Zobrazeno 1 - 10
of 311
pro vyhledávání: '"Daniel P, Judge"'
Autor:
Elizabeth T. Cirulli, Kelly M. Schiabor Barrett, Alexandre Bolze, Daniel P. Judge, Pamala A. Pawloski, Joseph J. Grzymski, William Lee, Nicole L. Washington
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100284- (2024)
Summary: Systematic determination of novel variant pathogenicity remains a major challenge, even when there is an established association between a gene and phenotype. Here we present Power Window (PW), a sliding window technique that identifies the
Externí odkaz:
https://doaj.org/article/ffcb428f5ebf4f868608483d17c12616
Autor:
Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E. Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M. McNally, Daniel P. Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S. Ware
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)
Abstract Background As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in
Externí odkaz:
https://doaj.org/article/b19fec6981b54abc9f8f6edd48178160
Autor:
Caitlin G. Allen, Katherine Sterba, Samantha Norman, Amy Jackson, Kelly J. Hunt, Lori McMahon, Daniel P. Judge
Publikováno v:
Implementation Science Communications, Vol 4, Iss 1, Pp 1-13 (2023)
Abstract Introduction Population-wide genomic screening for CDC Tier-1 conditions offers the ability to identify the 1–2% of the US population at increased risk for Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterol
Externí odkaz:
https://doaj.org/article/453a55a949ee4cfab99ab2744b282f33
Autor:
Kamsi O. Odinammadu, Khurts Shilagardi, Kelsey Tuminelli, Daniel P. Judge, Leslie B. Gordon, Susan Michaelis
Publikováno v:
Nucleus, Vol 14, Iss 1 (2023)
ABSTRACTSeveral related progeroid disorders are caused by defective post-translational processing of prelamin A, the precursor of the nuclear scaffold protein lamin A, encoded by LMNA. Prelamin A undergoes farnesylation and additional modifications a
Externí odkaz:
https://doaj.org/article/c5bee2a67c0b43ac858a3d1638630f27
Autor:
Caitlin G. Allen, Daniel P. Judge, Elissa Levin, Katherine Sterba, Kelly Hunt, Paula S. Ramos, Cathy Melvin, Karen Wager, Kenneth Catchpole, Catherine Clinton, Marvella Ford, Lori L. McMahon, Leslie Lenert
Publikováno v:
Implementation Science Communications, Vol 3, Iss 1, Pp 1-11 (2022)
Abstract Background In 2021, the Medical University of South Carolina (MUSC) partnered with Helix, a population genetic testing company, to offer population-wide genomic screening for Centers for Disease Control and Preventions’ Tier 1 conditions o
Externí odkaz:
https://doaj.org/article/e7189fd031e44f9c80f1b38a288f6094
Autor:
Jose Nativi‐Nicolau, Daniel P. Judge, James E. Hoffman, Balarama Gundapaneni, Denis Keohane, Marla B. Sultan, Martha Grogan
Publikováno v:
ESC Heart Failure, Vol 8, Iss 5, Pp 3875-3884 (2021)
Abstract Aims Transthyretin amyloid cardiomyopathy (ATTR‐CM) is a progressive, fatal disorder that remains underdiagnosed. The Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR‐ACT) was the first large clinical trial to include both
Externí odkaz:
https://doaj.org/article/ed6c657b00124d18852e9f82fb9d24d3
Autor:
Hanyu Ni, Elizabeth Jordan, Daniel D. Kinnamon, Jinwen Cao, Garrie J. Haas, Mark Hofmeyer, Evan Kransdorf, Gregory A. Ewald, Alanna A. Morris, Anjali Owens, Brian Lowes, Douglas Stoller, W.H. Wilson Tang, Sonia Garg, Barry H. Trachtenberg, Palak Shah, Salpy V. Pamboukian, Nancy K. Sweitzer, Matthew T. Wheeler, Jane E. Wilcox, Stuart Katz, Stephen Pan, Javier Jimenez, Daniel P. Fishbein, Frank Smart, Jessica Wang, Stephen S. Gottlieb, Daniel P. Judge, Charles K. Moore, Gordon S. Huggins, Ray E. Hershberger
Publikováno v:
Journal of the American College of Cardiology. 81:2059-2071
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::85ed9eaa5e043cef5ad4a75d21bac488
https://doi.org/10.1016/j.jacc.2023.03.419
https://doi.org/10.1016/j.jacc.2023.03.419
Autor:
Calum A MacRae, Matthew RG Taylor, Luisa Mestroni, John Moses, Euan A Ashley, Matthew T Wheeler, Neal K Lakdawala, Ray E Hershberger, Victor Sandor, Michael E Saunders, Colleen Oliver, Patrice A Lee, Daniel P Judge
Publikováno v:
Future Cardiology. 19:55-63
What is this plain language summary about? This plain language summary describes the results of a study looking at the effects of a medicine called ARRY-371797 (also known as PF-07265803) in people with dilated cardiomyopathy (DCM for short) caused b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44c3ea9309bcacf880b826a8ce8c19a3
https://doi.org/10.2217/fca-2022-0099
https://doi.org/10.2217/fca-2022-0099
Autor:
Paul J. Scheel, Roberta Florido, Steven Hsu, Brittney Murray, Crystal Tichnell, Cynthia A. James, Julia Agafonova, Harikrishna Tandri, Daniel P. Judge, Stuart D. Russell, Ryan J. Tedford, Hugh Calkins, Nisha A. Gilotra
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 3 (2020)
Background Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is characterized by high arrhythmic burden and progressive heart failure, which can prompt referral for heart transplantation. Cardiopulmonary exercise testing (CPET) has a
Externí odkaz:
https://doaj.org/article/e9cf71d0c23345a6a7c8f2609ba76eec
Autor:
Gun-Sik Cho, Dong I. Lee, Emmanouil Tampakakis, Sean Murphy, Peter Andersen, Hideki Uosaki, Stephen Chelko, Khalid Chakir, Ingie Hong, Kinya Seo, Huei-Sheng Vincent Chen, Xiongwen Chen, Cristina Basso, Steven R. Houser, Gordon F. Tomaselli, Brian O’Rourke, Daniel P. Judge, David A. Kass, Chulan Kwon
Publikováno v:
Cell Reports, Vol 18, Iss 2, Pp 571-582 (2017)
Summary: Pluripotent stem cells (PSCs) offer unprecedented opportunities for disease modeling and personalized medicine. However, PSC-derived cells exhibit fetal-like characteristics and remain immature in a dish. This has emerged as a major obstacle
Externí odkaz:
https://doaj.org/article/04ac548333594c669d794d791d77417d