Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion von Abou Tayoun, Ahmad N., Pesaran, Tina, DiStefano, Marina T., Oza, Andrea, Rehm, Heidi L., Biesecker, Leslie G., Harrison, Steven M.

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Material footprint and import dependency in EU27: Past trends and future challenges von Distefano, T., Lodi, L., Biggeri, M.

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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss von 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., Abou Tayoun, Ahmad N.

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IL-1 signaling in obesity-induced hepatic lipogenesis and steatosis von Negrin, Kimberly A, Roth Flach, Rachel J, DiStefano, Marina T, Matevossian, Anouch, Friedline, Randall H, Jung, DaeYoung, Kim, Jason K, Czech, Michael P

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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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Crosslinker concentration controls TGFβ-3 release and annulus fibrosus cell apoptosis in genipin-crosslinked fibrin hydrogels von Panebianco, C J, DiStefano, T J, Mui, B, Hom, W W, Iatridis, J C

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Systemic risk in the global water input-output network von Distefano, T., Riccaboni, M., Marin, G.

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ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs von 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.

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Coupling environmental transition and social prosperity: a scenario-analysis of the Italian case von Cieplinski, A., D’Alessandro, S., Distefano, T., Guarnieri, P.

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Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification von Thaxton, Courtney, Good, Molly E., DiStefano, Marina T., Luo, Xi, Andersen, Erica F., Thorland, Erik, Berg, Jonathan, Martin, Christa Lese, Rehm, Heidi L., Riggs, Erin R.

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

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ClinVar Miner: Demonstrating utility of a Web‐based tool for viewing and filtering ClinVar data von Henrie, Alex, Hemphill, Sarah E., Ruiz‐Schultz, Nicole, Cushman, Brandon, DiStefano, Marina T., Azzariti, Danielle, Harrison, Steven M., Rehm, Heidi L., Eilbeck, Karen

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Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification von Thaxton, Courtney, Good, Molly E., DiStefano, Marina T., Luo, Xi, Andersen, Erica F., Thorland, Erik, Berg, Jonathan, Martin, Christa Lese, Rehm, Heidi L., Riggs, Erin R.

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The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources von 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 U.S., 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, Thabo Michael, Rehm, Heidi L.

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A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement von Niehaus, Annie, Azzariti, Danielle R., Harrison, Steven M., DiStefano, Marina T., Hemphill, Sarah E., Senol-Cosar, Ozlem, Rehm, Heidi L.

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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel von 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, Wai Choy, Kwong, 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., Abou Tayoun, Ahmad N.

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The Emerging Role of Long Noncoding RNAs in Human Disease von DiStefano, Johanna K.

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The Lipid Droplet Protein Hypoxia-inducible Gene 2 Promotes Hepatic Triglyceride Deposition by Inhibiting Lipolysis von DiStefano, Marina T., Danai, Laura V., Roth Flach, Rachel J., Chawla, Anil, Pedersen, David J., Guilherme, Adilson, Czech, Michael P.

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MiSeq: A Next Generation Sequencing Platform for Genomic Analysis von Ravi, Rupesh Kanchi, Walton, Kendra, Khosroheidari, Mahdieh

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Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and d... von Roberts, Angharad M., DiStefano, Marina T., Riggs, Erin Rooney, Josephs, Katherine S., Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Berg, Jonathan S., Cunningham, Fiona, Eilbeck, Karen, Firth, Helen V., Foreman, Julia, Hamosh, Ada, Hay, Eleanor, Leigh, Sarah, Martin, Christa L., McDonagh, Ellen M., Perrett, Daniel, Ramos, Erin M., Robinson, Peter N., Rath, Ana, Sant, David W., Stark, Zornitza, Whiffin, Nicola, Rehm, Heidi L., Ware, James S.

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