Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With p53 Germline Mutations von GONZALEZ, Kelly D, NOLTNER, Katie A, WEITZEL, Jeffrey N, BUZIN, Carolyn H, DONGQING GU, WEN-FONG, Cindy Y, NGUYEN, Vu Q, HAN, Jennifer H, LOWSTUTER, Katrina, LONGMATE, Jeffrey, SOMMER, Steve S

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Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis von Butterfield, Russell J, Stevenson, Tamara J, Xing, Lingyan, Newcomb, Tara M, Nelson, Benjamin, Zeng, Wenqi, Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Farwell Gonzalez, Kelly D, Wei, Jia-Perng, Chao, Elizabeth C, Prior, Thomas W, Snyder, Pamela J, Bonkowsky, Joshua L, Swoboda, Kathryn J

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Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing von Shahmirzadi, Layla, Chao, Elizabeth C., Palmaer, Erika, Parra, Melissa C., Tang, Sha, Gonzalez, Kelly D. Farwell

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Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations von Basel-Vanagaite, Lina, Yilmaz, Rüstem, Tang, Sha, Reuter, Miriam S., Rahner, Nils, Grange, Dorothy K., Mortenson, Megan, Koty, Patrick, Feenstra, Heather, Farwell Gonzalez, Kelly D., Sticht, Heinrich, Boddaert, Nathalie, Désir, Julie, Anyane-Yeboa, Kwame, Zweier, Christiane, Reis, André, Kubisch, Christian, Jewett, Tamison, Zeng, Wenqi, Borck, Guntram

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Evidence for mutation showers von Wang, Jicheng, Gonzalez, Kelly D, Scaringe, William A, Tsai, Kimberly, Liu, Ning, Gu, Dongqing, Li, Wenyan, Hill, Kathleen A, Sommer, Steve S

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High frequency of de novo mutations in Li-Fraumeni syndrome von Gonzalez, Kelly D., Buzin, Carolyn, Noltner, Katie A, Gu, Dongqing, Li, Wenyan, Malkin, David, Sommer, Steve

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Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes von Farwell Gonzalez, Kelly D., Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Pellegrino, Joan E., Miller, Ryan T., Zeng, Wenqi, Chao, Elizabeth C.

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Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking‐associated signature von Gu, Dongqing, Scaringe, William A., Li, Kai, Saldivar, Juan‐Sebastian, Hill, Kathleen A., Chen, Zhenbin, Gonzalez, Kelly D., Sommer, Steve S.

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Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability von Rohena, Luis, Neidich, Julie, Truitt Cho, Megan, Gonzalez, Kelly DF, Tang, Sha, Devinsky, Orrin, Chung, Wendy K

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Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates von Scaringe, William A., Li, Kai, Gu, Dongqing, Gonzalez, Kelly D., Chen, Zhenbin, Hill, Kathleen A., Sommer, Steve S.

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Somatic microindels: analysis in mouse soma and comparison with the human germline von Gonzalez, Kelly D., Hill, Kathleen A., Li, Kai, Li, Wenyan, Scaringe, William A., Wang, Ji-Cheng, Gu, Dongqing, Sommer, Steve S.

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Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype von Hill, Kathleen A., Buettner, Victoria L., Heidt, Analeah, Chen, Lin-Ling, Li, Wenyan, Gonzalez, Kelly D., Wang, Ji-Cheng, Scaringe, William A., Sommer, Steve S.

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Preferential occurrence of 1-2 microindels von Hill, Kathleen A., Gonzalez, Kelly D., Scaringe, William A., Wang, Ji-Cheng, Sommer, Steve S.

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A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice von Tuzovic, Lea, Yu, Lan, Zeng, Wenqi, Li, Xiang, Lu, Hong, Lu, Hsiao-Mei, Gonzalez, Kelly DF, Chung, Wendy K

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The potential of handheld near infrared spectroscopy to detect food adulteration: Results of a global, multi-instrument inter-laboratory study von McGrath, Terry F., Haughey, Simon A., Islam, Marivil, Elliott, Christopher T., Kelly, S.D., Suman, M., Rindy, T., Taous, F., García-González, D.L., Singh, D., Nan Wai, Soe, Zitek, A., Jandric, Z., Almirall, J., Acosta, A., Thao, C., Islam, M., Hoo Fung, L., Kim, Jae-Kyung, Burns, M., Strashnov, I., Sarver, R., Dua, A., Mcvey, C., Shannon, M., Galvin-King, P., Logan, N., Erasmus, S., Samokhin, A., Jie Bay, Lian, Muhammad, S.A., Novak, V., Pérez-Marín, D., Wunderlin, D., Kasozi, G.N., Baeten, V., Handagiripathira, H.M.N.L.

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Pore-forming bioinks to enable spatio-temporally defined gene delivery in bioprinted tissues von Gonzalez-Fernandez, T., Rathan, S., Hobbs, C., Pitacco, P., Freeman, F.E., Cunniffe, G.M., Dunne, N.J., McCarthy, H.O., Nicolosi, V., O'Brien, F.J., Kelly, D.J.

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Phase II study of azacitidine with pembrolizumab in patients with intermediate‐1 or higher‐risk myelodysplastic syndrome von Chien, Kelly S., Kim, Kunhwa, Nogueras‐Gonzalez, Graciela M., Borthakur, Gautam, Naqvi, Kiran, Daver, Naval G., Montalban‐Bravo, Guillermo, Cortes, Jorge E., DiNardo, Courtney D., Jabbour, Elias, Alvarado, Yesid, Andreeff, Michael, Bose, Prithviraj, Jain, Nitin, Kadia, Tapan M., Huang, Xuelin, Sheppard, Kimberly B., Klingner‐Winton, Cheri, Pierce, Sherry A., Dong, Xiao Qin, Soltysiak, Kelly A., Kantarjian, Hagop M., Garcia‐Manero, Guillermo

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Mesenchymal stem cell fate following non-viral gene transfection strongly depends on the choice of delivery vector von Gonzalez-Fernandez, T., Sathy, B.N., Hobbs, C., Cunniffe, G.M., McCarthy, H.O., Dunne, N.J., Nicolosi, V., O'Brien, F.J., Kelly, D.J.

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Modifiable Lifestyle Factors for Primary Prevention of CKD: A Systematic Review and Meta-Analysis von Kelly, Jaimon T., Su, Guobin, Zhang, La, Qin, Xindong, Marshall, Skye, Gonzalez-Ortiz, Ailema, Clase, Catherine M., Campbell, Katrina L., Xu, Hong, Carrero, Juan-Jesus

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Phase 3 Safety and Efficacy of AZD1222 (ChAdOx1 nCoV-19) Covid-19 Vaccine von Falsey, Ann R, Sobieszczyk, Magdalena E, Hirsch, Ian, Sproule, Stephanie, Robb, Merlin L, Corey, Lawrence, Neuzil, Kathleen M, Hahn, William, Hunt, Julie, Mulligan, Mark J, McEvoy, Charlene, DeJesus, Edwin, Hassman, Michael, Little, Susan J, Pahud, Barbara A, Durbin, Anna, Pickrell, Paul, Daar, Eric S, Bush, Larry, Solis, Joel, Carr, Quito Osuna, Oyedele, Temitope, Buchbinder, Susan, Cowden, Jessica, Vargas, Sergio L, Guerreros Benavides, Alfredo, Call, Robert, Keefer, Michael C, Kirkpatrick, Beth D, Pullman, John, Tong, Tina, Brewinski Isaacs, Margaret, Benkeser, David, Janes, Holly E, Nason, Martha C, Green, Justin A, Kelly, Elizabeth J, Maaske, Jill, Mueller, Nancy, Shoemaker, Kathryn, Takas, Therese, Marshall, Richard P, Pangalos, Menelas N, Villafana, Tonya, Gonzalez-Lopez, Antonio

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