Evaluation of targeted next-generation sequencing–based preimplantation genetic diagnosis of monogenic disease von Treff, Nathan R., Ph.D, Fedick, Anastasia, B.S, Tao, Xin, M.S, Devkota, Batsal, Ph.D, Taylor, Deanne, Ph.D, Scott, Richard T., M.D

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Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach von Wu, Chao, Devkota, Batsal, Evans, Perry, Zhao, Xiaonan, Baker, Samuel W, Niazi, Rojeen, Cao, Kajia, Gonzalez, Michael A, Jayaraman, Pushkala, Conlin, Laura K, Krock, Bryan L, Deardorff, Matthew A, Spinner, Nancy B, Krantz, Ian D, Santani, Avni B, Tayoun, Ahmad N Abou, Sarmady, Mahdi

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Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults von Ahmadmehrabi, Shadi, Li, Binglan, Park, Joseph, Devkota, Batsal, Vujkovic, Marijana, Ko, Yi-An, Van Wagoner, David, Tang, W.H. Wilson, Krantz, Ian, Ritchie, Marylyn, Brant, Jason, Ruckenstein, Michael J., Epstein, Douglas J., Rader, Daniel J.

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Uniparental disomy in the human blastocyst is exceedingly rare von Gueye, Ndeye-Aicha, M.D, Devkota, Batsal, Ph.D, Taylor, Deanne, Ph.D, Pfundt, Rolph, Ph.D, Scott, Richard T., M.D, Treff, Nathan R., Ph.D

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P565: Optimized whole genome screening: The impact of variant calling accuracy improvements on curation burden von Sund, Kristen, Strom, Samuel, Fujita, Pauline, Devkota, Batsal, Shah, Jennifer, Berkowitz, Nathan, Lovato, LeAnne, Margulies, Elliott, Bekritsky, Mitch

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High-throughput carrier screening using TaqMan allelic discrimination von Fedick, Anastasia, Su, Jing, Jalas, Chaim, Northrop, Lesley, Devkota, Batsal, Ekstein, Josef, Treff, Nathan R

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Motion of transfer RNA from the A/T state into the A-site using docking and simulations von Caulfield, Thomas, Devkota, Batsal

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Examinations of tRNA Range of Motion Using Simulations of Cryo-EM Microscopy and X-Ray Data von Caulfield, Thomas R., Rollins, Geoffrey C., Devkota, Batsal

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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy von Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Shen, Joseph, Štěrbová, Katalin, Hammer, Trine Bjørg, Møller, Rikke S., Shinde, Deepali N., Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine L., Haucke, Volker, Weber, Yvonne G., Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Komarek, Vladimir, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Muhle, Hiltrud, Pal, Deb K., Palotie, Aarno, Rosenow, Felix, Schubert-Bast, Susanne, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Zara, Federico, Avillach, Paul, Bartels, Anna, Biswas, Sawona, Bourgeois, Florence, Devkota, Batsal, Glauser, Tracy, Hallinan, Barbara, Heath, Allison, Hirschhorn, Joel, Kilbourn, Judson, Kong, Sek Won, Krantz, Ian, Lee, In-Hee, Mandl, Kenneth D., Marsh, Eric, Sund, Kristen, Taylor, Deanne, White, Peter

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Comprehensive Molecular Structure of the Eukaryotic Ribosome von Taylor, Derek J., Devkota, Batsal, Huang, Andrew D., Topf, Maya, Narayanan, Eswar, Sali, Andrej, Harvey, Stephen C., Frank, Joachim

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Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield von Yamamoto, Nobuko, Balciuniene, Jorune, Hartman, Tiffiney, Diaz-Miranda, Maria Alejandra, Bedoukian, Emma, Devkota, Batsal, Lawrence, Audrey, Golenberg, Netta, Patel, Maha, Tare, Archana, Chen, Robert, Schindler, Emma, Choi, Jiwon, Kaur, Maninder, Charles, Sarah, Chen, Jiani, Fanning, Elizabeth A., Dechene, Elizabeth, Cao, Kajia, Jill, Murrell R., Rajagopalan, Ramakrishnan, Bayram, Yavuz, Dulik, Matthew C., Germiller, John, Conlin, Laura K., Krantz, Ian D., Luo, Minjie

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EMDataBank.org: unified data resource for CryoEM von Lawson, Catherine L, Baker, Matthew L, Best, Christoph, Bi, Chunxiao, Dougherty, Matthew, Feng, Powei, van Ginkel, Glen, Devkota, Batsal, Lagerstedt, Ingvar, Ludtke, Steven J, Newman, Richard H, Oldfield, Tom J, Rees, Ian, Sahni, Gaurav, Sala, Raul, Velankar, Sameer, Warren, Joe, Westbrook, John D, Henrick, Kim, Kleywegt, Gerard J, Berman, Helen M, Chiu, Wah

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Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases von Katz, Olivia L., Wild, K. Taylor, McEldrew, Deborah, Kaur, Maninder, Raible, Sarah, Skraban, Cara M., Zackai, Elaine H., Medne, Livija, Izumi, Kosuke, Fortunato, Sierra, Weatherly, Jamila, Hartman, Tiffiney, Deppen, Paul, Blair, Justin, Devkota, Batsal, Schindler, Emma, Hedrick, Holly L., Peranteau, William, Krantz, Ian D.

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss von Sheppard, Sarah, Biswas, Sawona, Li, Mindy H., Jayaraman, Vijayakumar, Slack, Ian, Romasko, Edward J., Sasson, Ariella, Brunton, Joshua, Rajagopalan, Ramakrishnan, Sarmady, Mahdi, Abrudan, Jenica L., Jairam, Sowmya, DeChene, Elizabeth T., Ying, Xiahoan, Choi, Jiwon, Wilkens, Alisha, Raible, Sarah E., Scarano, Maria I., Santani, Avni, Pennington, Jeffrey W., Luo, Minjie, Conlin, Laura K., Devkota, Batsal, Dulik, Matthew C., Spinner, Nancy B., Krantz, Ian D.

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A Centralized Approach for Practicing Genomic Medicine von Biswas, Sawona, Medne, Livija, Devkota, Batsal, Bedoukian, Emma, Berrodin, Donna, Izumi, Kosuke, Deardorff, Matthew A., Tarpinian, Jennifer, Leonard, Jacqueline, Pyle, Loiusa, Gray, Christopher, Montgomery, Jasmine, Williams, Tyrah, Fortunato, Sierra, Weatherly, Jamila, McEldrew, Deborah, Kaur, Manindar, Raible, Sarah E., Wilkens, Alisha, Spinner, Nancy B., Skraban, Cara, Krantz, Ian D.

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Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders von Romasko, Edward J., Devkota, Batsal, Biswas, Sawona, Jayaraman, Vijayakumar, Rajagopalan, Ramakrishnan, Dulik, Matthew C., Thom, Christopher S., Choi, Jiwon, Jairam, Sowmya, Scarano, Maria I., Krantz, Ian D., Spinner, Nancy B., Conlin, Laura K., Lambert, Michele P.

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Abstract 2465: Genomic harmonization of the Data Resource Center for Gabriella Miller Kids First Pediatric Research Program von Zhu, Yuankun, Brown, Miguel, Devkota, Batsal, Farrow, Bailey, Gavrilovic, Bogdan, Heath, Allison, Hernandez, Kyle, Kelman, Avi, Killada, Parimala, Kim, Meen Chul, Kolbman, Daniel, Koptyra, Mateusz, Kovacevic, Milan, Leerkes, Maarten, Lubneuski, Alex, Mattioni, Michele, Raman, Pichai, Resnick, Adam, Skundric, Nikola, Taylor, Deanne, Zhang, Junjun, Zhang, Bo, Storm, Phillip B.

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The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system (vol 74, pg 879, 2020) von Mandl, Kenneth D., Glauser, Tracy, Krantz, Ian D., Avillach, Paul, Bartels, Anna, Beggs, Alan H., Biswas, Sawona, Bourgeois, Florence T., Corsmo, Jeremy, Dauber, Andrew, Devkota, Batsal, Fleisher, Gary R., Heath, Allison P., Helbig, Ingo, Hirschhorn, Joel N., Kilbourn, Judson, Kong, Sek Won, Kornetsky, Susan, Majzoub, Joseph A., Marsolo, Keith, Martin, Lisa J., Nix, Jeremy, Schwarzhoff, Amy, Stedman, Jason, Strauss, Arnold, Sund, Kristen L., Taylor, Deanne M., White, Peter S., Marsh, Eric, Grimberg, Adda, Hawkes, Colin

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Utility of Whole Exome Sequencing in Diagnosis of Pediatric Platelet Disorders: A Subanalysis of the Pediseq Study von Romasko, Edward J, Biswas, Sawona, Devkota, Batsal, Vijayakumar, Jayaraman, Jairam, Sowmyra, Thom, Christopher S, Dulik, Matthew C, Conlin, Laura K, Spinner, Nancy B., Krantz, Ian D, Lambert, Michele P.

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Viral assembly: a molecular modeling perspective von Harvey, Stephen C, Petrov, Anton S, Devkota, Batsal, Boz, Mustafa Burak

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