Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Cynthia L. Neben"'
Autor:
Eric Venner, Donna Muzny, Joshua D. Smith, Kimberly Walker, Cynthia L. Neben, Christina M. Lockwood, Phillip E. Empey, Ginger A. Metcalf, Chris Kachulis, The All of Us Research Program Regulatory Working Group, Sana Mian, Anjene Musick, Heidi L. Rehm, Steven Harrison, Stacey Gabriel, Richard A. Gibbs, Deborah Nickerson, Alicia Y. Zhou, Kimberly Doheny, Bradley Ozenberger, Scott E. Topper, Niall J. Lennon
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-13 (2022)
Abstract Background The All of Us Research Program (AoURP, “the program”) is an initiative, sponsored by the National Institutes of Health (NIH), that aims to enroll one million people (or more) across the USA. Through repeated engagement of part
Externí odkaz:
https://doaj.org/article/e910cd798cad40ff995d316fed013e1c
Autor:
Akl C. Fahed, Minxian Wang, Julian R. Homburger, Aniruddh P. Patel, Alexander G. Bick, Cynthia L. Neben, Carmen Lai, Deanna Brockman, Anthony Philippakis, Patrick T. Ellinor, Christopher A. Cassa, Matthew Lebo, Kenney Ng, Eric S. Lander, Alicia Y. Zhou, Sekar Kathiresan, Amit V. Khera
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-9 (2020)
Genetic variation predisposes to disease via monogenic and polygenic risk variants. Here, the authors assess the interplay between these types of variation on disease penetrance in 80,928 individuals. In carriers of monogenic variants, they show that
Externí odkaz:
https://doaj.org/article/accfd73a30f24117b30c06b2df4acd2d
Autor:
Carol Cremin, Michael Kuan‐Ching Lee, Quan Hong, Carolyn Hoeschen, Anna Mackenzie, Katherine Dixon, Mary McCullum, Jennifer Nuk, Steve Kalloger, Joanna Karasinska, Charles Scudamore, Peter T. W. Kim, Fergal Donnellan, Eric C. S. Lam, Howard J. Lim, Cynthia L. Neben, Will Stedden, Alicia Y. Zhou, David F. Schaeffer, Sophie Sun, Daniel J. Renouf, Kasmintan A. Schrader
Publikováno v:
Cancer Medicine, Vol 9, Iss 11, Pp 4004-4013 (2020)
Abstract Background Recent guidelines recommend consideration of germline testing for all newly diagnosed pancreatic ductal adenocarcinoma (PDAC). The primary aim of this study was to determine the burden of hereditary cancer susceptibility in PDAC.
Externí odkaz:
https://doaj.org/article/a38eee8038c145bca6e089a2e23891bb
Autor:
Julian R. Homburger, Cynthia L. Neben, Gilad Mishne, Alicia Y. Zhou, Sekar Kathiresan, Amit V. Khera
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-12 (2019)
Abstract Background Inherited susceptibility to common, complex diseases may be caused by rare, pathogenic variants (“monogenic”) or by the cumulative effect of numerous common variants (“polygenic”). Comprehensive genome interpretation shoul
Externí odkaz:
https://doaj.org/article/47339bfe7b8a4608881ffa2876af6a9b
Autor:
Dimitri J. Maamari, Deanna G. Brockman, Krishna Aragam, Renée C. Pelletier, Emma Folkerts, Cynthia L. Neben, Sydney Okumura, Leland E. Hull, Anthony A. Philippakis, Pradeep Natarajan, Patrick T. Ellinor, Kenney Ng, Alicia Y. Zhou, Amit V. Khera, Akl C. Fahed
Publikováno v:
JACC advances. 1(3)
State-of-the-art genetic risk interpretation for a common complex disease such as coronary artery disease (CAD) requires assessment for both monogenic variants-such as those related to familial hypercholesterolemia-as well as the cumulative impact of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a5ab547a2cffdfa069b4bfe1a45e50c
https://pubmed.ncbi.nlm.nih.gov/36147540
https://pubmed.ncbi.nlm.nih.gov/36147540
Autor:
Maha El Shahawy, Claes-Göran Reibring, Cynthia L Neben, Kristina Hallberg, Pauline Marangoni, Brian D Harfe, Ophir D Klein, Anders Linde, Amel Gritli-Linde
Publikováno v:
PLoS Genetics, Vol 13, Iss 7, p e1006914 (2017)
The interaction between signaling pathways is a central question in the study of organogenesis. Using the developing murine tongue as a model, we uncovered unknown relationships between Sonic hedgehog (SHH) and retinoic acid (RA) signaling. Genetic l
Externí odkaz:
https://doaj.org/article/d6baf2148aa04c528da442fa61250873
Publikováno v:
PLoS Genetics, Vol 12, Iss 7, p e1006187 (2016)
Ribosome biogenesis is a global process required for growth and proliferation of all cells, yet perturbation of ribosome biogenesis during human development often leads to tissue-specific defects termed ribosomopathies. Transcription of the ribosomal
Externí odkaz:
https://doaj.org/article/ee91939c13c04448964b73e21c1fa893
Autor:
Peter T Kim, Quan Hong, Lim Howard John, Anna Mackenzie, Carol Cremin, Katherine Dixon, Cynthia L. Neben, Mary McCullum, Sophie Sun, Will Stedden, Kasmintan A. Schrader, Steve E. Kalloger, Eric C S Lam, David F. Schaeffer, Alicia Y. Zhou, Michael K.C. Lee, Joanna M. Karasinska, Carolyn Hoeschen, Jennifer Nuk, D.J. Renouf, Charles H. Scudamore, Fergal Donnellan
Publikováno v:
Cancer Medicine, Vol 9, Iss 11, Pp 4004-4013 (2020)
Cancer Medicine
Cancer Medicine
Background Recent guidelines recommend consideration of germline testing for all newly diagnosed pancreatic ductal adenocarcinoma (PDAC). The primary aim of this study was to determine the burden of hereditary cancer susceptibility in PDAC. A seconda
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea73c7632f79f522d80f5e3bfcc5039
https://doi.org/10.1002/cam4.2973
https://doi.org/10.1002/cam4.2973
Autor:
Eric, Venner, Donna, Muzny, Joshua D, Smith, Kimberly, Walker, Cynthia L, Neben, Christina M, Lockwood, Phillip E, Empey, Ginger A, Metcalf, Chris, Kachulis, Sana, Mian, Anjene, Musick, Heidi L, Rehm, Steven, Harrison, Stacey, Gabriel, Richard A, Gibbs, Deborah, Nickerson, Alicia Y, Zhou, Kimberly, Doheny, Bradley, Ozenberger, Scott E, Topper, Niall J, Lennon
Publikováno v:
Genome medicine. 14(1)
Background The All of Us Research Program (AoURP, “the program”) is an initiative, sponsored by the National Institutes of Health (NIH), that aims to enroll one million people (or more) across the USA. Through repeated engagement of participants,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08b0797028f2bc4e8fdfad42e7e8e761
https://pubmed.ncbi.nlm.nih.gov/35346344
https://pubmed.ncbi.nlm.nih.gov/35346344
Autor:
Anthony A. Philippakis, Julian R. Homburger, Patrick T. Ellinor, Amit Khera, Eric S. Lander, Sekar Kathiresan, Alexander G. Bick, Matthew S. Lebo, Deanna Brockman, Kenney Ng, Akl C. Fahed, Cynthia L. Neben, Minxian Wang, Aniruddh P. Patel, Christopher A. Cassa, Carmen Lai, Alicia Y. Zhou
Publikováno v:
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-9 (2020)
Nature Communications, Vol 11, Iss 1, Pp 1-9 (2020)
Genetic variation can predispose to disease both through (i) monogenic risk variants that disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that involves many variants of small effect in different pathways. Few studie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e88d95ac0a9b130d5bd47c01df010e75
http://europepmc.org/articles/PMC7441381
http://europepmc.org/articles/PMC7441381