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)
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Recessive gene disruptions in autism spectrum disorder
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.
Published in Nature genetics (01.07.2019)
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Brain-Eating Amoebae: Predilection Sites in the Brain and Disease Outcome
Ong, Timothy Yu Yee, Khan, Naveed Ahmed, Siddiqui, Ruqaiyyah
Published in Journal of clinical microbiology (01.07.2017)
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N-of-1 Studies in an Era of Precision Medicine
Augustine, Erika F, Yu, Timothy W, Finkel, Richard S
Published in JAMA : the journal of the American Medical Association (25.09.2024)
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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
Published in Molecular autism (15.10.2012)
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Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
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
Published in PLoS genetics (01.04.2012)
Published in PLoS genetics (01.04.2012)
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Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
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.
Published in American journal of human genetics (03.01.2019)
Published in American journal of human genetics (03.01.2019)
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Clinical explainable differential diagnosis of polypoidal choroidal vasculopathy and age-related macular degeneration using deep learning
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
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A framework for individualized splice-switching oligonucleotide therapy
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.
Published in Nature (London) (27.07.2023)
Published in Nature (London) (27.07.2023)
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Segmentation-guided domain adaptation and data harmonization of multi-device retinal optical coherence tomography using cycle-consistent generative adversarial networks
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
Published in Computers in biology and medicine (01.06.2023)
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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.
Published in Cell (16.03.2023)
Published in Cell (16.03.2023)
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Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate
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.
Published in Neuron (Cambridge, Mass.) (23.11.2016)
Published in Neuron (Cambridge, Mass.) (23.11.2016)
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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
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.
Published in Neuron (Cambridge, Mass.) (23.09.2015)
Published in Neuron (Cambridge, Mass.) (23.09.2015)
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Published in The New England journal of medicine (21.08.2014)
Published in The New England journal of medicine (21.08.2014)
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