Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Alice C, Young"'
Autor:
Yongxing Zhou, Raman Sood, Qun Wang, Blake Carrington, Morgan Park, Alice C. Young, Daniel Birnbaum, Zhao Liu, Tetsuo Ashizawa, James C. Mullikin, Mohamad Z. Koubeissi, Paul Liu
Publikováno v:
Epilepsia Open, Vol 6, Iss 1, Pp 102-111 (2021)
Abstract Objective Our goal was to perform detailed clinical and genomic analysis of a large multigenerational Chinese family with 21 individuals showing symptoms of Familial Cortical Myoclonic Tremor with Epilepsy (FCMTE) that we have followed for o
Externí odkaz:
https://doaj.org/article/d7380d695a6f4adcaf36dcac20e3d784
Autor:
Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, Nicolas Altemose, Lev Uralsky, Ariel Gershman, Sergey Aganezov, Savannah J. Hoyt, Mark Diekhans, Glennis A. Logsdon, Michael Alonge, Stylianos E. Antonarakis, Matthew Borchers, Gerard G. Bouffard, Shelise Y. Brooks, Gina V. Caldas, Nae-Chyun Chen, Haoyu Cheng, Chen-Shan Chin, William Chow, Leonardo G. de Lima, Philip C. Dishuck, Richard Durbin, Tatiana Dvorkina, Ian T. Fiddes, Giulio Formenti, Robert S. Fulton, Arkarachai Fungtammasan, Erik Garrison, Patrick G. S. Grady, Tina A. Graves-Lindsay, Ira M. Hall, Nancy F. Hansen, Gabrielle A. Hartley, Marina Haukness, Kerstin Howe, Michael W. Hunkapiller, Chirag Jain, Miten Jain, Erich D. Jarvis, Peter Kerpedjiev, Melanie Kirsche, Mikhail Kolmogorov, Jonas Korlach, Milinn Kremitzki, Heng Li, Valerie V. Maduro, Tobias Marschall, Ann M. McCartney, Jennifer McDaniel, Danny E. Miller, James C. Mullikin, Eugene W. Myers, Nathan D. Olson, Benedict Paten, Paul Peluso, Pavel A. Pevzner, David Porubsky, Tamara Potapova, Evgeny I. Rogaev, Jeffrey A. Rosenfeld, Steven L. Salzberg, Valerie A. Schneider, Fritz J. Sedlazeck, Kishwar Shafin, Colin J. Shew, Alaina Shumate, Ying Sims, Arian F. A. Smit, Daniela C. Soto, Ivan Sović, Jessica M. Storer, Aaron Streets, Beth A. Sullivan, Françoise Thibaud-Nissen, James Torrance, Justin Wagner, Brian P. Walenz, Aaron Wenger, Jonathan M. D. Wood, Chunlin Xiao, Stephanie M. Yan, Alice C. Young, Samantha Zarate, Urvashi Surti, Rajiv C. McCoy, Megan Y. Dennis, Ivan A. Alexandrov, Jennifer L. Gerton, Rachel J. O’Neill, Winston Timp, Justin M. Zook, Michael C. Schatz, Evan E. Eichler, Karen H. Miga, Adam M. Phillippy
Publikováno v:
Science (New York, N.Y.), vol 376, iss 6588
Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T) Con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57a90349d97678f40cdb370a46304d2d
https://doi.org/10.1126/science.abj6987
https://doi.org/10.1126/science.abj6987
Autor:
Blake Carrington, Yongxing Zhou, Paul P. Liu, Zhao Liu, Morgan Park, Tetsuo Ashizawa, Alice C. Young, Daniel P. Birnbaum, Raman Sood, Qun Wang, Mohamad Z. Koubeissi, James C. Mullikin
Publikováno v:
Epilepsia Open, Vol 6, Iss 1, Pp 102-111 (2021)
Objective Our goal was to perform detailed clinical and genomic analysis of a large multigenerational Chinese family with 21 individuals showing symptoms of Familial Cortical Myoclonic Tremor with Epilepsy (FCMTE) that we have followed for over 20 ye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c8eb6e15220fa98e9dd452fc3f9807c
https://doi.org/10.1002/epi4.12450
https://doi.org/10.1002/epi4.12450
Autor:
Sean Conlan, Morgan Park, Clayton Deming, Pamela J. Thomas, Alice C. Young, Holly Coleman, Christina Sison, Rebecca A. Weingarten, Anna F. Lau, John P. Dekker, Tara N. Palmore, Karen M. Frank, Julia A. Segre
Publikováno v:
mBio, Vol 7, Iss 3 (2016)
ABSTRACT Carbapenem-resistant Klebsiella pneumoniae strains are formidable hospital pathogens that pose a serious threat to patients around the globe due to a rising incidence in health care facilities, high mortality rates associated with infection,
Externí odkaz:
https://doaj.org/article/9a8bf545fee74e25a9ca4f743bea2d40
Autor:
Amy R Bentley, Guanjie Chen, Daniel Shriner, Ayo P Doumatey, Jie Zhou, Hanxia Huang, James C Mullikin, Robert W Blakesley, Nancy F Hansen, Gerard G Bouffard, Praveen F Cherukuri, Baishali Maskeri, Alice C Young, Adebowale Adeyemo, Charles N Rotimi
Publikováno v:
PLoS Genetics, Vol 10, Iss 3, p e1004190 (2014)
Although a considerable proportion of serum lipids loci identified in European ancestry individuals (EA) replicate in African Americans (AA), interethnic differences in the distribution of serum lipids suggest that some genetic determinants differ by
Externí odkaz:
https://doaj.org/article/a6ff9c59fd2b4be3a0fefce070b59727
Autor:
Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Andrey V. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, Nicolas Altemose, Lev Uralsky, Ariel Gershman, Sergey Aganezov, Savannah J. Hoyt, Mark Diekhans, Glennis A. Logsdon, Michael Alonge, Stylianos E. Antonarakis, Matthew Borchers, Gerard G. Bouffard, Shelise Y. Brooks, Gina V. Caldas, Haoyu Cheng, Chen-Shan Chin, William Chow, Leonardo G. de Lima, Philip C. Dishuck, Richard Durbin, Tatiana Dvorkina, Ian T. Fiddes, Giulio Formenti, Robert S. Fulton, Arkarachai Fungtammasan, Erik Garrison, Patrick G.S. Grady, Tina A. Graves-Lindsay, Ira M. Hall, Nancy F. Hansen, Gabrielle A. Hartley, Marina Haukness, Kerstin Howe, Michael W. Hunkapiller, Chirag Jain, Miten Jain, Erich D. Jarvis, Peter Kerpedjiev, Melanie Kirsche, Mikhail Kolmogorov, Jonas Korlach, Milinn Kremitzki, Heng Li, Valerie V. Maduro, Tobias Marschall, Ann M. McCartney, Jennifer McDaniel, Danny E. Miller, James C. Mullikin, Eugene W. Myers, Nathan D. Olson, Benedict Paten, Paul Peluso, Pavel A. Pevzner, David Porubsky, Tamara Potapova, Evgeny I. Rogaev, Jeffrey A. Rosenfeld, Steven L. Salzberg, Valerie A. Schneider, Fritz J. Sedlazeck, Kishwar Shafin, Colin J. Shew, Alaina Shumate, Yumi Sims, Arian F. A. Smit, Daniela C. Soto, Ivan Sović, Jessica M. Storer, Aaron Streets, Beth A. Sullivan, Françoise Thibaud-Nissen, James Torrance, Justin Wagner, Brian P. Walenz, Aaron Wenger, Jonathan M. D. Wood, Chunlin Xiao, Stephanie M. Yan, Alice C. Young, Samantha Zarate, Urvashi Surti, Rajiv C. McCoy, Megan Y. Dennis, Ivan A. Alexandrov, Jennifer L. Gerton, Rachel J. O’Neill, Winston Timp, Justin M. Zook, Michael C. Schatz, Evan E. Eichler, Karen H. Miga, Adam M. Phillippy
In 2001, Celera Genomics and the International Human Genome Sequencing Consortium published their initial drafts of the human genome, which revolutionized the field of genomics. While these drafts and the updates that followed effectively covered the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a01c9a160fe87e3a4ab72701aa8a9141
https://doi.org/10.1101/2021.05.26.445798
https://doi.org/10.1101/2021.05.26.445798
Autor:
Sirintorn Stantripop, Sean Black, Ricardo D’Oliveira Albanus, S. L. Ho, John P. Didion, Beatrice B. Barnabas, Francis S. Collins, Brian P. Schmidt, Peter Orchard, Quino Maduro, Casandra Montemayor, Christina Sison, Karen L. Mohlke, Hannah J Perrin, K. Alaine Broadaway, Alice C. Young, Juyun Kim, Morgan Park, Laura J. Scott, Swarooparani Vadlamudi, Erin G. Schuetz, Karen Schandler, Narisu Narisu, James W. Thomas, Richelle Legaspi, Shelise Brooks, Gerard G. Bouffard, Joel Han, Federico Innocenti, Nancy Riebow, Vivek Rai, Lyudmila Dekhtyar, James C. Mullikin, Stephen C. J. Parker, Michael R. Erdos, Holly Coleman, Tingfen Yan, Catherine A. Masiello, Lori L. Bonnycastle, Jacqueline R. Idol, Amarjit S. Chaudhry, Jennifer C. McDowell, Kevin W Currin, Meghana Vemulapalli, Pamela J. Thomas, Amy S. Etheridge
Publikováno v:
Am J Hum Genet
Identifying the molecular mechanisms by which genome-wide association study (GWAS) loci influence traits remains challenging. Chromatin accessibility quantitative trait loci (caQTLs) help identify GWAS loci that may alter GWAS traits by modulating ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bebdd55fe1d80ed53db25b6e571c5a0
https://pubmed.ncbi.nlm.nih.gov/34038741
https://pubmed.ncbi.nlm.nih.gov/34038741
Autor:
Yongxing, Zhou, Raman, Sood, Qun, Wang, Blake, Carrington, Morgan, Park, Alice C, Young, Daniel, Birnbaum, Zhao, Liu, Tetsuo, Ashizawa, James C, Mullikin, Mohamad Z, Koubeissi, Paul, Liu
Publikováno v:
Epilepsia Open
Objective Our goal was to perform detailed clinical and genomic analysis of a large multigenerational Chinese family with 21 individuals showing symptoms of Familial Cortical Myoclonic Tremor with Epilepsy (FCMTE) that we have followed for over 20 ye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a8499caa46fab6a693e555c6e2b77118
https://pubmed.ncbi.nlm.nih.gov/33681653
https://pubmed.ncbi.nlm.nih.gov/33681653
Autor:
Laura Elnitski, Gennady Margolin, Alice C. Young, Hanna M. Petrykowska, Nader Jameel, Daphne W. Bell
Publikováno v:
The Journal of Molecular Diagnostics. 18:283-298
Sites that display recurrent, aberrant DNA methylation in cancer represent potential biomarkers for screening and diagnostics. Previously, we identified hypermethylation at the ZNF154 CpG island in 15 solid epithelial tumor types from 13 different or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b668459344104377885c4c9ad09623a
https://doi.org/10.1016/j.jmoldx.2015.11.004
https://doi.org/10.1016/j.jmoldx.2015.11.004
Autor:
Carsten G. Bönnemann, Francis J. McMahon, Quino Maduro, Alan T. Remaley, Brian P. Brooks, Sirintorn Stantripop, Jennifer C. McDowell, Kendall L. Umstead, Gerard G. Bouffard, Erin Turbitt, Catherine A. Masiello, Karen Schandler, Jeffrey Baron, Jennifer J. Johnston, Beatrice B. Barnabas, Richelle Legaspi, James W. Thomas, Holly Coleman, Eileen Pelayo, Barbara B. Biesecker, D. Nadine Dogbe, Ilias Alevizos, Joel Moss, W. Marston Linehan, Helen C. Su, Casandra Montemayor, Brian Schmidt, Alice C. Young, Morgan Park, Meghana Vemulapalli, Richard M. Siegel, Pamela J. Thomas, Chanthra Scharer, Youn Hee Jee, Deborah Nielsen, Carlos A. Zarate, Christina Sison, Leslie G. Biesecker, Alexis R Heidlebaugh, Sandra Donkervoort, Nancy Riebow, Shelise Brooks, James C. Mullikin, Teri A. Manolio, Julie C. Sapp, Xiaobin Guan, Ane Miren Sagardia, S. L. Ho, Kate Driscoll, Joel Han, Lyudmila Dekhtyar
© 2018 While consensus regarding the return of secondary genomic findings in the clinical setting has been reached, debate about such findings in the research setting remains. We developed a hybrid, research-clinical translational genomics process f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f8f30234ebb7d1b8ff21c42057bf2c8
https://europepmc.org/articles/PMC6128311/
https://europepmc.org/articles/PMC6128311/