ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation
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
Published in Genetics in medicine (01.11.2018)
Published in Genetics in medicine (01.11.2018)
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Reliability of blood lactate as a measure of exercise intensity in different strains of mice during forced treadmill running
Lønbro, Simon, Wiggins, Jennifer M, Wittenborn, Thomas, Elming, Pernille Byrialsen, Rice, Lori, Pampo, Christine, Lee, Jennifer A, Siemann, Dietmar W, Horsman, Michael R
Published in PloS one (03.05.2019)
Published in PloS one (03.05.2019)
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Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya
Published in Nature communications (12.10.2018)
Published in Nature communications (12.10.2018)
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Skin-like pressure and strain sensors based on transparent elastic films of carbon nanotubes
Lipomi, Darren J., Vosgueritchian, Michael, Tee, Benjamin C-K., Hellstrom, Sondra L., Lee, Jennifer A., Fox, Courtney H., Bao, Zhenan
Published in Nature nanotechnology (23.10.2011)
Published in Nature nanotechnology (23.10.2011)
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Detection of metabolic change in glioblastoma cells after radiotherapy using hyperpolarized 13C‐MRI
Kawai, Tatsuya, Brender, Jeffrey R., Lee, Jennifer A., Kramp, Tamalee, Kishimoto, Shun, Krishna, Murali C., Tofilon, Philip, Camphausen, Kevin A.
Published in NMR in biomedicine (01.07.2021)
Published in NMR in biomedicine (01.07.2021)
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Livestream, group movement program for people living with cognitive impairment and care partners: A randomized clinical trial
Barnes, Deborah E., Jiang, Fei, Benjamin, Cynthia, Lee, Jennifer A., Sudore, Rebecca L., Mehling, Wolf E., Chesney, Margaret A., Chao, Linda L., Nicosia, Francesca M.
Published in Alzheimer's & dementia : translational research & clinical interventions (01.04.2024)
Published in Alzheimer's & dementia : translational research & clinical interventions (01.04.2024)
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Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
Spellicy, Catherine J, Peng, Yunhui, Olewiler, Leah, Cathey, Sara S, Rogers, R Curtis, Bartholomew, Dennis, Johnson, Jacob, Alexov, Emil, Lee, Jennifer A, Friez, Michael J, Jones, Julie R
Published in Journal of human genetics (01.06.2019)
Published in Journal of human genetics (01.06.2019)
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Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya
Published in Nature communications (19.11.2018)
Published in Nature communications (19.11.2018)
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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome
Helgeson, Maria, Keller-Ramey, Jennifer, Knight Johnson, Amy, Lee, Jennifer A, Magner, Daniel B, Deml, Brett, Deml, Jacea, Hu, Ying-Ying, Li, Zejuan, Donato, Kirsten, Das, Soma, Laframboise, Rachel, Tremblay, Sandra, Krantz, Ian, Noon, Sarah, Hoganson, George, Burton, Jennifer, Schaaf, Christian P, Del Gaudio, Daniela
Published in Journal of human genetics (01.03.2018)
Published in Journal of human genetics (01.03.2018)
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The Analysis of 100 Genes Supports the Grouping of Three Highly Divergent Amoebae: Dictyostelium, Entamoeba, and Mastigamoeba
Bapteste, Eric, Brinkmann, Henner, Lee, Jennifer A., Moore, Dorothy V., Sensen, Christoph W., Gordon, Paul, Duruflé, Laure, Gaasterland, Terry, Lopez, Philippe, Müller, Miklós, Philippe, Hervé
Published in Proceedings of the National Academy of Sciences - PNAS (05.02.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (05.02.2002)
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HSD10 disease in a female: A case report and review of literature
Upadia, Jariya, Walano, Nicolette, Noh, Grace S., Liu, Jiao, Li, Yuwen, Deputy, Stephen, Elliott, Lindsay T., Wong, Joaquin, Lee, Jennifer A., Caylor, Raymond C., Andersson, Hans C.
Published in JIMD reports (01.11.2021)
Published in JIMD reports (01.11.2021)
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Skin-like pressure and strain sensors based on transparent elastic films of carbon nanotubes
Lipomi, Darren J., Vosgueritchian, Michael, Tee, Benjamin C-K., Hellstrom, Sondra L., Lee, Jennifer A., Fox, Courtney H., Bao, Zhenan
Published in Nature nanotechnology (01.12.2011)
Published in Nature nanotechnology (01.12.2011)
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Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
LEE, Jennifer A, INOUE, Ken, CHEUNG, Sau W, SHAW, Chad A, STANKIEWICZ, Pawel, LUPSKI, James R
Published in Human molecular genetics (15.07.2006)
Published in Human molecular genetics (15.07.2006)
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Regional genomic instability predisposes to complex dystrophin gene rearrangements
Oshima, Junko, Magner, Daniel B, Lee, Jennifer A, Breman, Amy M, Schmitt, Eric S, White, Lisa D, Crowe, Carol A, Merrill, Michelle, Jayakar, Parul, Rajadhyaksha, Aparna, Eng, Christine M, del Gaudio, Daniela
Published in Human genetics (01.09.2009)
Published in Human genetics (01.09.2009)
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