Bilaketaren emaitzak - Vincent, Lisa M.
- Erakusten 1 - 13 emaitzak -- 13
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ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation nork Gelb, Bruce D., Cavé, Hélène, Dillon, Mitchell W., Gripp, Karen W., Lee, Jennifer A., Mason-Suares, Heather, Rauen, Katherine A., Williams, Bradley, Zenker, Martin, Vincent, Lisa M.
Argitaratua 2018Text -
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Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome type 2 nork Vincent, Lisa M., Gilbert, Fred, DiPace, Jennifer I., Ciccone, Carla, Markello, Thomas C., Jeong, Andrew, Dorward, Heidi, Westbroek, Wendy, Gahl, William A., Bussel, James B., Huizing, Marjan
Argitaratua 2010Text -
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Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework nork Grant, Andrew R., Cushman, Brandon J., Cavé, Hélène, Dillon, Mitchell W., Gelb, Bruce D., Gripp, Karen W., Lee, Jennifer A., Mason-Suares, Heather, Rauen, Katherine A., Tartaglia, Marco, Vincent, Lisa M., Zenker, Martin
Argitaratua 2018Text -
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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation... nork Rivera-Muñoz, Edgar A., Milko, Laura V., Harrison, Steven, Azarriti, Danielle, Kurtz, C. Lisa, Lee, Kristy, Mester, Jessica L., Weaver, Meredith A., Currey, Erin, Craigen, William, Eng, Charis, Funke, Birgit, Hegde, Madhuri, Hershberger, Ray E., Mao, Rong, Steiner, Robert D., Vincent, Lisa M., Martin, Christa L., Plon, Sharon E., Ramos, Erin, Rehm, Heidi, Watson, Michael, Berg, Jonathan S.
Argitaratua 2018Text -
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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp... nork Kelly, Melissa A, Caleshu, Colleen, Morales, Ana, Buchan, Jillian, Wolf, Zena, Harrison, Steven M, Cook, Stuart, Dillon, Mitchell W, Garcia, John, Haverfield, Eden, Jongbloed, Jan D H, Macaya, Daniela, Manrai, Arjun, Orland, Kate, Richard, Gabriele, Spoonamore, Katherine, Thomas, Matthew, Thomson, Kate, Vincent, Lisa M, Walsh, Roddy, Watkins, Hugh, Whiffin, Nicola, Ingles, Jodie, van Tintelen, J Peter, Semsarian, Christopher, Ware, James S, Hershberger, Ray, Funke, Birgit
Argitaratua 2018Text -
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Scaling Resolution of Variant Classification Differences in ClinVar between 41 Clinical Laboratories Through an Outlier Approach nork Harrison, Steven M., Dolinksy, Jill S., Chen, Wenjie, Collins, Christin D., Das, Soma, Deignan, Joshua L., Garber, Kathryn B., Garcia, John, Jarinova, Olga, Knight Johnson, Amy E., Koskenvuo, Juha W., Lee, Hane, Mao, Rong, Mar-Heyming, Rebecca, McFaddin, Andrew, Moyer, Krista, Nagan, Narasimhan, Rentas, Stefan, Santani, Avni B., Seppälä, Eija H., Shirts, Brian, Tidwell, Timothy, Topper, Scott, Vincent, Lisa M., Vinette, Kathy, Rehm, Heidi L.
Argitaratua 2018Text -
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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome nork Capri, Yline, Flex, Elisabetta, Krumbach, Oliver H.F., Carpentieri, Giovanna, Cecchetti, Serena, Lißewski, Christina, Rezaei Adariani, Soheila, Schanze, Denny, Brinkmann, Julia, Piard, Juliette, Pantaleoni, Francesca, Lepri, Francesca R., Goh, Elaine Suk-Ying, Chong, Karen, Stieglitz, Elliot, Meyer, Julia, Kuechler, Alma, Bramswig, Nuria C., Sacharow, Stephanie, Strullu, Marion, Vial, Yoann, Vignal, Cédric, Kensah, George, Cuturilo, Goran, Kazemein Jasemi, Neda S., Dvorsky, Radovan, Monaghan, Kristin G., Vincent, Lisa M., Cavé, Hélène, Verloes, Alain, Ahmadian, Mohammad R., Tartaglia, Marco, Zenker, Martin
Argitaratua 2019Text -
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Noonan Syndrome in Diverse Populations nork Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary TK, Leung, Gordon KC, Tekendo-Ngongang, Cedrik, Uwineza, Annette, Thong, Meow-Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem Nsikak, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul-Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa Jagdish, Sirisena, Nirmala D., Dissanayake, Vajira H.W., Paththinige, C. Sampath, Mishra, Rupesh, Klein-Zighelboim, Eva, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Barriga, Hugo Hernán Abarca, Skinner, Steven A., Prijoles, E.J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri-Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Obregon, María Gabriela, Linguraru, Marius George, Muenke, Maximilian
Argitaratua 2017Text