Výsledky vyhledávání - Timothy W Yu

Modified Sensory Testing in Non-verbal Patients Receiving Novel Intrathecal Therapies for Neurological Disorders Autor Laura Cornelissen, Laura Cornelissen, Carolina Donado, Carolina Donado, Timothy W. Yu, Timothy W. Yu, Charles B. Berde, Charles B. Berde

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Integrating rapid exome sequencing into NICU clinical care after a pilot research study Autor Alissa M. D’Gama, Maya C. Del Rosario, Mairead A. Bresnahan, Timothy W. Yu, Monica H. Wojcik, Pankaj B. Agrawal

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ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia 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

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RNA targeting therapy for a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death Autor Sean R. Golinski, Karla Soriano, Alex C. Briegel, Madeline C. Burke, Sheng Tang, Gemma L. Carvill, Emma Sherrill, Claudia Lentucci, Timothy W. Yu, Tojo Nakayama, Ruilong Hu, Richard S. Smith

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Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. Autor Maria H Chahrour, Timothy W Yu, Elaine T Lim, Bulent Ataman, Michael E Coulter, R Sean Hill, Christine R Stevens, Christian R Schubert, ARRA Autism Sequencing Collaboration, Michael E Greenberg, Stacey B Gabriel, Christopher A Walsh

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Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication Autor Andrew Kodani, Timothy W Yu, Jeffrey R Johnson, Divya Jayaraman, Tasha L Johnson, Lihadh Al-Gazali, Lāszló Sztriha, Jennifer N Partlow, Hanjun Kim, Alexis L Krup, Alexander Dammermann, Nevan J Krogan, Christopher A Walsh, Jeremy F Reiter

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CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry 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

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From roadmap to a sustainable end-to-end individualized therapy pathway Autor Anneliene H. Jonker, Elena-Alexandra Tataru, David P. Dimmock, Alison Bateman-House, Holm Graessner, Gareth Baynam, Erika F. Augustine, Adam Jaffe, Anna M. G. Pasmooij, Oxana Iliach, Richard Horgan, James Davies, Shruti Mitkus, Larissa Lapteva, Matthis Synofzik, Timothy W. Yu, Daniel O’Connor, Annemieke Aartsma-Rus

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The BabySeq project: implementing genomic sequencing in newborns 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

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Patient-Oriented Priorities for Pediatric Erythromelalgia: A Priority-Setting Process Autor Don Daniel Ocay, Meghan Halpin, Ella Ford, Karen Keighley, Neva Keighley, Nikki Ramsay, Tayla Ramsay, Camelia M. Sheridan, Sarah M. Sheridan, Kirsten R. Tice, Deirdre De Ranieri, See Wan Tham, Catherine A. Brownstein, Jacqui Clinch, Dawn Marie Davis, Carolina Donado, Genevieve D’Souza, Deepa Kattail, Kimberly Lobo, Danielle Ravetti, Paola Sandroni, Jennifer N. Stinson, Gary A. Walco, Suellen M. Walker, Timothy W. Yu, Charles B. Berde

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Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models 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

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Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy Autor Francesca Bertino, Diletta Isabella Zanin Venturini, Eleonora Grasso, Joanna Kopecka, Chiara Salio, Barbara Gnutti, Ram Manohar Basnet, Stefania Bellini, Luca Mignani, Boxun Zhao, Felix Kleefeld, Andreas Hentschel, Francesca Magnani, Veronica Fiorito, Raluca Elena Abalai, Livia Metani, Anna Lucia Allocco, Sara Petrillo, Francesco De Giorgio, Giorgia Ammirata, Ettore Salsano, Davide Pareyson, Maja di Rocco, Angela Abicht, Emily McCourt, Rita Horvath, Heike Kölbel, Austin Larson, Andreas Roos, Timothy W. Yu, Dario Finazzi, Chiara Riganti, Emanuela Tolosano, Deborah Chiabrando

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Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study 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

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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms 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

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