Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report

por Koeller, Diane R., Schwartz, Alison, Manning, Danielle K., Dong, Fei, Lindeman, Neal I., Garber, Judy E., Ghazani, Arezou A.
Publicado 2020

An optimized protocol for evaluating pathogenicity of VHL germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germli...

por Koeller, Diane R., Manning, Danielle K., Schwartz, Alison, Chittenden, Anu, Hayes, Connor P., Abraamyan, Feruza, Rana, Huma Q., Lindeman, Neal I., Garber, Judy E., Ghazani, Arezou A.
Publicado 2022

A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype

por Dwyer, Noelle D, Manning, Danielle K, Moran, Jennifer L, Mudbhary, Raksha, Fleming, Michael S, Favero, Carlita B, Vock, Vita M, O'Leary, Dennis DM, Walsh, Christopher A, Beier, David R
Publicado 2011

Targeted Informatics for Optimal Detection, Characterization, and Quantification of FLT3 Internal Tandem Duplications Across Multiple Next-Generation Sequencing Platforms

por Tsai, Harrison K., Brackett, Diane G., Szeto, David, Frazier, Ryan, MacLeay, Allison, Davineni, Phani, Manning, Danielle K., Garcia, Elizabeth, Lindeman, Neal I., Le, Long P., Lennerz, Jochen K., Gibson, Christopher J., Lindsley, R. Coleman, Kim, Annette S., Nardi, Valentina
Publicado 2020

An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes

por Schwartz, Alison, Manning, Danielle K., Koeller, Diane R., Chittenden, Anu, Isidro, Raymond A., Hayes, Connor P., Abraamyan, Feruza, Manam, Monica Devi, Dwan, Meaghan, Barletta, Justine A., Sholl, Lynette M., Yurgelun, Matthew B., Rana, Huma Q., Garber, Judy E., Ghazani, Arezou A.
Publicado 2022

ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning

por Czarnecki, Peter G., Gabriel, George C., Manning, Danielle K., Sergeev, Mikhail, Lemke, Kristi, Klena, Nikolai T., Liu, Xiaoqin, Chen, Yu, Li, You, San Agustin, Jovenal T., Garnaas, Maija K., Francis, Richard J., Tobita, Kimimasa, Goessling, Wolfram, Pazour, Gregory J., Lo, Cecilia W., Beier, David R., Shah, Jagesh V.
Publicado 2015

Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor

por Schienda, Jaclyn, Church, Alanna J., Corson, Laura B., Decker, Brennan, Clinton, Catherine M., Manning, Danielle K., Imamovic-Tuco, Alma, Reidy, Deirdre, Strand, Gianna R., Applebaum, Mark A., Bagatell, Rochelle, DuBois, Steven G., Glade-Bender, Julia L., Kang, Wenjun, Kim, AeRang, Laetsch, Theodore W., Macy, Margaret E., Maese, Luke, Pinto, Navin, Sabnis, Amit J., Schiffman, Joshua D., Colace, Susan I., Volchenboum, Samuel L., Weiser, Daniel A., Nowak, Jonathan A., Lindeman, Neal I., Janeway, Katherine A., Crompton, Brian D., Kamihara, Junne
Publicado 2021