ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
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.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
MicroRNA-29 Fine-tunes the Expression of Key FOXA2-Activated Lipid Metabolism Genes and Is Dysregulated in Animal Models of Insulin Resistance and Diabetes
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
Published in Diabetes (New York, N.Y.) (01.09.2014)
Published in Diabetes (New York, N.Y.) (01.09.2014)
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Journal Article
MicroRNA-29 is an essential regulator of brain maturation through regulation of CH methylation
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
Published in Cell reports (Cambridge) (06.04.2021)
Published in Cell reports (Cambridge) (06.04.2021)
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Journal Article
Addressing Bias in Small RNA Library Preparation for Sequencing: A New Protocol Recovers MicroRNAs that Evade Capture by Current Methods
Baran-Gale, Jeanette, Kurtz, C Lisa, Erdos, Michael R, Sison, Christina, Young, Alice, Fannin, Emily E, Chines, Peter S, Sethupathy, Praveen
Published in Frontiers in genetics (22.12.2015)
Published in Frontiers in genetics (22.12.2015)
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Journal Article
Hepatocyte ABCA1 Deletion Impairs Liver Insulin Signaling and Lipogenesis
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.
Published in Cell reports (Cambridge) (06.06.2017)
Published in Cell reports (Cambridge) (06.06.2017)
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Journal Article
Transcriptomic Analysis of Chronic Hepatitis B and C and Liver Cancer Reveals MicroRNA-Mediated Control of Cholesterol Synthesis Programs
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
Published in mBio (08.12.2015)
Published in mBio (08.12.2015)
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Journal Article
miR-29 is an important driver of aging-related phenotypes
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
Published in Communications biology (27.08.2024)
Published in Communications biology (27.08.2024)
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Journal Article
Beta cell 5'-shifted isomiRs are candidate regulatory hubs in type 2 diabetes
Baran-Gale, Jeanette, Fannin, Emily E, Kurtz, C Lisa, Sethupathy, Praveen
Published in PloS one (09.09.2013)
Published in PloS one (09.09.2013)
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Journal Article
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
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
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
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Journal Article
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
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
Published in Circulation. Genomic and precision medicine (01.06.2021)
Published in Circulation. Genomic and precision medicine (01.06.2021)
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Journal Article
Cyclic-AMP response element binding protein (CREB) and microRNA miR-29b regulate renalase gene expression under catecholamine excess conditions
Iyer, Dhanya R., Arige, Vikas, Ananthamohan, Kalyani, Sundaramurthy, Venkatasubramaniam, Tokinoya, Katsuyuki, Aoki, Kai, Kurtz, C. Lisa, Sethupathy, Praveen, Takekoshi, Kazuhiro, Mahapatra, Nitish R.
Published in Life sciences (1973) (01.09.2023)
Published in Life sciences (1973) (01.09.2023)
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Journal Article
ClinVar database of global familial hypercholesterolemia‐associated DNA variants
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.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Journal Article
Acute suppression of insulin resistance-associated hepatic miR-29 in vivo improves glycemic control in adult mice
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
Published in Physiological genomics (01.08.2019)
Published in Physiological genomics (01.08.2019)
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Journal Article
A mouse diversity panel approach reveals the potential for clinical kidney injury due to DB289 not predicted by classical rodent models
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
Published in Toxicological sciences (01.12.2012)
Published in Toxicological sciences (01.12.2012)
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Journal Article
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel
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
Published in The Journal of molecular diagnostics : JMD (01.05.2021)
Published in The Journal of molecular diagnostics : JMD (01.05.2021)
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Journal Article
Dysregulation of protein degradation pathways may mediate the liver injury and phospholipidosis associated with a cationic amphiphilic antibiotic drug
Mosedale, Merrie, Wu, Hong, Kurtz, C. Lisa, Schmidt, Stephen P., Adkins, Karissa, Harrill, Alison H.
Published in Toxicology and applied pharmacology (01.10.2014)
Published in Toxicology and applied pharmacology (01.10.2014)
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Journal Article
Molecular characterization and delineation of subtle deletions in de novo “balanced” chromosomal rearrangements
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.
Published in Human genetics (1998)
Published in Human genetics (1998)
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Journal Article
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)
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
Published in The Journal of molecular diagnostics : JMD (01.05.2021)
Published in The Journal of molecular diagnostics : JMD (01.05.2021)
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Journal Article
ClinVar database of global familial hypercholesterolemia‐associated DNA variants
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
Published in Human mutation (11.10.2018)
Published in Human mutation (11.10.2018)
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