The Lipid Droplet Protein Hypoxia-inducible Gene 2 Promotes Hepatic Triglyceride Deposition by Inhibiting Lipolysis

od DiStefano, Marina T., Danai, Laura V., Roth Flach, Rachel J., Chawla, Anil, Pedersen, David J., Guilherme, Adilson, Czech, Michael P.
Izdano u J Biol Chem (2015)

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

od Abou Tayoun, Ahmad N., Pesaran, Tina, DiStefano, Marina T., Oza, Andrea, Rehm, Heidi L., Biesecker, Leslie G., Harrison, Steven M.
Izdano u Hum Mutat (2018)

A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement

od Niehaus, Annie, Azzariti, Danielle R., Harrison, Steven M., DiStefano, Marina T., Hemphill, Sarah E., Senol-Cosar, Ozlem, Rehm, Heidi L.
Izdano u Genet Med (2019)

ClinVar Miner: Demonstrating Utility of a Web-Based Tool for Viewing and Filtering ClinVar Data

od Henrie, Alex, Hemphill, Sarah E., Ruiz-Schultz, Nicole, Cushman, Brandon, DiStefano, Marina T., Azzariti, Danielle, Harrison, Steven M., Rehm, Heidi L., Eilbeck, Karen
Izdano u Hum Mutat (2018)

IL-1 Signaling in Obesity-Induced Hepatic Lipogenesis and Steatosis

od Negrin, Kimberly A., Roth Flach, Rachel J., DiStefano, Marina T., Matevossian, Anouch, Friedline, Randall H., Jung, DaeYoung, Kim, Jason K., Czech, Michael P.
Izdano 2014

Map4k4 impairs energy metabolism in endothelial cells and promotes insulin resistance in obesity

od Roth Flach, Rachel J., DiStefano, Marina T., Danai, Laura V., Senol-Cosar, Ozlem, Yawe, Joseph C., Kelly, Mark, Garcia Menendez, Lorena, Czech, Michael P.
Izdano u Am J Physiol Endocrinol Metab (2017)

Tenomodulin promotes human adipocyte differentiation and beneficial visceral adipose tissue expansion

od Senol-Cosar, Ozlem, Flach, Rachel J. Roth, DiStefano, Marina, Chawla, Anil, Nicoloro, Sarah, Straubhaar, Juerg, Hardy, Olga T., Noh, Hye Lim, Kim, Jason K., Wabitsch, Martin, Scherer, Philipp E., Czech, Michael P.
Izdano u Nat Commun (2016)

Adipocyte-specific Hypoxia-inducible gene 2 promotes fat deposition and diet-induced insulin resistance()

od DiStefano, Marina T., Roth Flach, Rachel J., Senol-Cosar, Ozlem, Danai, Laura V., Virbasius, Joseph V., Nicoloro, Sarah M., Straubhaar, Juerg, Dagdeviren, Sezin, Wabitsch, Martin, Gupta, Olga T., Kim, Jason K., Czech, Michael P.
Izdano u Mol Metab (2016)

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants

od DiStefano, Marina T., Hemphill, Sarah E., Cushman, Brandon J., Bowser, Mark J., Hynes, Elizabeth, Grant, Andrew R., Siegert, Rebecca K., Oza, Andrea M., Gonzalez, Michael A., Amr, Sami S., Rehm, Heidi L., Abou Tayoun, Ahmad N.
Izdano u J Mol Diagn (2018)

Protein Kinase Mitogen-activated Protein Kinase Kinase Kinase Kinase 4 (MAP4K4) Promotes Obesity-induced Hyperinsulinemia

od Roth Flach, Rachel J., Danai, Laura V., DiStefano, Marina T., Kelly, Mark, Menendez, Lorena Garcia, Jurczyk, Agata, Sharma, Rohit B., Jung, Dae Young, Kim, Jong Hun, Kim, Jason K., Bortell, Rita, Alonso, Laura C., Czech, Michael P.
Izdano u J Biol Chem (2016)

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

od DiStefano, Marina T., Hemphill, Sarah E., Oza, Andrea M., Siegert, Rebecca K., Grant, Andrew R., Hughes, Madeline Y., Cushman, Brandon J., Azaiez, Hela, Booth, Kevin T., Chapin, Alex, Duzkale, Hatice, Matsunaga, Tatsuo, Shen, Jun, Zhang, Wenying, Kenna, Margaret, Schimmenti, Lisa A., Tekin, Mustafa, Rehm, Heidi L., Tayoun, Ahmad N. Abou, Amr, Sami S.
Izdano u Genet Med (2019)

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

od Oza, Andrea M., DiStefano, Marina T., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Shen, Jun, Chapin, Alex, Boczek, Nicole J., Schimmenti, Lisa A., Murry, Jaclyn B., Hasadsri, Linda, Nara, Kiyomitsu, Kenna, Margaret, Booth, Kevin T., Azaiez, Hela, Griffith, Andrew, Avraham, Karen B., Kremer, Hannie, Rehm, Heidi L., Amr, Sami S., Tayoun, Ahmad N. Abou
Izdano u Hum Mutat (2018)

ClinVar database of global familial hypercholesterolemia-associated DNA variants

od Iacocca, Michael A., Chora, Joana R., Carrie, Alain, Freiberger, Tomas, Leigh, Sarah E., Defesche, Joep C., Kurtz, C. Lisa, DiStefano, Marina T., Santos, Raul, Humphries, Steve E., Mata, Pedro, Jannes, Cinthia, Hooper, Amanda J., Wilemon, Katherine A., Benlian, Pascale, O’Connor, Robert, Garcia, John, Wand, Hannah, Tichy, Lukas, Sijbrands, Eric J., Hegele, Robert A., Bourbon, Mafalda, Knowles, Joshua W.
Izdano u Hum Mutat (2018)

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

od Strande, Natasha T., Riggs, Erin Rooney, Buchanan, Adam H., Ceyhan-Birsoy, Ozge, DiStefano, Marina, Dwight, Selina S., Goldstein, Jenny, Ghosh, Rajarshi, Seifert, Bryce A., Sneddon, Tam P., Wright, Matt W., Milko, Laura V., Cherry, J. Michael, Giovanni, Monica A., Murray, Michael F., O’Daniel, Julianne M., Ramos, Erin M., Santani, Avni B., Scott, Alan F., Plon, Sharon E., Rehm, Heidi L., Martin, Christa L., Berg, Jonathan S.
Izdano u Am J Hum Genet (2017)

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

od Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Choy, Kwong Wai, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Tayoun, Ahmad N. Abou
Izdano u Genet Med (2019)

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

od DiStefano, Marina T., Goehringer, Scott, Babb, Lawrence, Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Austin-Tse, Christina, Balzotti, Marie, Berg, Jonathan S., Birney, Ewan, Bocchini, Carol, Bruford, Elspeth A., Coffey, Alison J., Collins, Heather, Cunningham, Fiona, Daugherty, Louise C., Einhorn, Yaron, Firth, Helen V., Fitzpatrick, David R., Foulger, Rebecca E., Goldstein, Jennifer, Hamosh, Ada, Hurles, Matthew R., Leigh, Sarah E., Leong, Ivone US., Maddirevula, Sateesh, Martin, Christa L., McDonagh, Ellen M., Olry, Annie, Puzriakova, Arina, Radtke, Kelly, Ramos, Erin M., Rath, Ana, Riggs, Erin Rooney, Roberts, Angharad M., Rodwell, Charlotte, Snow, Catherine, Stark, Zornitza, Tahiliani, Jackie, Tweedie, Susan, Ware, James S., Weller, Phillip, Williams, Eleanor, Wright, Caroline F., Yates, T Michael., Rehm, Heidi L.
Izdano u Genet Med (2022)