.org/10.1161/res.125.suppl_1.467
Autor:
Joshua M. Gorham, Christine E. Seidman, Tarsha Ward, Arun Sharma, Min Young Jang, Alexandre C. Pereira, Jon G. Seidman, Radhika Agarwal, David M. McKean, Daniel Reichart, Daniel M. DeLaughter
Publikováno v:
Circulation Research. 125
Rationale: Neural crest cells (NCCs) play a critical role in normal cardiac development, and defects in NCCs likely cause congenital heart disease (CHD). NCCs are transient and multipotent migratory stem cells that give rise to diverse tissues, inclu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c95747dfbfffcb2d16ca1617a602c86d
https://doi.org/10.1161/res.125.suppl_1.210
https://doi.org/10.1161/res.125.suppl_1.210
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Autor:
Josh Gorham, David M. McKean, Stephen Sanders, Elizabeth Goldmuntz, Francesc López-Giráldez, Angela Romano-Adesman, Kaya Bilguvar, James S. Ware, Jonathan G. Seidman, Mark J. Daly, Amy E. Roberts, Konrad J. Karczewski, J. William Gaynor, Richard P. Lifton, Christine E. Seidman, Mark W. Russell, Hongjian Qi, Steven R. DePalma, Jonathan R. Kaltman, Michael Ronemus, Badri N. Vardarajan, Alessandro Giardini, Ivan Iossifov, Roger E. Breitbart, Jason Homsy, Shrikant Mane, Richard B. Kim, Wendy K. Chung, George A. Porter, Samir Zaidi, Hiroko Wakimoto, Jane W. Newburger, Bruce D. Gelb, Kaitlin E. Samocha, Lijiang Ma, Martina Brueckner, Yufeng Shen, Seema Mital, John E. Deanfield, Sheng Chih Jin, Irina Tikhonova
Publikováno v:
Science. 350:1262-1266
Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-da
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e461e6bf887216791adccac7e7818af
https://doi.org/10.1126/science.aac9396
https://doi.org/10.1126/science.aac9396
Autor:
Daniel Bernstein, Steven R. DePalma, George A. Porter, Alejandro Martin-Trujillo, Bruce D. Gelb, Sarah U. Morton, Nihir Patel, Bharati Jadhav, Elizabeth Goldmuntz, David M. McKean, Felix Richter, Paras Garg, Martin Tristani-Firouzi, Jonathan G. Seidman, Christine E. Seidman, Alessandro Giardini, Jane W. Newburger, Wendy K. Chung, Andrew J. Sharp, Dorota Gruber, Richard B. Kim
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 16, Iss 11, p e1009189 (2020)
PLoS Genetics, Vol 16, Iss 11, p e1009189 (2020)
Although DNA methylation is the best characterized epigenetic mark, the mechanism by which it is targeted to specific regions in the genome remains unclear. Recent studies have revealed that local DNA methylation profiles might be dictated by cis-reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af9708bf4a7f6440340522e3c9440657
https://doi.org/10.1371/journal.pgen.1009189
https://doi.org/10.1371/journal.pgen.1009189