Hakutulokset - Yu, Timothy W

From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation Tekijä Holm, Ingrid A., Yu, Timothy W., Joffe, Steven

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

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Dentate Granule Cell Neurogenesis Is Increased by Seizures and Contributes to Aberrant Network Reorganization in the Adult Rat Hippocampus Tekijä Parent, Jack M., Yu, Timothy W., Leibowitz, Rebecca T., Geschwind, Daniel H., Sloviter, Robert S., Lowenstein, Daniel H.

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Rare variant association test in family-based sequencing studies Tekijä Wang, Xuefeng, Zhang, Zhenyu, Morris, Nathan, Cai, Tianxi, Lee, Seunggeun, Wang, Chaolong, Yu, Timothy W, Walsh, Christopher A, Lin, Xihong

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Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism Tekijä Chahrour, Maria H., Yu, Timothy W., Lim, Elaine T., Ataman, Bulent, Coulter, Michael E., Hill, R. Sean, Stevens, Christine R., Schubert, Christian R., Greenberg, Michael E., Gabriel, Stacey B., Walsh, Christopher A.

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BRAT1 Mutations Present with a Spectrum of Clinical Severity Tekijä Srivastava, Siddharth, Olson, Heather E., Cohen, Julie S., Gubbels, Cynthia S., Lincoln, Sharyn, Davis, Brigette Tippin, Shahmirzadi, Layla, Gupta, Siddharth, Picker, Jonathan, Yu, Timothy W., Miller, David T., Soul, Janet S., Poretti, Andrea, Naidu, SakkuBai

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Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2 Tekijä Mitsuhashi, Satomi, Boyden, Steven E, Estrella, Elicia A, Jones, Takako I, Rahimov, Fedik, Yu, Timothy W, Darras, Basil T, Amato, Anthony A, Folkerth, Rebecca D, Jones, Peter L, Kunkel, Louis M, Kang, Peter B

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Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition Tekijä Brownstein, Catherine A., Towne, Meghan C., Luquette, Lovelace J., Harris, David J., Marinakis, Nicholas S., Meinecke, Peter, Kutsche, Kerstin, Campeau, Philippe M., Yu, Timothy W., Margulies, David M., Agrawal, Pankaj B., Beggs, Alan H.

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Microcephaly proteins Wdr62 and Aspm define a mother centriole complex regulating centriole biogenesis, apical complex and cell fate Tekijä Jayaraman, Divya, Kodani, Andrew, Gonzalez, Dilenny M., Mancias, Joseph D., Mochida, Ganeshwaran H., Vagnoni, Cristiana, Johnson, Jeffrey, Krogan, Nevan, Harper, J. Wade, Reiter, Jeremy F., Yu, Timothy W., Bae, Byoung-il, Walsh, Christopher A.

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Discordant Results Between Conventional Newborn Screening and Genomic Sequencing in the BabySeq Project Tekijä Wojcik, Monica H, Zhang, Tian, Ceyhan-Birsoy, Ozge, Genetti, Casie A, Lebo, Matthew S., Yu, Timothy W, Parad, Richard B, Holm, Ingrid A, Rehm, Heidi L, Beggs, Alan H, Green, Robert C, Agrawal, Pankaj B

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Infant Mortality: the Contribution of Genetic Disorders Tekijä Wojcik, Monica H., Schwartz, Talia S., Thiele, Katri E., Paterson, Heather, Stadelmaier, Rachel, Mullen, Thomas E., VanNoy, Grace E., Genetti, Casie A., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Tan, Wen-Hann, Agrawal, Pankaj B.

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

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Recessive gene disruptions in autism spectrum disorder Tekijä Doan, Ryan N, Lim, Elaine T., De Rubeis, Silvia, Betancur, Catalina, Cutler, David J., Chiocchetti, Andreas G., Overman, Lynne M., Soucy, Aubrie, Goetze, Susanne, Freitag, Christine M., Daly, Mark J., Walsh, Christopher A., Buxbaum, Joseph D., Yu, Timothy W.

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POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations Tekijä Di Costanzo, Stefania, Balasubramanian, Anuradha, Pond, Heather L., Rozkalne, Anete, Pantaleoni, Chiara, Saredi, Simona, Gupta, Vandana A., Sunu, Christine M., Yu, Timothy W., Kang, Peter B., Salih, Mustafa A., Mora, Marina, Gussoni, Emanuela, Walsh, Christopher A., Manzini, M. Chiara

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Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder Tekijä Schmitz-Abe, Klaus, Sanchez-Schmitz, Guzman, Doan, Ryan N., Hill, R. Sean, Chahrour, Maria H., Mehta, Bhaven K., Servattalab, Sarah, Ataman, Bulent, Lam, Anh-Thu N., Morrow, Eric M., Greenberg, Michael E., Yu, Timothy W., Walsh, Christopher A., Markianos, Kyriacos

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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture Tekijä Yu, Timothy W., Mochida, Ganeshwaran H., Tischfield, David J., Sgaier, Sema K., Flores-Sarnat, Laura, Sergi, Consolato M., Topçu, Meral, McDonald, Marie T., Barry, Brenda J., Felie, Jillian, Sunu, Christine, Dobyns, William B., Folkerth, Rebecca D., Barkovich, A. James, Walsh, Christopher A.

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Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project Tekijä Ceyhan-Birsoy, Ozge, Murry, Jaclyn B., Machini, Kalotina, Lebo, Matthew S., Yu, Timothy W., Fayer, Shawn, Genetti, Casie A., Schwartz, Talia S., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy L., Green, Robert C., Rehm, Heidi L., Beggs, Alan H.

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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield Tekijä Gubbels, Cynthia S., VanNoy, Grace E., Madden, Jill A., Copenheaver, Deborah, Yang, Sandra, Wojcik, Monica H., Gold, Nina B., Genetti, Casie A., Stoler, Joan, Parad, Richard B., Roumiantsev, Sergei, Bodamer, Olaf, Beggs, Alan H., Juusola, Jane, Agrawal, Pankaj B., Yu, Timothy W.

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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes Tekijä Schmitz-Abe, Klaus, Li, Qifei, Rosen, Samantha M., Nori, Neeharika, Madden, Jill A., Genetti, Casie A., Wojcik, Monica H., Ponnaluri, Sadhana, Gubbels, Cynthia S., Picker, Jonathan D., O’Donnell-Luria, Anne H., Yu, Timothy W., Bodamer, Olaf, Brownstein, Catherine A., Beggs, Alan H., Agrawal, Pankaj B.

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A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia Tekijä Smedemark-Margulies, Niklas, Brownstein, Catherine A., Vargas, Sigella, Tembulkar, Sahil K., Towne, Meghan C., Shi, Jiahai, Gonzalez-Cuevas, Elisa, Liu, Kevin X., Bilguvar, Kaya, Kleiman, Robin J., Han, Min-Joon, Torres, Alcy, Berry, Gerard T., Yu, Timothy W., Beggs, Alan H., Agrawal, Pankaj B., Gonzalez-Heydrich, Joseph

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