Zobrazeno 1 - 10
of 102
pro vyhledávání: '"Ryan A. Doan"'
Autor:
Courtney E. French, Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra, Janet Chou, Wendy K. Chung, Alissa M. D’Gama, Ryan N. Doan, Darius Ebrahimi-Fakhari, Richard D. Goldstein, Mira Irons, Christina Jacobsen, Margaret Kenna, Ted Lee, Jill A. Madden, Amar J. Majmundar, Nina Mann, Sarah U. Morton, Annapurna Poduri, Adrienne G. Randolph, Amy E. Roberts, Stephanie Roberts, Matthew G. Sampson, Diane D. Shao, Wanqing Shao, Aditi Sharma, Eliot Shearer, Akiko Shimamura, Scott B. Snapper, Siddharth Srivastava, Jay R. Thiagarajah, Mary C. Whitman, Monica H. Wojcik, Shira Rockowitz, Piotr Sliz
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Abstract Boston Children’s Hospital has established a genomic sequencing and analysis research initiative to improve clinical care for pediatric rare disease patients. Through the Children’s Rare Disease Collaborative (CRDC), the hospital offers
Externí odkaz:
https://doaj.org/article/cadfa6ccd3c944fa81c99d9a0a2dceb6
Autor:
Ming Hui Chen, Ellen S. Deng, Jessica M. Yamada, Sangita Choudhury, Julia Scotellaro, Lily Kelley, Eric Isselbacher, Mark E. Lindsay, Christopher A. Walsh, Ryan N. Doan
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 14 (2024)
Background Thoracic aortic aneurysm (TAA) is associated with significant morbidity and mortality. Although individuals with family histories of TAA often undergo clinical molecular genetic testing, adults with nonsyndromic TAA are not typically evalu
Externí odkaz:
https://doaj.org/article/882e211948344b91ba18864ae800da39
Autor:
Ryan N. Doan, Michael B. Miller, Sonia N. Kim, Rachel E. Rodin, Javier Ganz, Sara Bizzotto, Katherine S. Morillo, August Yue Huang, Reethika Digumarthy, Zachary Zemmel, Christopher A. Walsh
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-13 (2021)
Abstract Background Mosaic mutations contribute to numerous human disorders. As such, the identification and precise quantification of mosaic mutations is essential for a wide range of research applications, clinical diagnoses, and early detection of
Externí odkaz:
https://doaj.org/article/de03a89522464b34b6f79cef29533b42
Autor:
Christopher A. Walsh, Eunjung Alice Lee, Keith L. Ligon, Zinan Zhou, Junho Kim, Taehwan Shin, Connor J. Kenny, Ryan N. Doan, Sara Bizzotto, Basheer Becerra, Eduardo A. Maury, Javier Ganz
Although oncogenic mutations have been found in nondiseased, proliferative nonneural tissues, their prevalence in the human brain is unknown. Targeted sequencing of genes implicated in brain tumors in 418 samples derived from 110 individuals of varyi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b4a3b60c4603eef9fa601b3dd2d9ac5
https://doi.org/10.1158/2159-8290.c.6549419
https://doi.org/10.1158/2159-8290.c.6549419
Autor:
Christopher A. Walsh, Eunjung Alice Lee, Keith L. Ligon, Zinan Zhou, Junho Kim, Taehwan Shin, Connor J. Kenny, Ryan N. Doan, Sara Bizzotto, Basheer Becerra, Eduardo A. Maury, Javier Ganz
Supplementary methods and figures.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39ab71f7c8214f073ec415f6b72e593a
https://doi.org/10.1158/2159-8290.22540592
https://doi.org/10.1158/2159-8290.22540592
Autor:
Christopher A. Walsh, Eunjung Alice Lee, Keith L. Ligon, Zinan Zhou, Junho Kim, Taehwan Shin, Connor J. Kenny, Ryan N. Doan, Sara Bizzotto, Basheer Becerra, Eduardo A. Maury, Javier Ganz
Supplementary information related to panel sequencing.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d865f897bd3f76bbc29ff28a1e13fd9
https://doi.org/10.1158/2159-8290.22540589
https://doi.org/10.1158/2159-8290.22540589
Autor:
Christopher A. Walsh, Sara Bizzotto, Peter J. Park, Min-Seok Kwon, Craig L. Bohrson, Ryan N. Doan, Sonia N. Kim, Alexej Abyzov, Yanmei Dou, Javier Ganz, Taejeong Bae
Publikováno v:
Science. 371:1249-1253
Mutations provide an enduring record Somatic mutations pepper our cells with change, but because they are not in the germline, they do not propagate to the next generation. Bizzotto et al. leveraged data on the distribution of somatic mutations in ad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17a6872c8b416a283583dd08ba4bb398
https://doi.org/10.1126/science.abe1544
https://doi.org/10.1126/science.abe1544
Autor:
Ryan N. Doan, Kelly M. Girskis, Rachel E. Rodin, Doga Gulhan, Sonia N. Kim, Craig L. Bohrson, Yanmei Dou, Peter J. Park, Christopher A. Walsh, Alissa M. D'Gama, Maxwell A. Sherman, Lariza M. Rento, Min-Seok Kwon, Ajay Nadig, Lovelace J. Luquette
Publikováno v:
Nat Neurosci
Nature neuroscience
Nature neuroscience
We characterize the landscape of somatic mutations-mutations occurring after fertilization-in the human brain using ultra-deep (~250×) whole-genome sequencing of prefrontal cortex from 59 donors with autism spectrum disorder (ASD) and 15 control don
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::117bfd0231f91aee5992cb5d2e5a14db
https://doi.org/10.1038/s41593-020-00765-6
https://doi.org/10.1038/s41593-020-00765-6
Autor:
Anh Thu N. Lam, Sarah Servattalab, Michael E. Greenberg, R. Sean Hill, Bhaven K. Mehta, Timothy W. Yu, Guzman Sanchez-Schmitz, Kyriacos Markianos, Klaus Schmitz-Abe, Ryan N. Doan, Maria H. Chahrour, Bulent Ataman, Christopher A. Walsh, Eric M. Morrow
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Scientific Reports
Scientific Reports
More than 98% of the human genome is made up of non-coding DNA, but techniques to ascertain its contribution to human disease have lagged far behind our understanding of protein coding variations. Autism spectrum disorder (ASD) has been mostly associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbf03fb399b2b487c72c2bdae3023198
http://link.springer.com/article/10.1038/s41598-020-70656-0
http://link.springer.com/article/10.1038/s41598-020-70656-0
Autor:
Gary S. Johnson, Sandra Hancock, Garrett Bullock, Scott V. Dindot, Brian F. Porter, Ryan N. Doan, Derick B. Whitley, Jonathan M. Levine, Bernard S. Jortner, Andy Ambrus, Samantha C. St. Jean
Publikováno v:
Veterinary pathology. 59(1)
Canine multiple system degeneration (CMSD) is a progressive hereditary neurodegenerative disorder commonly characterized by neuronal degeneration and loss in the cerebellum, olivary nuclei, substantia nigra, and caudate nuclei. In this article, we de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66275d75d9fc21b38a8da4f074a9f285
https://pubmed.ncbi.nlm.nih.gov/34490804
https://pubmed.ncbi.nlm.nih.gov/34490804