Search Results - "Yu, Timothy"

Intercity ridesharing to the rescue: Capacity flexibility and price stability of BlaBlaCar during the 2018 French railway strike by Yeung, Timothy Yu-Cheong, Zhu, Dianzhuo

“…The increased usage of alternative transportation modes during public transportation disruptions has been well documented in the literature. While many papers…”
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A solid start for gene therapy in Tay–Sachs disease by Yu, Timothy W., Bodamer, Olaf

“…A ‘gene addition’ strategy shows promise in a first-in-human trial involving two infant patients…”
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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) by Manickam, Kandamurugu, McClain, Monica R., Demmer, Laurie A., Biswas, Sawona, Kearney, Hutton M., Malinowski, Jennifer, Massingham, Lauren J., Miller, Danny, Yu, Timothy W., Hisama, Fuki M.

“…Purpose To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one…”
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Recessive gene disruptions in autism spectrum disorder by 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.

“…Autism spectrum disorder (ASD) affects up to 1 in 59 individuals 1 . Genome-wide association and large-scale sequencing studies strongly implicate both common…”
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Brain-Eating Amoebae: Predilection Sites in the Brain and Disease Outcome by Ong, Timothy Yu Yee, Khan, Naveed Ahmed, Siddiqui, Ruqaiyyah

“…spp. and are causative agents of granulomatous amoebic encephalitis (GAE), while causes primary amoebic meningoencephalitis (PAM). PAM is an acute infection…”
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N-of-1 Studies in an Era of Precision Medicine by Augustine, Erika F, Yu, Timothy W, Finkel, Richard S

“…This JAMA Insights in the Genomics and Precision Health series examines N-of-1 trials, a term used to describe studies in small numbers of individuals or a…”
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Common genetic variants, acting additively, are a major source of risk for autism by Klei, Lambertus, Sanders, Stephan J, Murtha, Michael T, Hus, Vanessa, Lowe, Jennifer K, Willsey, A Jeremy, Moreno-De-Luca, Daniel, Yu, Timothy W, Fombonne, Eric, Geschwind, Daniel, Grice, Dorothy E, Ledbetter, David H, Lord, Catherine, Mane, Shrikant M, Martin, Christa Lese, Martin, Donna M, Morrow, Eric M, Walsh, Christopher A, Melhem, Nadine M, Chaste, Pauline, Sutcliffe, James S, State, Matthew W, Cook, Jr, Edwin H, Roeder, Kathryn, Devlin, Bernie

“…Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication,…”
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Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism by 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

“…Although autism has a clear genetic component, the high genetic heterogeneity of the disorder has been a challenge for the identification of causative genes…”
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Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project by 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., Agrawal, Pankaj B., Beggs, Alan H., Betting, Wendi N., Ceyhan-Birsoy, Ozge, Christensen, Kurt D., Dukhovny, Dmitry, Fayer, Shawn, Frankel, Leslie A., Genetti, Casie A., Graham, Chet, Green, Robert C., Guiterrez, Amanda M., Harden, Maegan, Holm, Ingrid A., Krier, Joel B., Lebo, Matthew S., Levy, Harvey L., Lu, Xingquan, Machini, Kalotina, McGuire, Amy L., Murry, Jaclyn B., Naik, Medha, Nguyen, Tiffany T., Parad, Richard B., Peoples, Hayley A., Pereira, Stacey, Petersen, Devan, Ramamurthy, Uma, Ramanathan, Vivek, Rehm, Heidi L., Roberts, Amy, Robinson, Jill O., Roumiantsev, Serguei, Schwartz, Talia S., Truong, Tina K., VanNoy, Grace E., Waisbren, Susan E., Yu, Timothy W.

“…Genomic sequencing provides many opportunities in newborn clinical care, but the challenges of interpreting and reporting newborn genomic sequencing (nGS)…”
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Sailing Away From the Pyramid: A Revised Visual Representation of Maslow’s Theory Z by Yu, Timothy T. F.

“…Maslow’s hierarchy of needs, in its pyramidal representation, is one of the most recognizable visual figures in psychology and management. Recently, there have…”
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Clinical explainable differential diagnosis of polypoidal choroidal vasculopathy and age-related macular degeneration using deep learning by Ma, Da, Kumar, Meenakshi, Khetan, Vikas, Sen, Parveen, Bhende, Muna, Chen, Shuo, Yu, Timothy T.L., Lee, Sieun, Navajas, Eduardo V., Matsubara, Joanne A., Ju, Myeong Jin, Sarunic, Marinko V., Raman, Rajiv, Beg, Mirza Faisal

“…This study aims to achieve an automatic differential diagnosis between two types of retinal pathologies with similar pathological features - Polypoidal…”
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A framework for individualized splice-switching oligonucleotide therapy by Kim, Jinkuk, Woo, Sijae, de Gusmao, Claudio M., Zhao, Boxun, Chin, Diana H., DiDonato, Renata L., Nguyen, Minh A., Nakayama, Tojo, Hu, Chunguang April, Soucy, Aubrie, Kuniholm, Ashley, Thornton, Jennifer Karlin, Riccardi, Olivia, Friedman, Danielle A., El Achkar, Christelle Moufawad, Dash, Zane, Cornelissen, Laura, Donado, Carolina, Faour, Kamli N. W., Bush, Lynn W., Suslovitch, Victoria, Lentucci, Claudia, Park, Peter J., Lee, Eunjung Alice, Patterson, Al, Philippakis, Anthony A., Margus, Brad, Berde, Charles B., Yu, Timothy W.

“…Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of individuals with genetic diseases 1 , but the systematic identification…”
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Segmentation-guided domain adaptation and data harmonization of multi-device retinal optical coherence tomography using cycle-consistent generative adversarial networks by Chen, Shuo, Ma, Da, Lee, Sieun, Yu, Timothy T.L., Xu, Gavin, Lu, Donghuan, Popuri, Karteek, Ju, Myeong Jin, Sarunic, Marinko V., Beg, Mirza Faisal

“…Medical images such as Optical Coherence Tomography (OCT) images acquired from different devices may show significantly different intensity profiles. An…”
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A pseudovirus system enables deep mutational scanning of the full SARS-CoV-2 spike by Dadonaite, Bernadeta, Crawford, Katharine H.D., Radford, Caelan E., Farrell, Ariana G., Yu, Timothy C., Hannon, William W., Zhou, Panpan, Andrabi, Raiees, Burton, Dennis R., Liu, Lihong, Ho, David D., Chu, Helen Y., Neher, Richard A., Bloom, Jesse D.

“…A major challenge in understanding SARS-CoV-2 evolution is interpreting the antigenic and functional effects of emerging mutations in the viral spike protein…”
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Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate by 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.

“…Mutations in several genes encoding centrosomal proteins dramatically decrease the size of the human brain. We show that Aspm (abnormal spindle-like,…”
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Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia by Zhao, Boxun, Nguyen, Minh A., Woo, Sijae, Kim, Jinkuk, Yu, Timothy W., Lee, Eunjung Alice

“…Certain classes of genetic variation still escape detection in clinical sequencing analysis. One such class is retroelement insertion, which has been reported…”
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Measuring Christian Religiosity by Google Trends by Yeung, Timothy Yu-Cheong

“…This work proposes a new method to construct a measure of religiosity by utilizing information obtained from Google Trends. The proposed measure, named…”
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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci by Sanders, Stephan J., He, Xin, Willsey, A. Jeremy, Ercan-Sencicek, A. Gulhan, Samocha, Kaitlin E., Cicek, A. Ercument, Murtha, Michael T., Bal, Vanessa H., Bishop, Somer L., Dong, Shan, Goldberg, Arthur P., Jinlu, Cai, Keaney, John F., Klei, Lambertus, Mandell, Jeffrey D., Moreno-De-Luca, Daniel, Poultney, Christopher S., Robinson, Elise B., Smith, Louw, Solli-Nowlan, Tor, Su, Mack Y., Teran, Nicole A., Walker, Michael F., Werling, Donna M., Beaudet, Arthur L., Cantor, Rita M., Fombonne, Eric, Geschwind, Daniel H., Grice, Dorothy E., Lord, Catherine, Lowe, Jennifer K., Mane, Shrikant M., Martin, Donna M., Morrow, Eric M., Talkowski, Michael E., Sutcliffe, James S., Walsh, Christopher A., Yu, Timothy W., Ledbetter, David H., Martin, Christa Lese, Cook, Edwin H., Buxbaum, Joseph D., Daly, Mark J., Devlin, Bernie, Roeder, Kathryn, State, Matthew W.

“…Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with…”
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Somatic Mutations in Cerebral Cortical Malformations by Jamuar, Saumya S, Lam, Anh-Thu N, Kircher, Martin, D’Gama, Alissa M, Wang, Jian, Barry, Brenda J, Zhang, Xiaochang, Hill, Robert Sean, Partlow, Jennifer N, Rozzo, Aldo, Servattalab, Sarah, Mehta, Bhaven K, Topcu, Meral, Amrom, Dina, Andermann, Eva, Dan, Bernard, Parrini, Elena, Guerrini, Renzo, Scheffer, Ingrid E, Berkovic, Samuel F, Leventer, Richard J, Shen, Yiping, Wu, Bai Lin, Barkovich, A. James, Sahin, Mustafa, Chang, Bernard S, Bamshad, Michael, Nickerson, Deborah A, Shendure, Jay, Poduri, Annapurna, Yu, Timothy W, Walsh, Christopher A

“…Somatic mutations can cause brain malformations but may escape detection if their prevalence in blood is low. The authors of this study used deep-coverage…”
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RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront by Vanlerberghe, Clémence, Frénois, Frédéric, Smol, Thomas, Jourdain, Anne-Sophie, Escande, Fabienne, Aït-Yahya, Emilie, Aldeeri, Abdulrahman A., Yu, Timothy W., Cormier-Daire, Valérie, Ghoumid, Jamal, Jacob, Maureen, Newbury-Ecob, Ruth, Manouvrier, Sylvie, Platon, Jessica, Sailer, Sebastian, Brunelle, Perrine, Da Costa, Lydie, Petit, Florence

“…Diamond-Blackfan anemia syndrome (DBS) is a rare congenital disorder originally characterized by bone marrow failure with or without various congenital…”
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