Zobrazeno 1 - 10
of 10
pro vyhledávání: '"David S. Hanna"'
Autor:
David E. Gray, Michael O. Dorschner, Matthew S. Lebo, Nikhil Wagle, Ellen A. Tsai, Avni Santani, Heidi L. Rehm, Sean McGee, Mahdi Sarmady, Andrew Dunford, Celine S. Hong, Levi A. Garraway, Kimberly Walker, Deborah A. Nickerson, Carrie Cibulskis, Joshua Sailsbery, David S. Hanna, Dan R. Robinson, Lucia A. Hindorff, Christian J. Buhay, Rashesh Sanghvi, Leslie G. Biesecker, Kevin M. Bowling, Ariella Sasson, Carolyn M. Hutter, Bradford C. Powell, Gregory M. Cooper, Christine Brennan, Donna M. Muzny, Mauricio O. Carneiro, Robert J. Lonigro
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PURPOSE: As massively parallel sequencing is increasingly being used for clinical decision-making, it has become critical to understand parameters that affect sequencing quality and to establish methods for measuring and reporting clinical sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73d1a19bcf40f57ef0569ea2f430efd4
https://doi.org/10.1038/gim.2017.192
https://doi.org/10.1038/gim.2017.192
Autor:
Michael Sacher, Avraham Shaag, Michael O. Dorschner, Miroslav P. Milev, David S. Hanna, Christopher J. Hale, Ian A. Glass, Yong-Han Hank Cheng, Dan Doherty, Keshika Prematilake, Simon Edvardson, Megan E. Grout, Djenann Saint-Dic, Orly Elpeleg
Publikováno v:
The American Journal of Human Genetics. 101:291-299
Progressive childhood encephalopathy is an etiologically heterogeneous condition characterized by progressive central nervous system dysfunction in association with a broad range of morbidity and mortality. The causes of encephalopathy can be either
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85e5f522a128713f6cf0a9c6ec9ebff4
https://doi.org/10.1016/j.ajhg.2017.07.006
https://doi.org/10.1016/j.ajhg.2017.07.006
Autor:
Ilenia Zara, Magdalena Zoledziewska, Chris Jones, Laura Crisponi, Josh Smith, Riccardo Berutti, Deborah A. Nickerson, Roberto Cusano, Serena Sanna, Manuela Oppo, Decio Cerimele, Maria A. Montesu, Francesco Cucca, Andrea Angius, M. Valentini, David S. Hanna, Rosanna Satta, Frederic Reinier, Francesca Cottoni
Publikováno v:
Metabolism. 64:1530-1540
Background Lipodystrophies are a large heterogeneous group of genetic or acquired disorders characterized by generalized or partial fat loss, usually associated with metabolic complications such as diabetes mellitus, hypertriglyceridemia and hepatic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44d58b5053457bc377f9a55691d98f8
https://doi.org/10.1016/j.metabol.2015.07.022
https://doi.org/10.1016/j.metabol.2015.07.022
Autor:
Joshua D. Smith, Sara L. Van Driest, Jessica T. Delaney, Elaine R. Mardis, Yu Shyr, Peter Weeke, Jonathan D. Mosley, Christian M. Shaffer, Andrea H. Ramirez, Yan Guo, Deborah A. Nickerson, Dan M. Roden, Prince J. Kannankeril, David S. Hanna, Alfred L. George, Jason H. Karnes, Kris Norris, Christie Ingram, Quinn S. Wells
Publikováno v:
Journal of the American College of Cardiology. 63(14):1430-1437
ObjectivesThe aim of this study was to test the hypothesis that rare variants are associated with drug-induced long QT interval syndrome (diLQTS) and torsades de pointes.BackgrounddiLQTS is associated with the potentially fatal arrhythmia torsades de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf89b039bbe012a1e93d244aa367bcb2
Autor:
Emilia Gatto, Patricio Chrem Mendez, David S. Hanna, Michael O. Dorschner, Ignacio F. Mata, Ezequiel Surace, Cyrus P. Zabetian, Ricardo F. Allegri, Gustavo Da Prat
Publikováno v:
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
REDICUC-Repositorio CUC
Corporación Universidad de la Costa
instacron:Corporación Universidad de la Costa
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
REDICUC-Repositorio CUC
Corporación Universidad de la Costa
instacron:Corporación Universidad de la Costa
Frontotemporal lobar degeneration is a neuropathological disorder that causes a variety of clinical syndromes including frontotemporal dementia (FTD), progressive supranuclear palsy, and corticobasal syndrome (CBS). FTD associated with parkinsonism o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5469c35a11b525df605d66ba7e4a93f1
https://www.sciencedirect.com/science/article/pii/S0197458017300374
https://www.sciencedirect.com/science/article/pii/S0197458017300374
Autor:
Brenna Cholerton, James B. Leverenz, John W. Roberts, Miguel Inca-Martinez, Olga Klepitskaya, Fredy J. Revilla, Dora Yearout, Michael O. Dorschner, Donald S. Higgins, Ali Samii, Stewart A. Factor, Irene Litvan, David S. Hanna, Kwang-Soo Kim, Karen L. Edwards, Kathryn A. Chung, Yongwoo Jang, David Shprecher, Erica Martinez, Ignacio F. Mata, Tiffany R. Thompson, Pinky Agarwal, Cyrus P. Zabetian, Alberto J. Espay, Shu Ching Hu, Chun-Hyung Kim
Publikováno v:
Molecular Neurodegeneration
Objective To identify the causal gene in a multi-incident U.S. kindred with Parkinson’s disease (PD). Methods We characterized a family with a classical PD phenotype in which 7 individuals (5 males and 2 females) were affected with a mean age at on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4013b28e3b5699b5ce9c383f1caf8d5e
http://europepmc.org/articles/PMC4581468
http://europepmc.org/articles/PMC4581468
Autor:
Sarah A. McClymont, Carl Baker, Joshua D. Smith, Richard Sandstrom, John A. Stamatoyannopoulos, John Huddleston, Evan E. Eichler, Archana Raja, Elaine M. Faustman, Robert B. Darnell, Ivan Iossifov, Bradley J. Nelson, David S. Hanna, Fereydoun Hormozdiari, Deborah A. Nickerson, Tychele N. Turner, Paul W. Hook, Michael H. Duyzend, Kendra Hoekzema, Holly A.F. Stessman, Michael C. Zody, Michael J. Bamshad, Andrew S. McCallion, James M. Swanson
Publikováno v:
American journal of human genetics, vol 98, iss 1
We performed whole-genome sequencing (WGS) of 208 genomes from 53 families affected by simplex autism. For the majority of these families, no copy-number variant (CNV) or candidate de novo gene-disruptive single-nucleotide variant (SNV) had been dete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba9388c305ab651766cac0bcf2a1b179
https://pubmed.ncbi.nlm.nih.gov/26749308
https://pubmed.ncbi.nlm.nih.gov/26749308
Autor:
David R. Crosslin, James D. Ralston, Kathleen A. Leppig, Amber A. Burt, Andrea L. Hartzler, Iftikhar J. Kullo, Mariza de Andrade, Peggy D. Robertson, Eric Baldwin, Adam S. Gordon, Gerard Tromp, Stephanie M. Fullerton, Gail P. Jarvik, Paul K. Crane, David S. Hanna, David Carrell, Deborah A. Nickerson, Marylyn D. Ritchie, Aaron Scrol, Eric B. Larson, Kimberly F. Doheny
Publikováno v:
Genome Medicine
Background In an effort to return actionable results from variant data to electronic health records (EHRs), participants in the Electronic Medical Records and Genomics (eMERGE) Network are being sequenced with the targeted Pharmacogenomics Research N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0d63bc26d015d623cb7dc520b82e051
https://doi.org/10.1186/s13073-015-0181-z
https://doi.org/10.1186/s13073-015-0181-z
Autor:
Joshua C. Denny, E. Baldwin, Christopher S. Carlson, Abel N. Kho, Amber A. Burt, J. B. Harley, G. Armstrong, Kenneth M. Borthwick, David S. Hanna, Bryan A. Comstock, Daniel Seung Kim, J. G. Underwood, Peggy L. Peissig, Erwin B. Bottinger, Paul K. Crane, Kimberley F. Doheny, M. G. Hayes, Shefali S. Verma, Gerard Tromp, Dana C. Crawford, Brendan J. Keating, Catherine A. McCarty, Sarah C. Stallings, Jennifer A. Pacheco, Robert J. Carroll, Gail P. Jarvik, Eric B. Larson, Shubhabrata Mukherjee, Daniel B. Mirel, Rongling Li, David R. Crosslin, David Carrell, Iftikhar J. Kullo, Elizabeth W. Pugh, M. De Andrade, Marylyn D. Ritchie, Helena Kuivaniemi
Publikováno v:
Genes and immunity, vol 16, iss 1
Genes and Immunity
Genes and Immunity
Herpes zoster, commonly referred to as shingles, is caused by the varicella zoster virus (VZV). VZV initially manifests as chicken pox, most commonly in childhood, can remain asymptomatically latent in nerve tissues for many years and often re-emerge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a523ba4c30dd3ba8a5f5e20c2896dce9
https://escholarship.org/uc/item/0j91d15n
https://escholarship.org/uc/item/0j91d15n
Autor:
Robert Yetka, Raymond Bula, Louis S. Stodieck, Alexander Hoehn, David S. Hanna, Michael B. Horner, A. Gerard Heyenga, Sasha W. Forsyth, Dale J. Chamberlain, Paul Todd, Paul Scovazzo, Mark Kliss
Publikováno v:
Space technology and applications international forum (STAIF - 97).
PGBA, a plant growth facility developed for space flight biotechnology research, successfully grew a total of 30 plants in a closed, multi-crop chamber for 10 days aboard the Space Shuttle Endeavor (STS-77). Artemisia annua, Catharanthus roseus, Pinu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f6f1712c7140da8c1a47b21174a82a4
https://doi.org/10.1063/1.51916
https://doi.org/10.1063/1.51916