Showing 1 - 5 results of 5 for search 'Dianalee McKnight', query time: 0.02s
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P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations by Britt Johnson, Ana Morales, Flavia Facio, Laure Fresard, Dianalee McKnight, Yuya Kobayashi, Jason Reuter, Keith Nykamp, Swaroop Aradhya, Alexandre Colavin
Published 2023-01-01
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High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity by Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L. Helbig, Dianalee McKnight, Amanda S. Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George Jr.
Published 2022-03-01
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Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism by Hyung-Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaetan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri, Eric Muller, Dianalee McKnight, Erin Torti, Franz Rüschendorf, Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il-Keun Kong, Suneeta Madan-Khetarpal, Cheol-Hee Kim
Published 2019-10-01
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