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6. 100 Chinese Silences

Author

Yu, Timothy

Subjects
poetry, Asian American culture, racial stereotypes, orientalism, cultural appropriation, China, American literature, thema EDItEUR::D Biography, Literature and Literary studies::DC Poetry::DCF Poetry by individual poets, thema EDItEUR::D Biography, Literature and Literary studies::DC Poetry::DCC Modern and contemporary poetry (c 1900 onwards), thema EDItEUR::6 Style qualifiers::6N Styles (NO)::6NE Orientalism, thema EDItEUR::J Society and Social Sciences::JB Society and culture: general::JBC Cultural and media studies::JBCC Cultural studies::JBCC7 Cross-cultural / Intercultural studies and topics, thema EDItEUR::1 Place qualifiers::1F Asia::1FP East Asia, Far East::1FPC China
Abstract

There are one hundred kinds of Chinese silence: the silence of unknown grandfathers; the silence of borrowed Buddha and rebranded Confucius; the silence of alluring stereotypes and exotic reticence. These poems make those silences heard. Writing back to an “orientalist” tradition that has defined modern American poetry, these 100 Chinese silences unmask the imagined Asias of American literature, revealing the spectral Asian presence that haunts our most eloquent lyrics and self-satisfied wisdom. Rewriting poets from Ezra Pound and Marianne Moore to Gary Snyder and Billy Collins, this book is a sharply critical and wickedly humorous travesty of the modern canon, excavating the Asian (American) bones buried in our poetic language.

Published
2024
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12. NL4Opt Competition: Formulating Optimization Problems Based on Their Natural Language Descriptions

Author

Ramamonjison, Rindranirina, Yu, Timothy T., Li, Raymond, Li, Haley, Carenini, Giuseppe, Ghaddar, Bissan, He, Shiqi, Mostajabdaveh, Mahdi, Banitalebi-Dehkordi, Amin, Zhou, Zirui, and Zhang, Yong

Subjects
Computer Science - Computation and Language, Computer Science - Artificial Intelligence
Abstract

The Natural Language for Optimization (NL4Opt) Competition was created to investigate methods of extracting the meaning and formulation of an optimization problem based on its text description. Specifically, the goal of the competition is to increase the accessibility and usability of optimization solvers by allowing non-experts to interface with them using natural language. We separate this challenging goal into two sub-tasks: (1) recognize and label the semantic entities that correspond to the components of the optimization problem; (2) generate a meaning representation (i.e., a logical form) of the problem from its detected problem entities. The first task aims to reduce ambiguity by detecting and tagging the entities of the optimization problems. The second task creates an intermediate representation of the linear programming (LP) problem that is converted into a format that can be used by commercial solvers. In this report, we present the LP word problem dataset and shared tasks for the NeurIPS 2022 competition. Furthermore, we investigate and compare the performance of the ChatGPT large language model against the winning solutions. Through this competition, we hope to bring interest towards the development of novel machine learning applications and datasets for optimization modeling.

Published
2023

13. “It’s hard to wait”: Provider perspectives on current genomic care in safety-net NICUs

Author

Agrawal, Pankaj, Allcroft, Tyler, Bhandari, Vineet, Brownstein, Catherine, Cantu, Luis, Jr., D’Gama, Alissa M., Douglas, Jessica, Feldman, Henry A., Genetti, Casie A., Hills, Sonia, Honrubia, Dynio, Kritzer, Amy, Li, Qifei, Parker, Margaret, Rhein, Lawrence, Rothstein, Robert, Salinas, Odalys, Santana, Andres, Schmitz-Abe, Klaus, Serna, Anyssa, Shapiro, Faye, Shenoy, Anjana Bhami, Simoncini, Lindsey, Sinha, Bharati, Verran, Aubrie Soucy, Sousa, Anéya, Tamase Newsam, Marione, Wojcik, Monica H., Young, Vanessa, Yu, Timothy, Yu, Timothy W., Agrawal, Pankaj B., and Parker, Margaret G.

Published
2024
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14. Spectral Bandwidth Recovery of Optical Coherence Tomography Images using Deep Learning

Author

Yu, Timothy T., Ma, Da, Cole, Jayden, Ju, Myeong Jin, Beg, Mirza F., and Sarunic, Marinko V.

Subjects
Electrical Engineering and Systems Science - Image and Video Processing, Computer Science - Artificial Intelligence, Computer Science - Computer Vision and Pattern Recognition, Electrical Engineering and Systems Science - Signal Processing
Abstract

Optical coherence tomography (OCT) captures cross-sectional data and is used for the screening, monitoring, and treatment planning of retinal diseases. Technological developments to increase the speed of acquisition often results in systems with a narrower spectral bandwidth, and hence a lower axial resolution. Traditionally, image-processing-based techniques have been utilized to reconstruct subsampled OCT data and more recently, deep-learning-based methods have been explored. In this study, we simulate reduced axial scan (A-scan) resolution by Gaussian windowing in the spectral domain and investigate the use of a learning-based approach for image feature reconstruction. In anticipation of the reduced resolution that accompanies wide-field OCT systems, we build upon super-resolution techniques to explore methods to better aid clinicians in their decision-making to improve patient outcomes, by reconstructing lost features using a pixel-to-pixel approach with an altered super-resolution generative adversarial network (SRGAN) architecture.

Published
2023

17. Augmenting Operations Research with Auto-Formulation of Optimization Models from Problem Descriptions

Author

Ramamonjison, Rindranirina, Li, Haley, Yu, Timothy T., He, Shiqi, Rengan, Vishnu, Banitalebi-Dehkordi, Amin, Zhou, Zirui, and Zhang, Yong

Subjects
Computer Science - Computation and Language, Computer Science - Artificial Intelligence
Abstract

We describe an augmented intelligence system for simplifying and enhancing the modeling experience for operations research. Using this system, the user receives a suggested formulation of an optimization problem based on its description. To facilitate this process, we build an intuitive user interface system that enables the users to validate and edit the suggestions. We investigate controlled generation techniques to obtain an automatic suggestion of formulation. Then, we evaluate their effectiveness with a newly created dataset of linear programming problems drawn from various application domains., Comment: Accepted for presentation at the EMNLP 2022 Conference (industry track)

Published
2022

19. Segmentation-guided Domain Adaptation and Data Harmonization of Multi-device Retinal Optical Coherence Tomography using Cycle-Consistent Generative Adversarial Networks

Author

Chen, Shuo, Ma, Da, Lee, Sieun, Yu, Timothy T. L., Xu, Gavin, Lu, Donghuan, Popuri, Karteek, Ju, Myeong Jin, Sarunic, Marinko V., and Beg, Mirza Faisal

Subjects
Electrical Engineering and Systems Science - Image and Video Processing, Computer Science - Computer Vision and Pattern Recognition, Computer Science - Machine Learning
Abstract

Optical Coherence Tomography(OCT) is a non-invasive technique capturing cross-sectional area of the retina in micro-meter resolutions. It has been widely used as a auxiliary imaging reference to detect eye-related pathology and predict longitudinal progression of the disease characteristics. Retina layer segmentation is one of the crucial feature extraction techniques, where the variations of retinal layer thicknesses and the retinal layer deformation due to the presence of the fluid are highly correlated with multiple epidemic eye diseases like Diabetic Retinopathy(DR) and Age-related Macular Degeneration (AMD). However, these images are acquired from different devices, which have different intensity distribution, or in other words, belong to different imaging domains. This paper proposes a segmentation-guided domain-adaptation method to adapt images from multiple devices into single image domain, where the state-of-art pre-trained segmentation model is available. It avoids the time consumption of manual labelling for the upcoming new dataset and the re-training of the existing network. The semantic consistency and global feature consistency of the network will minimize the hallucination effect that many researchers reported regarding Cycle-Consistent Generative Adversarial Networks(CycleGAN) architecture., Comment: 16 pages, 10 figures

Published
2022

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

Author

Heinl, Elena-Sofia, Lorenz, Sebastian, Schmidt, Barbara, Laqtom, Nouf Nasser M, Mazzulli, Joseph R, Francelle, Laetitia, Yu, Timothy W, Greenberg, Benjamin, Storch, Stephan, Tegtmeier, Ines, Othmen, Helga, Maurer, Katja, Steinfurth, Malin, Witzgall, Ralph, Milenkovic, Vladimir, Wetzel, Christian H, and Reichold, Markus

Subjects
Medical Microbiology, Biomedical and Clinical Sciences, Biological Sciences, Biodefense, Infectious Diseases, Prevention, Vaccine Related, Emerging Infectious Diseases, Aetiology, 2.1 Biological and endogenous factors, Infection, Good Health and Well Being, Cell biology, Virology
Abstract

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 infection process. Experiments on a CLN7-deficient HEK293T cell line exhibited a 90% reduced viral load compared to wild-type cells. This observation may be linked to the finding that CLN7 ko cells have a significantly reduced GM1 content in their cell membrane. GM1 is found highly enriched in lipid rafts, which are thought to play an important role in SARS-CoV-2 infection. In contrast, overexpression of CLN7 led to an increase in viral load. This study provides evidence that CLN7 is involved in SARS-CoV-2 infection. This makes it a potential pharmacological target for drug development against COVID-19. Furthermore, it provides insights into the physiological function of CLN7 where still only little is known about.

Published
2022

22. Return of genetic research results in 21,532 individuals with autism

Author

Aarrestad, Alexandria, Abbeduto, Leonard, Aberbach, Gabriella, Aberle, Shelley, Adegbite, Adediwura, Adeniji, Debbie, Aguilar, Maria, Ahlers, Kaitlyn, Albright, Charles, Alessandri, Michael, Algaze, Zach, Alkazi, Jasem, Amador, Raquel, Amaral, David, Amon, Logan, Amundsen, Leonor, Andrus, Alicia, Anglo, Claudine, Annett, Robert, Arar, Adam, Arnold, Jonathan, Arriaga, Ivette, Arzate, Eduardo, Ashley, Raven, Aslamy, Leilemah, Baalman, Kelli, Baer, Melissa, Bahi, Ethan, Bailey, Joshua, Baldlock, Zachary, Banks, Grabrielle, Baraghoshi, Gabriele, Bardett, Nicole, Barrett, Mallory, Bartholomew, Yan, Bates, Heidi, Beard, Katie, Becerra, Juana, Beckwith, Malia, Beechan, Paige, Beeson, Landon, Beeson, Josh, Bell, Brandi, Belli, Monica, Bentley, Dawn, Berger, Natalie, Berman, Anna, Bernier, Raphael, Berry-Kravis, Elizabeth, Berwanger, Mary, Birdwell, Shelby, Blank, Elizabeth, Bond, Rebecca, Booker, Stephanie, Bordofsky, Aniela, Bower, Erin, Bowers, Lukas, Bradley, Catherine, Brayer, Heather, Brewster, Stephanie, Brown, Hallie, Brown, Alison, Brown, Melissa, Buck, Catherine, Buescher, Cate, Bullon, Kayleigh, Buraima, Joy, Butter, Eric, Caamano, Amalia, Cacciato, Nicole, CaI, Wenteng, Calderon, Norma, Callahan, Kristen, Camba, Alexies, Campo-Soria, Claudia, Caprara, Giuliana, Carbone, Paul, Carpenter, Laura, Carpenter, Sarah, Casseus, Myriam, Casten, Lucas, Catherine, Sullivan, Chappo, Ashley, Chavez, Kimberly, Cheathem-Johnson, Randi, Chen, Tia, Chintalapalli, Sharmista, Cho, Daniel, Choi, Y.B., Clark, Nia, Clark, Renee, Coffman, Marika, Coleman, Laura, Coleman, Kendra, Collins, Alister, Columbi, Costanza, Comitre, Joaquin, Constant, Stephanie, Contra, Arin, Conyers, Sarah, Cooper, Lindsey, Cooper, Cameron, Coppola, Leigh, Corlett, Allison, Corrales, Lady, Correa, Dahriana, Cottrell, Hannah, Coughlin, Michelle, Courchesne, Eric, Coury, Dan, Crocetti, Deana, Croson, Carrie, Crowell, Judith, Cubells, Joseph, Cunningham, Sean, Currin, Mary, Cutri, Michele, D'Ambrosi, Sophia, David, Giancarla, Davis, Ayana, Davis, Sabrina, Decius, Nickelle, Delaporte, Jennifer, DeMarco, Lindsey, Dennis, Brandy, Deronda, Alyssa, Dhawan, Esha, Dichter, Gabriel, Doan, Ryan, Dominick, Kelli, Ortega, Leonardo Dominquez, Doyle, Erin, Drayton, Andrea, DuBois, Megan, Dudley, Johnny, Duhon, Gabrielle, Duncan, Grabrielle, Duncan, Amie, Dunlevy, Megan, Dyer, Meaghan, Earl, Rachel, Edmonson, Catherine, Eldred, Sara, Elliott, Nelita, Emery, Brooke, Enright, Barbara, Erb, Sarah, Erickson, Craig, Esler, Amy, Estevez, Liza, Fanta, Anne, Fassler, Carrie, Fatemi, Ali, Fazal, Faris, Featherston, Marilyn, Ferguson, Jonathan, Fish, Angela, Fitzgerald, Kate, Flores, Kathleen, Fombonne, Eric, Foster, Margaret, Fowler, Tiffany, Fox, Emma, Fox, Emily, Francis, Sunday, Frayne, Margot, Froman, Sierra, Fuller, Laura, Galbraith, Virginia, Gallimore, Dakota, Gambrell, Ariana, Gazestani, Vahid, Geisheker, Madeleine R., Gerdts, Jennifer, Geschwind, Daniel, Ghaziuddin, Mohammad, Ghina, Haidar, Given, Erin, Goetz, Mykayla, Gong, Jared, Gonring, Kelsey, Gonzalez, Natalia, Gonzalez, Antonio, Goodwill, Ellie, Gordon, Rachel, Graham, Carter, Gray, Catherine, Grimes, Ellen, Griswold, Anthony, Gu, Pan, Guilfoyle, Janna, Gulsrud, Amanda, Gunderson, Jaclyn, Gunter, Chris, Gupta, Sanya, Gupta, Abha, Gutierrez, Anibal, Gwynette, Frampton, Haidar, Ghina, Hale, Melissa, Haley, Monica, Hall, Lauren K., Hamer, Kira, Hamilton, Piper, Hanna, Nathan, Hardan, Antonio, Harkins, Christina, Harrell, Eldric, Harris, Jill, Harris, Nina, Hayes, Caitlin, Hayse, Braden, Heckers, Teryn, Heerwagen, Kathryn, Hennelly, Daniela, Herbert, Lynette, Hermle, Luke, Hernandez, Briana, Herrera, Clara, Hess, Amy, Heyman, Michelle, Higgins, Lorrin, Phillips, Brittani Hilscher, Hirst, Kathy, Ho, Theodore, Hoffman, Emily, Hojlo, Margaret, Honaker, Makayla, Hong, Michael, Hooks, Gregory, Horner, Susannah, Horton, Danielle, Hounchell, Melanie, Howes, Dain, Huang-Storm, Lark, Hunter, Samantha, Hutter, Hanna, Hyde, Emily, Ibanez, Teresa, Ingram, Kelly, Istephanous, Dalia, Jacob, Suma, Jarratt, Andrea, Jelinek, Anna, Johnson, Mary, Jones, Mya, Jones, Garland, Jones, Mark, Jorgenson, Alissa, Judge, Jessyca, Kalb, Luther, Kalmus, Taylor, Kang, Sungeun, Kangas, Elizabeth, Kanne, Stephen, Kaplan, Hannah, Khan, Sara, Kim, Sophy, Kim, Annes, Kitaygordsky, Alex, Klaiman, Cheryl, Klever, Adam, Koene, Hope, Koomar, Tanner, Koza, Melinda, Kramer, Sydney, Krushena, Meghan, Kurtz-Nelson, Eva, Lamarche, Elena, Lampert, Erica, Lamy, Martine, Landa, Rebecca, Lebron-Cruz, Alexa, Lechniak, Holly, Lee, Soo, Leight, Bruce, Lerner, Matthew, Lesher, Laurie, Lewis, Courtney, Li, Hai, Li, Deana, Libove, Robin, Lillie, Natasha, Limon, Danica, Limpoco, Desi, Lin, Melody, Littlefield, Sandy, Lobisi, Brandon, Locarno, Laura, Long, Nancy, Long, Bailey, Long, Kennadie, Lopez, Marilyn, Lovering, Taylor, Lozano, Ivana, Lucio, Daniella, Luo, Addie, Luu, My-Linh, Lyon, Audrey, Ma, Julia, Madi, Natalie, Malloch, Lacy, Mankaryous, Reanna, Manning, Patricia, Mantey, Alvin, Marini, Richard, Marsden, Alexandra, Marwali, Clarissa, Marzano, Gabriela, Mason, Andrew, Mastel, Sarah, Mathai, Sheena, Matthews, Emily, Matusoff, Emma, Maxim, Clara, McCarthy, Caitlin, McClellen, Lynn, Mccoy, Nicole, McCullough, Kaylen, McDonald, Brooke, McGalliard, Julie, McIntyre, Anne-Marie, McKenna, Brooke, McKenzie, Alexander, McTaggart, Megan, Meinen, Hannah, Melnyk, Sophia, Miceli, Alexandra, Michaels, Sarah, Michaelson, Jacob, Milan, Estefania, Miller, Melissa, Milliken, Anna, Minton, Kyla, Mitchell, Terry, Gunn, Amanda Moffitt, Mohiuddin, Sarah, Money, Gina, Montezuma, Jessie, Mooney, Lindsey, Moore, Margo, Morales-Lara, Amy, Morgan, Kelly, Morotti, Hadley, Morrier, Michael, Munoz, Maria, Lavanderos, Ambar Munoz, Murali, Shwetha, Murillo, Karla, Murray, Kailey, Myhre, Erin, Neely, Jason, Neuhaus, Emily, Newman, Olivia, Nguyen, Richard, Nguyen, Victoria, Nichols, Evelyn, Nicholson, Amy, Niederhauser, Melanie, Norris, Megan, Norton, Shai, Nowell, Kerri, O’Brien, Kaela, O’Meara, Mitchell, O’Neil, Molly, O'Roak, Brian, Ocampo, Edith, Ochoa-Lubinoff, Cesar, Oft, Anna, Orobio, Jessica, Ortiz, Crissy, Ousley, Opal, Oyeyemi, Motunrayo, Pacheco, Lillian, Palacios, Valeria, Palmer, Samiza, Palmeri, Isabella, Pama, Katrina, Pandey, Juhi, Paolicelli, Anna Marie, Parker, Jaylaan, Patterson, Morgan, Pawlowski, Katherine, Pedapati, Ernest, Pepper, Michah, Perrin, Jeremy, Peura, Christine, Phillips, Diamond, Pierce, Karen, Piven, Joseph, Plate, Juhi, Polanco, Jose, Pott-Schmidt, Natalie, Pramparo, Tiziano, Pratt, Taleen, Prock, Lisa, White, Stormi Pulver, Qi, Hongjian, Qiu, Shanping, Queen, Eva, Questel, Marcia, Quinones, Ashley, Rambeck, Desiree, Randall, Shelley, Ranganathan, Vaikunt, Raymond, Laurie, Rayos, Madelyn, Real, Kelly, Rhea, Anna, Rice, Catherine, Richardson, Harper, Riffle, Stacy, Robertson, Tracy, Roby, Erin, Rocha, Ana, Roche, Casey, Rodriguez, Nicki, Rodriguez, Bianca, Roeder, Katherine, Rojas, Daniela, Rosewater, Jacob, Rosselott, Hilary, Runyan, Payton, Russo, Nicole, Rutter, Tara, Ruzzo, Elizabeth, Sahin, Mustafa, Salem, Fatima, Sanchez, Rebecca, Sanders, Muave, Sanderson, Tayler, Sandhu, Sophie, Sanford, Katelyn, Santangelo, Susan, Santulli, Madeline, Sarver, Dustin, Savage, Madeline, Scherr, Jessica, Schneider, Hoa, Schools, Hayley, Schoonover, Gregory, Schultz, Robert, Sebolt, Cheyanne, Shaffer, Rebecca, Shameen, Sana, Sherard, Curry, Shikov, Roman, Shillington, Amelle, Shir, Mojeeb, Shocklee, Amanda, Shrier, Clara, Shulman, Lisa, Siegel, Matt, Simon, Andrea, Simon, Laura, Singh, Arushi, Singh, Vini, Smalley, Devin, Smith, Kaitlin, Smith, Chris, Smith, Ashlyn, Soorya, Latha, Soscia, Julia, Soucy, Aubrie, Stchur, Laura, Steele, Morgan, Srishyla, Diksha, Stamps, Danielle, Sussman, Nicole, Swanson, Amy, Sweeney, Megan, Sziklay, Anthony, Tafolla, Maira, Taiba, Jabeen, Takahashi, Nicole, Terroso, Sydney, Strathearn, Camilla, Thomas, Taylor, Thompson, Samantha, Touchette, Ellyn, Townsend, Laina, Trog, Madison, Tsai, Katherine, Tseng, Angela, Tshering, Paullani, Tso, Ivy, Valicenti-Mcdermott, Maria, VanMetre, Bonnie, VanWade, Candace, Turecki, Samuel, Vargo, Kerrigan, Vattuone, Cristiana, Veenstra-Vanderweele, Jeremy, Vehorn, Alison, Benitez Velazquez, Alan Jesus, Verdi, Mary, Villalobos, Michele, Vrittamani, Lakshmi, Wainer, Allison, Wallace, Jermel, Walston, Corrie, Wang, Jiayaho, Ward, Audrey, Warren, Zachary, Washington, Katherine, Westerkamp, Grace, White, Sabrina, Wink, Logan, Winoto, Fiona, Winters, Sarah, Wodka, Ericka, Xavier, Samantha, Xu, Sidi, Yang, Yi, Yang, WhaJames, Yang, Amy, Yinger, Meredith, Yu, Timothy, Zaro, Christopher, Zha, Cindy, Zhang, Haicang, Zhao, Haoquan, Zick, Allyson, Salmon, Lauren Ziegelmayer, Wright, Jessica R., Astrovskaya, Irina, Barns, Sarah D., Goler, Alexandra, Zhou, Xueya, Shu, Chang, Snyder, LeeAnne Green, Han, Bing, Shen, Yufeng, Volfovsky, Natalia, Hall, Jacob B., Feliciano, Pamela, and Chung, Wendy K.

Published
2024
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23. RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront

Author

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, and Petit, Florence

Published
2024
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25. Age-dependent heterogeneity in the antigenic effects of mutations to influenza hemagglutinin

Author

Welsh, Frances C., Eguia, Rachel T., Lee, Juhye M., Haddox, Hugh K., Galloway, Jared, Van Vinh Chau, Nguyen, Loes, Andrea N., Huddleston, John, Yu, Timothy C., Quynh Le, Mai, Nhat, Nguyen T.D., Thi Le Thanh, Nguyen, Greninger, Alexander L., Chu, Helen Y., Englund, Janet A., Bedford, Trevor, Matsen, Frederick A., IV, Boni, Maciej F., and Bloom, Jesse D.

Published
2024
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28. Domain Adaptation via CycleGAN for Retina Segmentation in Optical Coherence Tomography

Author

Chen, Ricky, Yu, Timothy T., Xu, Gavin, Ma, Da, Sarunic, Marinko V., and Beg, Mirza Faisal

Subjects
Electrical Engineering and Systems Science - Image and Video Processing, Computer Science - Computer Vision and Pattern Recognition, Computer Science - Machine Learning, I.4.0
Abstract

With the FDA approval of Artificial Intelligence (AI) for point-of-care clinical diagnoses, model generalizability is of the utmost importance as clinical decision-making must be domain-agnostic. A method of tackling the problem is to increase the dataset to include images from a multitude of domains; while this technique is ideal, the security requirements of medical data is a major limitation. Additionally, researchers with developed tools benefit from the addition of open-sourced data, but are limited by the difference in domains. Herewith, we investigated the implementation of a Cycle-Consistent Generative Adversarial Networks (CycleGAN) for the domain adaptation of Optical Coherence Tomography (OCT) volumes. This study was done in collaboration with the Biomedical Optics Research Group and Functional & Anatomical Imaging & Shape Analysis Lab at Simon Fraser University. In this study, we investigated a learning-based approach of adapting the domain of a publicly available dataset, UK Biobank dataset (UKB). To evaluate the performance of domain adaptation, we utilized pre-existing retinal layer segmentation tools developed on a different set of RETOUCH OCT data. This study provides insight on state-of-the-art tools for domain adaptation compared to traditional processing techniques as well as a pipeline for adapting publicly available retinal data to the domains previously used by our collaborators., Comment: 10 pages, 6 figures, 1 table

Published
2021

29. A framework for individualized splice-switching oligonucleotide therapy

Author

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., and Yu, Timothy W.

Published
2023
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30. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Author

Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F, Wei, Angela, Elliott, Kathryn, Goodloe, Dana H, Dean, S Joy, Gooch, Catherine, Murray, Brianna K, Swartz, Erin, Vergano, Samantha A Schrier, Towne, Meghan C, Nugent, Kimberly, Roeder, Elizabeth R, Kresge, Christina, Pletcher, Beth A, Grand, Katheryn, Graham, John M, Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J, Cohen, Julie S, Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W, Madden, Jill A, Gubbels, Cynthia S, Yu, Timothy W, Agrawal, Pankaj B, Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A, Tauber, Kate A, Azova, Svetlana, Smith, Jessica R, O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N, and Arboleda, Valerie A

Subjects
Biological Sciences, Genetics, Brain Disorders, Congenital Structural Anomalies, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Alleles, Blepharophimosis, Cohort Studies, Congenital Hypothyroidism, Craniofacial Abnormalities, Facies, Genetic Association Studies, Genetic Counseling, Genetic Loci, Genetic Predisposition to Disease, Genotype, Heart Defects, Congenital, Histone Acetyltransferases, Humans, Intellectual Disability, Joint Instability, Kidney, Male, Mutation, Patella, Phenotype, Psychomotor Disorders, Scrotum, Urogenital Abnormalities, CRISPR, Genitopatellar syndrome, KAT6B-related disorders, phenotypic spectrum, Say-Barber-Biesecker-Young-Simpson syndrome, variable expressivity, rare genetic diagnosis, variable expressivity, rare genetic diagnosis, Medicinal and Biomolecular Chemistry, Clinical Sciences, Medicinal and biomolecular chemistry
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 Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel KAT6B variants. These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. Given the range of features previously described for KAT6B-related syndromes, we have identified additional phenotypes including concern for keratoconus, sensitivity to light or noise, recurring infections, and fractures in greater numbers than previously reported. We surveyed clinicians to qualitatively assess the ways families engage with genetic counselors upon diagnosis. We found that 56% (10/18) of individuals receive diagnoses before the age of 2 years (median age = 1.96 years), making it challenging to address future complications with limited accessible information and vast phenotypic severity. We used CRISPR to introduce truncating variants into the KAT6B gene in model cell lines and performed chromatin accessibility and transcriptome sequencing to identify key dysregulated pathways. This study expands the clinical spectrum and addresses the challenges to management and genetic counseling for patients with KAT6B-related disorders.

Published
2021

32. Multiplexed characterization of rationally designed promoter architectures deconstructs combinatorial logic for IPTG-inducible systems.

Author

Yu, Timothy C, Liu, Winnie L, Brinck, Marcia S, Davis, Jessica E, Shek, Jeremy, Bower, Grace, Einav, Tal, Insigne, Kimberly D, Phillips, Rob, Kosuri, Sriram, and Urtecho, Guillaume

Subjects
Escherichia coli, DNA-Directed RNA Polymerases, Isopropyl Thiogalactoside, Transcription Factors, Reproducibility of Results, Binding Sites, Protein Binding, Mutation, Genes, Reporter, Fluorescence, Thermodynamics, Logic, Operator Regions, Genetic, Promoter Regions, Genetic, Biophysical Phenomena
Abstract

A crucial step towards engineering biological systems is the ability to precisely tune the genetic response to environmental stimuli. In the case of Escherichia coli inducible promoters, our incomplete understanding of the relationship between sequence composition and gene expression hinders our ability to predictably control transcriptional responses. Here, we profile the expression dynamics of 8269 rationally designed, IPTG-inducible promoters that collectively explore the individual and combinatorial effects of RNA polymerase and LacI repressor binding site strengths. We then fit a statistical mechanics model to measured expression that accurately models gene expression and reveals properties of theoretically optimal inducible promoters. Furthermore, we characterize three alternative promoter architectures and show that repositioning binding sites within promoters influences the types of combinatorial effects observed between promoter elements. In total, this approach enables us to deconstruct relationships between inducible promoter elements and discover practical insights for engineering inducible promoters with desirable characteristics.

Published
2021

37. Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing

Author

Mackay, Zoë P, Dukhovny, Dmitry, Phillips, Kathryn A, Beggs, Alan H, Green, Robert C, Parad, Richard B, Christensen, Kurt D, Team, BabySeq Project, Agrawal, Pankaj B, Ceyhan-Birsoy, Ozge, Fayer, Shawn, Frankel, Leslie A, Genetti, Casie A, Gutierrez, Amanda M, Harden, Maegan, Holm, Ingrid A, Krier, Joel B, Lebo, Matthew S, Machini, Kalotina, McGuire, Amy L, Naik, Medha, Nguyen, Tiffany T, Pereira, Stacey, Ramanathan, Vivek, Rehm, Heidi L, Roberts, Amy, Robinson, Jill O, Roumiantsev, Sergei, Schwartz, Talia S, Truong, Tina K, VanNoy, Grace E, Waisbren, Susan E, and Yu, Timothy W

Subjects
Health Services and Systems, Health Sciences, Clinical Research, Human Genome, Health Services, Genetics, Patient Safety, Health and social care services research, 8.1 Organisation and delivery of services, Good Health and Well Being, Female, Genetic Testing, Genomics, Humans, Infant, Longitudinal Studies, Male, Parents, Patient Acceptance of Health Care, Risk Factors, Surveys and Questionnaires, Telephone, genetic testing, genomics, healthcare utilization, health services, humans, infant, newborn, medical records, risk factors, surveys and questionnaires, whole exome sequencing, BabySeq Project Team, Public Health and Health Services, Applied Economics, Health Policy & Services, Applied economics, Health services and systems, Policy and administration
Abstract

ObjectivesThe challenges of understanding how interventions influence follow-up medical care are magnified during genomic testing because few patients have received it to date and because the scope of information it provides is complex and often unexpected. We tested a novel strategy for quantifying downstream healthcare utilization after genomic testing to more comprehensively and efficiently identify related services. We also evaluated the effectiveness of different methods for collecting these data.MethodsWe developed a risk-based approach for a trial of newborn genomic sequencing in which we defined primary conditions based on existing diagnoses and family histories of disease and defined secondary conditions based on unexpected findings. We then created patient-specific lists of services associated with managing primary and secondary conditions. Services were quantified based on medical record reviews, surveys, and telephone check-ins with parents.ResultsBy focusing on services that genomic testing would most likely influence in the short-term, we reduced the number of services in our analyses by more than 90% compared with analyses of all observed services. We also identified the same services that were ordered in response to unexpected findings as were identified during expert review and by confirming whether recommendations were completed. Data also showed that quantifying healthcare utilization with surveys and telephone check-ins alone would have missed the majority of attributable services.ConclusionsOur risk-based strategy provides an improved approach for assessing the short-term impact of genomic testing and other interventions on healthcare utilization while conforming as much as possible to existing best-practice recommendations.

Published
2020

38. “It’s hard to wait”: Provider Perspectives on Current Genomic Care in Safety-Net NICUs

Author

D’Gama, Alissa M., primary, Wojcik, Monica H., additional, Hills, Sonia, additional, Douglas, Jessica, additional, Allcroft, Tyler, additional, Bhandari, Vineet, additional, Brownstein, Catherine, additional, Cantu, Luis, additional, Feldman, Henry A., additional, Genetti, Casie A., additional, Honrubia, Dynio, additional, Kritzer, Amy, additional, Li, Qifei, additional, Rhein, Lawrence, additional, Rothstein, Robert, additional, Salinas, Odalys, additional, Santana, Andres, additional, Schmitz-Abe, Klaus, additional, Serna, Anyssa, additional, Shapiro, Faye, additional, Shenoy, Anjana Bhami, additional, Simoncini, Lindsey, additional, Sinha, Bharati, additional, Verran, Aubrie Soucy, additional, Sousa, Anéya, additional, Newsam, Marione Tamase, additional, Young, Vanessa, additional, Yu, Timothy W., additional, Agrawal, Pankaj B., additional, and Parker, Margaret G., additional

Published
2024
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39. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Author

Kanca, Oguz, Andrews, Jonathan C, Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R, Slavotinek, Anne M, Cohen, Julie S, Gubbels, Cynthia S, Aldinger, Kimberly A, Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W, Agrawal, Pankaj B, Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C Christopher, Undiagnosed Diseases Network, Chung, Wendy K, Markello, Thomas C, Dobyns, William B, Adams, David R, Gahl, William A, Wangler, Michael F, Yamamoto, Shinya, Bellen, Hugo J, and Malicdan, May Christine V

Subjects
Undiagnosed Diseases Network, Cerebellum, Animals, Humans, Drosophila melanogaster, Epilepsy, Nervous System Malformations, Coloboma, Microfilament Proteins, Developmental Disabilities, Amino Acid Sequence, Sequence Homology, Phenotype, Mutation, Adult, Child, Infant, Infant, Newborn, Female, Male, Young Adult, Body Dysmorphic Disorders, Intellectual Disability, WD40 Repeats, CG12333, Drosophila, WD40 repeats, WDR37 domains, bang sensitivity, wdr37, Genetics, Pediatric, Rare Diseases, Congenital Structural Anomalies, Neurodegenerative, Neurosciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

WD40 repeat-containing proteins form a large family of proteins present in all eukaryotes. Here, we identified five pediatric probands with de novo variants in WDR37, which encodes a member of the WD40 repeat protein family. Two probands shared one variant and the others have variants in nearby amino acids outside the WD40 repeats. The probands exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmental delay and intellectual disability, and cerebellar hypoplasia. The WDR37 protein is highly conserved in vertebrate and invertebrate model organisms and is currently not associated with a human disease. We generated a null allele of the single Drosophila ortholog to gain functional insights and replaced the coding region of the fly gene CG12333/wdr37 with GAL4. These flies are homozygous viable but display severe bang sensitivity, a phenotype associated with seizures in flies. Additionally, the mutant flies fall when climbing the walls of the vials, suggesting a defect in grip strength, and repeat the cycle of climbing and falling. Similar to wall clinging defect, mutant males often lose grip of the female abdomen during copulation. These phenotypes are rescued by using the GAL4 in the CG12333/wdr37 locus to drive the UAS-human reference WDR37 cDNA. The two variants found in three human subjects failed to rescue these phenotypes, suggesting that these alleles severely affect the function of this protein. Taken together, our data suggest that variants in WDR37 underlie a novel syndromic neurological disorder.

Published
2019

41. New kinase‐deficient PAK2 variants associated with Knobloch syndrome type 2.

Author

Schnur, Rhonda E., Dvořáček, Lukáš, Kalsner, Louisa, Shapiro, Faye L., Grebeňová, Dana, Yanni, Diana, Wasserman, Barry N., Agrawal, Pankaj, Parker, Margaret, Yu, Timothy, Douglas, Jessica, Young, Vanessa, D'Gama, Alissa, Hills, Sonia, Wojcik, Monika, Brownstein, Catherine, Genetti, Casie, Schmith‐Abe, Klaus, Dyer, Lisa M., and Antonarakis, Stylianos E.

Subjects
RETROLENTAL fibroplasia, MISSENSE mutation, PROTEIN kinases, RETINAL detachment, SYMPTOMS, CELL adhesion
Abstract

The p21‐activated kinase (PAK) family of proteins regulates various processes requiring dynamic cytoskeleton organization such as cell adhesion, migration, proliferation, and apoptosis. Among the six members of the protein family, PAK2 is specifically involved in apoptosis, angiogenesis, or the development of endothelial cells. We report a novel de novo heterozygous missense PAK2 variant, p.(Thr406Met), found in a newborn with clinical manifestations of Knobloch syndrome. In vitro experiments indicated that this and another reported variant, p.(Asp425Asn), result in substantially impaired protein kinase activity. Similar findings were described previously for the PAK2 p.(Glu435Lys) variant found in two siblings with proposed Knobloch syndrome type 2 (KNO2). These new variants support the association of PAK2 kinase deficiency with a second, autosomal dominant form of Knobloch syndrome: KNO2. [ABSTRACT FROM AUTHOR]

Published
2024
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42. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

Author

Marsh, Ashley PL, Edwards, Timothy J, Galea, Charles, Cooper, Helen M, Engle, Elizabeth C, Jamuar, Saumya S, Méneret, Aurélie, Moutard, Marie‐Laure, Nava, Caroline, Rastetter, Agnès, Robinson, Gail, Rouleau, Guy, Roze, Emmanuel, Spencer‐Smith, Megan, Trouillard, Oriane, de Villemeur, Thierry Billette, Walsh, Christopher A, Yu, Timothy W, Consortium, IRC5, Heron, Delphine, Sherr, Elliott H, Richards, Linda J, Depienne, Christel, Leventer, Richard J, and Lockhart, Paul J

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Digestive Diseases, Brain Disorders, Neurosciences, Pediatric, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Abnormalities, Multiple, Agenesis of Corpus Callosum, Amino Acid Sequence, Binding Sites, Conserved Sequence, Databases, Genetic, Genes, DCC, Genetic Association Studies, Humans, Magnetic Resonance Imaging, Models, Molecular, Mutation, Netrin-1, Phenotype, Protein Binding, Protein Conformation, Protein Domains, Syndrome, ACC, agenesis of the corpus callosum, axon guidance, DCC, developmental split brain syndrome, horizontal gaze palsy with progressive scoliosis, mirror movements, mutation, NTN1, IRC5 Consortium, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

The deleted in colorectal cancer (DCC) gene encodes the netrin-1 (NTN1) receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central nervous system (CNS) and cause a spectrum of neurological disorders. Monoallelic, missense, and predicted loss-of-function DCC mutations cause congenital mirror movements, isolated agenesis of the corpus callosum (ACC), or both. Biallelic, predicted loss-of-function DCC mutations cause developmental split brain syndrome (DSBS). Although the underlying molecular mechanisms leading to disease remain poorly understood, they are thought to stem from reduced or perturbed NTN1 signaling. Here, we review the 26 reported DCC mutations associated with abnormal CNS development in humans, including 14 missense and 12 predicted loss-of-function mutations, and discuss their associated clinical characteristics and diagnostic features. We provide an update on the observed genotype-phenotype relationships of congenital mirror movements, isolated ACC and DSBS, and correlate this to our current understanding of the biological function of DCC in the development of the CNS. All mutations and their associated phenotypes were deposited into a locus-specific LOVD (https://databases.lovd.nl/shared/genes/DCC).

Published
2018

43. Delayed fractional dosing with RTS,S/AS01 improves humoral immunity to malaria via a balance of polyfunctional NANP6- and Pf16-specific antibodies

Author

Das, Jishnu, Fallon, Jonathan K., Yu, Timothy C., Michell, Ashlin, Suscovich, Todd J., Linde, Caitlyn, Natarajan, Harini, Weiner, Joshua, Coccia, Margherita, Gregory, Scott, Ackerman, Margaret E., Bergmann-Leitner, Elke, Fontana, Laura, Dutta, Sheetij, Lauffenburger, Douglas A., Jongert, Erik, Wille-Reece, Ulrike, and Alter, Galit

Published
2021
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44. Biallelic mutations in human DCC cause developmental split-brain syndrome

Author

Jamuar, Saumya S, Schmitz-Abe, Klaus, D'Gama, Alissa M, Drottar, Marie, Chan, Wai-Man, Peeva, Maya, Servattalab, Sarah, Lam, Anh-Thu N, Delgado, Mauricio R, Clegg, Nancy J, Zayed, Zayed Al, Dogar, Mohammad Asif, Alorainy, Ibrahim A, Jamea, Abdullah Abu, Abu-Amero, Khaled, Griebel, May, Ward, Wendy, Lein, Ed S, Markianos, Kyriacos, Barkovich, A James, Robson, Caroline D, Grant, P Ellen, Bosley, Thomas M, Engle, Elizabeth C, Walsh, Christopher A, and Yu, Timothy W

Subjects
Agricultural, Veterinary and Food Sciences, Biological Sciences, Bioinformatics and Computational Biology, Genetics, Agricultural Biotechnology, Perinatal Period - Conditions Originating in Perinatal Period, Neurosciences, Pediatric, Brain Disorders, Clinical Research, Intellectual and Developmental Disabilities (IDD), Neurological, Brain, Central Nervous System, Colorectal Neoplasms, Female, Gene Expression Regulation, Developmental, Humans, Intellectual Disability, Loss of Heterozygosity, Male, Mutation, Neurons, Phenotype, Polymorphism, Single Nucleotide, Receptors, Cell Surface, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted, thus causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability. Affected individuals were found to possess biallelic loss-of-function mutations in the gene encoding the axon-guidance receptor 'deleted in colorectal carcinoma' (DCC), which has been implicated in congenital mirror movements when it is mutated in the heterozygous state but whose biallelic loss-of-function human phenotype has not been reported. Structural MRI and diffusion tractography demonstrated broad disorganization of white-matter tracts throughout the human central nervous system (CNS), including loss of all commissural tracts at multiple levels of the neuraxis. Combined with data from animal models, these findings show that DCC is a master regulator of midline crossing and development of white-matter projections throughout the human CNS.

Published
2017

45. Newborn Sequencing in Genomic Medicine and Public Health

Author

Berg, Jonathan S, Agrawal, Pankaj B, Bailey, Donald B, Beggs, Alan H, Brenner, Steven E, Brower, Amy M, Cakici, Julie A, Ceyhan-Birsoy, Ozge, Chan, Kee, Chen, Flavia, Currier, Robert J, Dukhovny, Dmitry, Green, Robert C, Harris-Wai, Julie, Holm, Ingrid A, Iglesias, Brenda, Joseph, Galen, Kingsmore, Stephen F, Koenig, Barbara A, Kwok, Pui-Yan, Lantos, John, Leeder, Steven J, Lewis, Megan A, McGuire, Amy L, Milko, Laura V, Mooney, Sean D, Parad, Richard B, Pereira, Stacey, Petrikin, Joshua, Powell, Bradford C, Powell, Cynthia M, Puck, Jennifer M, Rehm, Heidi L, Risch, Neil, Roche, Myra, Shieh, Joseph T, Veeraraghavan, Narayanan, Watson, Michael S, Willig, Laurel, Yu, Timothy W, Urv, Tiina, and Wise, Anastasia L

Subjects
Health Services and Systems, Health Sciences, Pediatric, Biotechnology, Genetics, Genetic Testing, Pediatric Research Initiative, Human Genome, Prevention, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Generic health relevance, Good Health and Well Being, Exome, Genetic Carrier Screening, Genetic Research, Genome-Wide Association Study, Genomic Structural Variation, Humans, Infant, Newborn, Intensive Care Units, Neonatal, Neonatal Screening, Predictive Value of Tests, Prospective Studies, Public Health, Sequence Analysis, DNA, United States, Medical and Health Sciences, Psychology and Cognitive Sciences, Pediatrics, Biomedical and clinical sciences, Health sciences, Psychology
Abstract

The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.

Published
2017

46. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Author

Harris, Holly K., Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S., Soucy, Aubrie, Genetti, Casie A., Suslovitch, Victoria, Rodan, Lance H., Tiller, George E., Lesca, Gaetan, Gripp, Karen W., Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D., Turnpenny, Peter D., Simon, Marleen E. H., Volker-Touw, Catharina M. L., Gassen, Koen L. I. van, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, Vries, Bert B. A. de, Immken, LaDonna L., Buchanan, Catherine, Willing, Marcia, Toler, Tomi L., Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Jr., Julian L., Fannemel, Madeleine, Posey, Jennifer E., Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R., Larsen, Martin J., Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K., Walsh, Laurence E., Aldinger, Kimberly A., Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P., Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B., Cohen, Lilian L., Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B., Beggs, Alan H., and Yu, Timothy W.

Published
2021
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47. Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing

Author

Agrawal, Pankaj B., Ceyhan-Birsoy, Ozge, Fayer, Shawn, Frankel, Leslie A., Genetti, Casie A., Gutierrez, Amanda M., Harden, Maegan, Holm, Ingrid A., Krier, Joel B., Lebo, Matthew S., Machini, Kalotina, McGuire, Amy L., Naik, Medha, Nguyen, Tiffany T., Pereira, Stacey, Ramanathan, Vivek, Rehm, Heidi L., Roberts, Amy, Robinson, Jill O., Roumiantsev, Sergei, Schwartz, Talia S., Truong, Tina K., VanNoy, Grace E., Waisbren, Susan E., Yu, Timothy W., Mackay, Zoë P., Dukhovny, Dmitry, Phillips, Kathryn A., Beggs, Alan H., Green, Robert C., Parad, Richard B., and Christensen, Kurt D.

Published
2020
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48. Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study

Author

D'Gama, Alissa M, primary, Hills, Sonia, additional, Douglas, Jessica, additional, Young, Vanessa, additional, Genetti, Casie A, additional, Wojcik, Monica H, additional, Feldman, Henry A, additional, Yu, Timothy W, additional, G Parker, Margaret, additional, and Agrawal, Pankaj B, additional

Published
2024
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