Resultados de procura - Lebo, Matthew S

Do COVID-19 Policies Affect Mobility Behaviour? Evidence from 75 Canadian and American Cities por Armstrong, David A., Lebo, Matthew J., Lucas, Jack

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Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations por Lerner-Ellis, Jordan, Wang, Marina, White, Shana, Lebo, Matthew S

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Somatic, germline and sex hierarchy regulated gene expression during Drosophila metamorphosis por Lebo, Matthew S, Sanders, Laura E, Sun, Fengzhu, Arbeitman, Michelle N

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Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1 por Witkowski, Leora, Dillon, Mitchell W., Murphy, Elissa, S Lebo, Matthew, Mason‐Suares, Heather

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Ecdysone receptor acts in fruitless-expressing neurons to mediate Drosophila courtship behaviors por Dalton, Justin E, Lebo, Matthew S, Sanders, Laura E, Sun, Fengzhu, Arbeitman, Michelle N

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Information Technology Support for Clinical Genetic Testing within an Academic Medical Center por Aronson, Samuel, Mahanta, Lisa, Ros, Lei Lei, Clark, Eugene, Babb, Lawrence, Oates, Michael, Rehm, Heidi, Lebo, Matthew

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Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine por Tsai, Ellen A., Shakbatyan, Rimma, Evans, Jason, Rossetti, Peter, Graham, Chet, Sharma, Himanshu, Lin, Chiao-Feng, Lebo, Matthew S.

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Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets por Evans, Perry, Wu, Chao, Lindy, Amanda, McKnight, Dianalee A., Lebo, Matthew, Sarmady, Mahdi, Abou Tayoun, Ahmad N.

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VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data por Pugh, Trevor J., Amr, Sami S., Bowser, Mark J., Gowrisankar, Sivakumar, Hynes, Elizabeth, Mahanta, Lisa M., Rehm, Heidi L., Funke, Birgit, Lebo, Matthew S.

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Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome por Mason-Suares, Heather, Toledo, Diana, Gekas, Jean, Lafferty, Katherine A, Meeks, Naomi, Pacheco, M Cristina, Sharpe, David, Mullen, Thomas E, Lebo, Matthew S

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Dynamic, mating-induced gene expression changes in female head and brain tissues of Drosophila melanogaster por Dalton, Justin E, Kacheria, Tanvi S, Knott, Simon RV, Lebo, Matthew S, Nishitani, Allison, Sanders, Laura E, Stirling, Emma J, Winbush, Ari, Arbeitman, Michelle N

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Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality por Patel, Aniruddh P., Dron, Jacqueline S., Wang, Minxian, Pirruccello, James P., Ng, Kenney, Natarajan, Pradeep, Lebo, Matthew, Ellinor, Patrick T., Aragam, Krishna G., Khera, Amit V.

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A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing por Lincoln, Stephen E., Truty, Rebecca, Lin, Chiao-Feng, Zook, Justin M., Paul, Joshua, Ramey, Vincent H., Salit, Marc, Rehm, Heidi L., Nussbaum, Robert L., Lebo, Matthew S.

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Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project por Machini, Kalotina, Ceyhan-Birsoy, Ozge, Azzariti, Danielle R., Sharma, Himanshu, Rossetti, Peter, Mahanta, Lisa, Hutchinson, Laura, McLaughlin, Heather, Green, Robert C., Lebo, Matthew, Rehm, Heidi L.

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Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy por Jordan, Daniel M., Kiezun, Adam, Baxter, Samantha M., Agarwala, Vineeta, Green, Robert C., Murray, Michael F., Pugh, Trevor, Lebo, Matthew S., Rehm, Heidi L., Funke, Birgit H., Sunyaev, Shamil R.

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A comprehensive genome report for COVID-19 patients: GENCOV Study Canada por Frangione, Erika, Casalino, Selina, Chowdhary, Sunakshi, Mighton, Chloe, Faghfoury, Hanna, Bombard, Yvonne, Strug, Lisa, Pugh, Trevor, Simpson, Jared, Lebo, Matthew, Hao, Limin, Lane, William, Taher, Jennifer, Lerner-Ellis, Jordan

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A curated gene list for reporting results of newborn genomic sequencing por Ceyhan-Birsoy, Ozge, Machini, Kalotina, Lebo, Matthew S., Yu, Tim W., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy, Green, Robert C., Beggs, Alan H., Rehm, Heidi L.

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Harmonizing variant classification for return of results in the All of Us Research Program por Harrison, Steven M., Austin‐Tse, Christina A., Kim, Serra, Lebo, Matthew, Leon, Annette, Murdock, David, Radhakrishnan, Aparna, Shirts, Brian H., Steeves, Marcie, Venner, Eric, Gibbs, Richard A., Jarvik, Gail P., Rehm, Heidi L.

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Discordant Results Between Conventional Newborn Screening and Genomic Sequencing in the BabySeq Project por 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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Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease por Chopra, Sameer S, Leshchiner, Ignaty, Duzkale, Hatice, McLaughlin, Heather, Giovanni, Monica, Zhang, Chengsheng, Stitziel, Nathan, Fingeroth, Joyce, Joyce, Robin M, Lebo, Matthew, Rehm, Heidi, Vuzman, Dana, Maas, Richard, Sunyaev, Shamil R, Murray, Michael, Cassa, Christopher A

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