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Alcohol‐Induced Liver Injury: Down‐regulation and Redistribution of Rab3D Results in Atypical Protein Trafficking by Carol A. Casey, Amanda J. Macke, Ryan R. Gough, Artem N. Pachikov, Mary E. Morris, Paul G. Thomes, Jacy L. Kubik, Melissa S. Holzapfel, Armen Petrosyan
Published 2022-02-01
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Training deep neural density estimators to identify mechanistic models of neural dynamics by Pedro J Gonçalves, Jan-Matthis Lueckmann, Michael Deistler, Marcel Nonnenmacher, Kaan Öcal, Giacomo Bassetto, Chaitanya Chintaluri, William F Podlaski, Sara A Haddad, Tim P Vogels, David S Greenberg, Jakob H Macke
Published 2020-09-01
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Study protocol of a telephone problem-solving intervention for Spanish-speaking caregivers of veterans post-stroke: an 8-session investigator-blinded, two-arm parallel (interventio... by I. Magaly Freytes, Magda K. Schmitzberger, Naiomi Rivera-Rivera, Janet Lopez, Keryl Motta-Valencia, Samuel S. Wu, Tatiana Orozco, Jennifer Hale-Gallardo, Nathaniel Eliazar-Macke, Jennifer H. LeLaurin, Constance R. Uphold
Published 2023-03-01
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Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease by Numrah Fadra, Laura E Schultz-Rogers, Pritha Chanana, Margot A Cousin, Erica L Macke, Alejandro Ferrer, Filippo Pinto e Vairo, Rory J Olson, Gavin R Oliver, Lindsay A Mulvihill, Garrett Jenkinson, Eric W Klee
Published 2024-04-01
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Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder by Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David Coulter, Eric W. Klee, Sureni V. Mullegama, Yili Xie, Brendan C. Lanpher, Emma C. Bedoukian, Cara M. Skraban, Laurent Villard, Mathieu Milh, Mary L. O. Leppert, Julie S. Cohen
Published 2021-07-01
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O50: A RENEW’d strategy to ending the diagnostic odyssey: Semi-automated REanalysis of NEgative Whole exome/genome cases* by Rory Olson, Alejandro Ferrer, Patrick Duffy, Filippo Pinto E Vairo, Laura Schultz-Rogers, Erica Macke, Stephanie Safgren, Joel Morales-Rosado, Gavin Oliver, Lisa Schimmenti, Eva Kahn, Myra Wick, Ralitza Gavrilova, Michael Meiners, David Rider, Megan Williams, Eric Klee
Published 2023-01-01
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P070: Discerning the meaning of cancer predisposition variants in a pediatric cancer cohort by Erica Macke, Kathleen Schieffer, Mariam Mathew, Marco Leung, Yassmine Akkari, Melanie Babcock, Ying-Chen Claire Hou, Liana Hernandez, Jordan Olberding, Prasad Kopparapu, Vijayakumar Jayaraman, Don Corsmeier, Jessica Howard, Douglas Depoorter, Kristin Zajo, Peter White, Benjamin Kelly, Richard Wilson, Elaine Mardis, Catherine Cottrell
Published 2023-01-01
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Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies by Wei-Hua Lee, Hitoshi Higuchi, Sakae Ikeda, Erica L Macke, Tetsuya Takimoto, Bikash R Pattnaik, Che Liu, Li-Fang Chu, Sandra M Siepka, Kathleen J Krentz, C Dustin Rubinstein, Robert F Kalejta, James A Thomson, Robert F Mullins, Joseph S Takahashi, Lawrence H Pinto, Akihiro Ikeda
Published 2016-11-01
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P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows by Wesley Goar, Kori Kuzma, Kathryn Stahl, Kyle Voytovich, Mariam Mathew, Erica Macke, Melanie Babcock, Ying-Chen Claire Hou, Liana Hernandez, Jordan Olberding, Prasad Kopparapu, Vijayakumar Jayaraman, Don Corsmeier, Jessica Howard, Douglas Depoorter, Ashley Kubatko, Grant Lammi, Marco Leung, Kathleen Schieffer, Yassmine Akkari, Elaine Mardis, Peter White, Catherine Cottrell, Alex Wagner
Published 2023-01-01
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