ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation... von Rivera‐Muñoz, Edgar A., Milko, Laura V., Harrison, Steven M., Azzariti, Danielle R., Kurtz, C. Lisa, Lee, Kristy, Mester, Jessica L., Weaver, Meredith A., Currey, Erin, Craigen, William, Eng, Charis, Funke, Birgit, Hegde, Madhuri, Hershberger, Ray E., Mao, Rong, Steiner, Robert D., Vincent, Lisa M., Martin, Christa L., Plon, Sharon E., Ramos, Erin, Rehm, Heidi L., Watson, Michael, Berg, Jonathan S.

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MicroRNA-29 Fine-tunes the Expression of Key FOXA2-Activated Lipid Metabolism Genes and Is Dysregulated in Animal Models of Insulin Resistance and Diabetes von KURTZ, C. Lisa, PECK, Bailey C. E, BIDDINGER, Sudha B, VICKERS, Kasey C, SETHUPATHY, Praveen, FANNIN, Emily E, BEYSEN, Carine, JI MIAO, LANDSTREET, Stuart R, SHENGLI DING, TURAGA, Vandana, LUND, P. Kay, TURNER, Scott

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Inhibition of miR-29 has a significant lipid-lowering benefit through suppression of lipogenic programs in liver von Kurtz, C. Lisa, Fannin, Emily E., Toth, Cynthia L., Pearson, Daniel S., Vickers, Kasey C., Sethupathy, Praveen

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Addressing Bias in Small RNA Library Preparation for Sequencing: A New Protocol Recovers MicroRNAs that Evade Capture by Current Methods von Baran-Gale, Jeanette, Kurtz, C Lisa, Erdos, Michael R, Sison, Christina, Young, Alice, Fannin, Emily E, Chines, Peter S, Sethupathy, Praveen

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MicroRNA-29 is an essential regulator of brain maturation through regulation of CH methylation von Swahari, Vijay, Nakamura, Ayumi, Hollville, Emilie, Stroud, Hume, Simon, Jeremy M., Ptacek, Travis S., Beck, Matthew V., Flowers, Cornelius, Guo, Jiami, Plestant, Charlotte, Liang, Jie, Kurtz, C. Lisa, Kanke, Matt, Hammond, Scott M., He, You-Wen, Anton, E.S., Sethupathy, Praveen, Moy, Sheryl S., Greenberg, Michael E., Deshmukh, Mohanish

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Hepatocyte ABCA1 Deletion Impairs Liver Insulin Signaling and Lipogenesis von Key, Chia-Chi C., Liu, Mingxia, Kurtz, C. Lisa, Chung, Soonkyu, Boudyguina, Elena, Dinh, Timothy A., Bashore, Alexander, Phelan, Peter E., Freedman, Barry I., Osborne, Timothy F., Zhu, Xuewei, Ma, Lijun, Sethupathy, Praveen, Biddinger, Sudha B., Parks, John S.

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Transcriptomic Analysis of Chronic Hepatitis B and C and Liver Cancer Reveals MicroRNA-Mediated Control of Cholesterol Synthesis Programs von Selitsky, Sara R, Dinh, Timothy A, Toth, Cynthia L, Kurtz, C Lisa, Honda, Masao, Struck, Benjamin R, Kaneko, Shuichi, Vickers, Kasey C, Lemon, Stanley M, Sethupathy, Praveen

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miR-29 is an important driver of aging-related phenotypes von Swahari, Vijay, Nakamura, Ayumi, Hollville, Emilie, Hung, Yu-Han, Kanke, Matt, Kurtz, C. Lisa, Caravia, Xurde M., Roiz-Valle, David, He, Shenghui, Krishnamurthy, Janakiraman, Kapoor, Sahil, Prasad, Varun, Flowers, Cornelius, Beck, Matt, Baran-Gale, Jeanette, Sharpless, Norman, López-Otín, Carlos, Sethupathy, Praveen, Deshmukh, Mohanish

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Beta cell 5'-shifted isomiRs are candidate regulatory hubs in type 2 diabetes von Baran-Gale, Jeanette, Fannin, Emily E, Kurtz, C Lisa, Sethupathy, Praveen

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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification von Chora, Joana R., Iacocca, Michael A., Tichý, Lukáš, Wand, Hannah, Kurtz, C. Lisa, Zimmermann, Heather, Leon, Annette, Williams, Maggie, Humphries, Steve E., Hooper, Amanda J., Trinder, Mark, Brunham, Liam R., Costa Pereira, Alexandre, Jannes, Cinthia E., Chen, Margaret, Chonis, Jessica, Wang, Jian, Kim, Serra, Johnston, Tami, Soucek, Premysl, Kramarek, Michal, Leigh, Sarah E., Carrié, Alain, Sijbrands, Eric J., Hegele, Robert A., Freiberger, Tomáš, Knowles, Joshua W., Bourbon, Mafalda

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International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework von James, Cynthia A., Jongbloed, Jan D.H., Hershberger, Ray E., Morales, Ana, Judge, Daniel P., Syrris, Petros, Pilichou, Kalliopi, Domingo, Argelia Medeiros, Murray, Brittney, Cadrin-Tourigny, Julia, Lekanne Deprez, Ronald, Celeghin, Rudy, Protonotarios, Alexandros, Asatryan, Babken, Brown, Emily, Jordan, Elizabeth, McGlaughon, Jennifer, Thaxton, Courtney, Kurtz, C. Lisa, van Tintelen, J. Peter

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Cyclic-AMP response element binding protein (CREB) and microRNA miR-29b regulate renalase gene expression under catecholamine excess conditions von Iyer, Dhanya R., Arige, Vikas, Ananthamohan, Kalyani, Sundaramurthy, Venkatasubramaniam, Tokinoya, Katsuyuki, Aoki, Kai, Kurtz, C. Lisa, Sethupathy, Praveen, Takekoshi, Kazuhiro, Mahapatra, Nitish R.

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ClinVar database of global familial hypercholesterolemia‐associated DNA variants von Iacocca, Michael A., Chora, Joana R., Carrié, Alain, Freiberger, Tomáš, Leigh, Sarah E., Defesche, Joep C., Kurtz, C. Lisa, DiStefano, Marina T., Santos, Raul D., Humphries, Steve E., Mata, Pedro, Jannes, Cinthia E., Hooper, Amanda J., Wilemon, Katherine A., Benlian, Pascale, O'Connor, Robert, Garcia, John, Wand, Hannah, Tichy, Lukáš, Sijbrands, Eric J., Hegele, Robert A., Bourbon, Mafalda, Knowles, Joshua W.

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Acute suppression of insulin resistance-associated hepatic miR-29 in vivo improves glycemic control in adult mice von Hung, Yu-Han, Kanke, Matt, Kurtz, C Lisa, Cubitt, Rebecca, Bunaciu, Rodica P, Miao, Ji, Zhou, Liye, Graham, James L, Hussain, M Mahmood, Havel, Peter, Biddinger, Sudha, White, Phillip J, Sethupathy, Praveen

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Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Ca... von Morales, Ana, Ing, Alexander, Antolik, Christian, Austin-Tse, Christina, Baudhuin, Linnea M, Bronicki, Lucas, Cirino, Allison, Hawley, Megan H, Fietz, Michael, Garcia, John, Ho, Carolyn, Ingles, Jodie, Jarinova, Olga, Johnston, Tami, Kelly, Melissa A, Kurtz, C Lisa, Lebo, Matt, Macaya, Daniela, Mahanta, Lisa, Maleszewski, Joseph, Manrai, Arjun K, Murray, Mitzi, Richard, Gabriele, Semsarian, Chris, Thomson, Kate L, Winder, Tom, Ware, James S, Hershberger, Ray E, Funke, Birgit H, Vatta, Matteo

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A mouse diversity panel approach reveals the potential for clinical kidney injury due to DB289 not predicted by classical rodent models von Harrill, Alison H, Desmet, Kristina D, Wolf, Kristina K, Bridges, Arlene S, Eaddy, J Scott, Kurtz, C Lisa, Hall, J Ed, Paine, Mary F, Tidwell, Richard R, Watkins, Paul B

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Dysregulation of protein degradation pathways may mediate the liver injury and phospholipidosis associated with a cationic amphiphilic antibiotic drug von Mosedale, Merrie, Wu, Hong, Kurtz, C. Lisa, Schmidt, Stephen P., Adkins, Karissa, Harrill, Alison H.

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Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM) von Morales, Ana, Ing, Alexander, Antolik, Christian, Austin-Tse, Christina, Baudhuin, Linnea M., Bronicki, Lucas, Cirino, Allison, Hawley, Megan H., Fietz, Michael, Garcia, John, Ho, Carolyn, Ingles, Jodie, Jarinova, Olga, Johnston, Tami, Kelly, Melissa A., Kurtz, C. Lisa, Lebo, Matt, Macaya, Daniela, Mahanta, Lisa, Maleszewski, Joseph, Manrai, Arjun K., Murray, Mitzi, Richard, Gabriele, Semsarian, Chris, Thomson, Kate L., Winder, Tom, Ware, James S., Hershberger, Ray E., Funke, Birgit H., Vatta, Matteo

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Molecular characterization and delineation of subtle deletions in de novo “balanced” chromosomal rearrangements von Kumar, Arun, Becker, Laurie A., Depinet, Theresa W., Haren, J. Marie, Kurtz, C. Lisa, Robin, Nathaniel H., Cassidy, Suzanne B., Wolff, Daynna J., Schwartz, S.

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ClinVar database of global familial hypercholesterolemia‐associated DNA variants von Iacocca, Michael, Chora, Joana, Carrié, Alain, Freiberger, Tomáš, Leigh, Sarah, Defesche, Joep, Kurtz, C. Lisa, Distefano, Marina, Santos, Raul, Humphries, Steve, Mata, Pedro, Jannes, Cinthia, Hooper, Amanda, Wilemon, Katherine, Benlian, Pascale, O'Connor, Robert, Garcia, John, Wand, Hannah, Tichy, Lukáš, Sijbrands, Eric, Hegele, Robert, Bourbon, Mafalda, Knowles, Joshua

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