Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Timothy W, Yu"'
Autor:
Pankaj Agrawal, Vineet Bhandari, Casie A Genetti, Margaret Parker, Timothy Yu, Lawrence Rhein, Jessica Douglas, Bharati Sinha, Pankaj B Agrawal, Alissa M D'Gama, Sonia Hills, Vanessa Young, Monica H Wojcik, Henry A Feldman, Timothy W Yu, Margaret G Parker, Tyler Allcroft, Luis Cantu, Alissa M D’Gama, Dynio Honrubia, Amy Kritzer, Robert Rothstein, Odalys Salinas, Andres Santana, Anyssa Serna, Faye Shapiro, Anjana Bhami Shenoy, Lindsey Simoncini, Aubrie Soucy Verran, Anéya Sousa, Qifei Li, Catherine Brownstein, Klaus Schmitz-Abe, Marione Tamase Newsam
Publikováno v:
BMJ Open, Vol 14, Iss 2 (2024)
Introduction Rapid genomic sequencing (rGS) in critically ill infants with suspected genetic disorders has high diagnostic and clinical utility. However, rGS has primarily been available at large referral centres with the resources and expertise to o
Externí odkaz:
https://doaj.org/article/78ff633befbb42318bff4b3af4e76c91
Autor:
Jenny Lai, Didem Demirbas, Junho Kim, Ailsa M. Jeffries, Allie Tolles, Junseok Park, Thomas W. Chittenden, Patrick G. Buckley, Timothy W. Yu, Michael A. Lodato, Eunjung Alice Lee
Publikováno v:
Cell Reports, Vol 43, Iss 1, Pp 113622- (2024)
Summary: While ATM loss of function has long been identified as the genetic cause of ataxia-telangiectasia (A-T), how it leads to selective and progressive degeneration of cerebellar Purkinje and granule neurons remains unclear. ATM expression is enr
Externí odkaz:
https://doaj.org/article/bb2b0c8299d2444ab13e02b7f0a6bb28
Autor:
Luis A. Williams, David J. Gerber, Amy Elder, Wei Chou Tseng, Valeriya Baru, Nathaniel Delaney-Busch, Christina Ambrosi, Gauri Mahimkar, Vaibhav Joshi, Himali Shah, Karthiayani Harikrishnan, Hansini Upadhyay, Sakthi H. Rajendran, Aishwarya Dhandapani, Joshua Meier, Steven J. Ryan, Caitlin Lewarch, Lauren Black, Julie Douville, Stefania Cinquino, Helen Legakis, Karsten Nalbach, Christian Behrends, Ai Sato, Lorenzo Galluzzi, Timothy W. Yu, Duncan Brown, Sudhir Agrawal, David Margulies, Alan Kopin, Graham T. Dempsey
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 29, Iss , Pp 189-203 (2022)
Mutations in the TECPR2 gene are the cause of an ultra-rare neurological disorder characterized by intellectual disability, impaired speech, motor delay, and hypotonia evolving to spasticity, central sleep apnea, and premature death (SPG49 or HSAN9;
Externí odkaz:
https://doaj.org/article/555fd4156baf47509e8e7211947eb238
Autor:
Alissa M. D’Gama, Maya C. Del Rosario, Mairead A. Bresnahan, Timothy W. Yu, Monica H. Wojcik, Pankaj B. Agrawal
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract Genomic sequencing is a powerful diagnostic tool in critically ill infants, but performing exome or genome sequencing (ES/GS) in the context of a research study is different from implementing these tests clinically. We investigated the integ
Externí odkaz:
https://doaj.org/article/52eae31ec0ab493c8a7ee196e5b5dd77
Autor:
Elena-Sofia Heinl, Sebastian Lorenz, Barbara Schmidt, Nouf Nasser M Laqtom, Joseph R. Mazzulli, Laetitia Francelle, Timothy W. Yu, Benjamin Greenberg, Stephan Storch, Ines Tegtmeier, Helga Othmen, Katja Maurer, Malin Steinfurth, Ralph Witzgall, Vladimir Milenkovic, Christian H. Wetzel, Markus Reichold
Publikováno v:
iScience, Vol 25, Iss 10, Pp 105082- (2022)
Summary: The SARS-CoV-2 virus has triggered a worldwide pandemic. According to the BioGrid database, CLN7 (MFSD8) is thought to interact with several viral proteins. The aim of this work was to investigate a possible involvement of CLN7 in the infect
Externí odkaz:
https://doaj.org/article/edaf365365c74efab193fd8d1643bbfe
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Several neurological disorders may be amenable to treatment with gene-targeting therapies such as antisense oligonucleotides (ASOs) or viral vector-based gene therapy. The US FDA has approved several of these treatments; many others are in clinical t
Externí odkaz:
https://doaj.org/article/f010a62ed64d4555bcd5ce14c5ee7834
Autor:
Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatel
Externí odkaz:
https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fd
Autor:
Julie Lekstrom‐Himes, P J Brooks, Dwight D. Koeberl, Amy Brower, Aaron Goldenberg, Robert C. Green, Jill A. Morris, Joseph J. Orsini, Timothy W. Yu, Erika F. Augustine
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193:30-43
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a7c271e32f6e5b778a2f0b73435a23b
https://doi.org/10.1002/ajmg.c.32031
https://doi.org/10.1002/ajmg.c.32031
Autor:
Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L. Levy, Amy L. McGuire, Richard B. Parad, Peter J. Park, Stacey Pereira, Heidi L. Rehm, Talia S. Schwartz, Susan E. Waisbren, Timothy W. Yu, The BabySeq Project Team, Robert C. Green, Alan H. Beggs
Publikováno v:
BMC Pediatrics, Vol 18, Iss 1, Pp 1-10 (2018)
Abstract Background The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The “BabySeq Project” is a randomized trial that explores the medical, behavioral, and economic impacts of integrating genomic se
Externí odkaz:
https://doaj.org/article/ef710afcaf8e4d019d8c6869cf074068
Autor:
Timothy W. Yu, Stephen F. Kingsmore, Robert C. Green, Tippi MacKenzie, Melissa Wasserstein, Michele Caggana, Nina B. Gold, Annie Kennedy, Priya S. Kishnani, Matthew Might, Phillip J. Brooks, Jill A. Morris, Melissa A. Parisi, Tiina K. Urv
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193:7-12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ddb60c4e8bbec640d0d9bd8a1781dc9
https://doi.org/10.1002/ajmg.c.32029
https://doi.org/10.1002/ajmg.c.32029