High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism
Kelleher, 3rd, Raymond J, Geigenmüller, Ute, Hovhannisyan, Hayk, Trautman, Edwin, Pinard, Robert, Rathmell, Barbara, Carpenter, Randall, Margulies, David
Published in PloS one (27.04.2012)
Published in PloS one (27.04.2012)
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Journal Article
Genetic diagnosis of primary immune deficiencies
Morra, Massimo, Geigenmuller, Ute, Curran, John, Rainville, Irene R, Brennan, Tim, Curtis, Judd, Reichert, Vienna, Hovhannisyan, Hayk, Majzoub, Joseph, Miller, David T
Published in Immunology and allergy clinics of North America (01.05.2008)
Published in Immunology and allergy clinics of North America (01.05.2008)
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Journal Article
Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory
Gardner, Sabrina A, Weymouth, Katelyn S, Kelly, Wei S, Bogdanova, Ekaterina, Chen, Wenjie, Lupu, Daniel, Suhl, Joshua, Zeng, Qiandong, Geigenmüller, Ute, Boles, Debbie, Okamoto, Patricia M, McDowell, Geraldine, Hayden, Melissa A, Nagan, Narasimhan
Published in Hereditary cancer in clinical practice (04.01.2018)
Published in Hereditary cancer in clinical practice (04.01.2018)
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Journal Article
A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes
Pao, Ping-Chieh, Seo, Jinsoo, Lee, Audrey, Kritskiy, Oleg, Patnaik, Debasis, Penney, Jay, Raju, Ravikiran M, Geigenmuller, Ute, Silva, M Catarina, Lucente, Diane E, Gusella, James F, Dickerson, Bradford C, Loon, Anjanet, Yu, Margaret X, Bula, Michael, Yu, Melody, Haggarty, Stephen J, Tsai, Li-Huei
Published in Proceedings of the National Academy of Sciences - PNAS (18.04.2023)
Published in Proceedings of the National Academy of Sciences - PNAS (18.04.2023)
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Journal Article
Processing of Nonstructural Protein 1a of Human Astrovirus
Geigenmüller, Ute, Chew, Teri, Ginzton, Nancy, Matsui, Suzanne M.
Published in Journal of Virology (01.02.2002)
Published in Journal of Virology (01.02.2002)
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Journal Article
Gene expression analysis uncovers novel hedgehog interacting protein (HHIP) effects in human bronchial epithelial cells
Zhou, Xiaobo, Qiu, Weiliang, Sathirapongsasuti, J. Fah, Cho, Michael H., Mancini, John D., Lao, Taotao, Thibault, Derek M., Litonjua, Augusto A., Bakke, Per S., Gulsvik, Amund, Lomas, David A., Beaty, Terri H., Hersh, Craig P., Anderson, Christopher, Geigenmuller, Ute, Raby, Benjamin A., Rennard, Stephen I., Perrella, Mark A., Choi, Augustine M.K., Quackenbush, John, Silverman, Edwin K.
Published in Genomics (San Diego, Calif.) (01.05.2013)
Published in Genomics (San Diego, Calif.) (01.05.2013)
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Journal Article
Assuring the quality of next-generation sequencing in clinical laboratory practice
Gargis, Amy S, Kalman, Lisa, Berry, Meredith W, Bick, David P, Dimmock, David P, Hambuch, Tina, Lu, Fei, Lyon, Elaine, Voelkerding, Karl V, Zehnbauer, Barbara A, Agarwala, Richa, Bennett, Sarah F, Chen, Bin, Chin, Ephrem L H, Compton, John G, Das, Soma, Farkas, Daniel H, Ferber, Matthew J, Funke, Birgit H, Furtado, Manohar R, Ganova-Raeva, Lilia M, Geigenmüller, Ute, Gunselman, Sandra J, Hegde, Madhuri R, Johnson, Philip L F, Kasarskis, Andrew, Kulkarni, Shashikant, Lenk, Thomas, Liu, C S Jonathan, Manion, Megan, Manolio, Teri A, Mardis, Elaine R, Merker, Jason D, Rajeevan, Mangalathu S, Reese, Martin G, Rehm, Heidi L, Simen, Birgitte B, Yeakley, Joanne M, Zook, Justin M, Lubin, Ira M
Published in Nature biotechnology (01.11.2012)
Published in Nature biotechnology (01.11.2012)
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Journal Article
Methods and Systems for Determining Autism Spectrum Disorder Risk
Luber, Jeffrey R, Damian, Doris, Geigenmuller, Ute, Pacula, Maciej, DePristo, Mark A
Year of Publication 11.07.2024
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Year of Publication 11.07.2024
Patent
Methods and Systems for Determining Autism Spectrum Disorder Risk
Luber, Jeffrey R, Damian, Doris, Geigenmuller, Ute, Pacula, Maciej, DePristo, Mark A
Year of Publication 25.04.2024
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Year of Publication 25.04.2024
Patent
Methods and systems for determining autism spectrum disorder risk
Luber, Jeffrey R, Damian, Doris, Geigenmuller, Ute, Pacula, Maciej, DePristo, Mark A
Year of Publication 13.06.2023
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Year of Publication 13.06.2023
Patent