Search Results - "DiStefano, Marina T"

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

“…The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence…”
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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss by 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.

“…Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes sequencing large numbers of genes, which often yields a…”
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IL-1 signaling in obesity-induced hepatic lipogenesis and steatosis by Negrin, Kimberly A, Roth Flach, Rachel J, DiStefano, Marina T, Matevossian, Anouch, Friedline, Randall H, Jung, DaeYoung, Kim, Jason K, Czech, Michael P

“…Non-alcoholic fatty liver disease is prevalent in human obesity and type 2 diabetes, and is characterized by increases in both hepatic triglyceride…”
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ClinVar database of global familial hypercholesterolemia‐associated DNA variants by 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.

“…Accurate and consistent variant classification is imperative for incorporation of rapidly developing sequencing technologies into genomic medicine for improved…”
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ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs by 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.

“…Purpose Proper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental…”
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Adipocyte-specific Hypoxia-inducible gene 2 promotes fat deposition and diet-induced insulin resistance by 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

“…Abstract Objective Adipose tissue relies on lipid droplet (LD) proteins in its role as a lipid-storing endocrine organ that controls whole body metabolism…”
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ClinVar Miner: Demonstrating utility of a Web‐based tool for viewing and filtering ClinVar data by Henrie, Alex, Hemphill, Sarah E., Ruiz‐Schultz, Nicole, Cushman, Brandon, DiStefano, Marina T., Azzariti, Danielle, Harrison, Steven M., Rehm, Heidi L., Eilbeck, Karen

“…ClinVar Miner is a Web‐based suite that utilizes the data held in the National Center for Biotechnology Information's ClinVar archive. The goal is to render…”
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The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources by 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.

“…Several groups and resources provide information that pertains to the validity of gene–disease relationships used in genomic medicine and research; however,…”
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Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification by 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.

“…Understanding whether there is enough evidence to implicate a gene's role in a given disease, as well as the mechanisms by which variants in this gene might…”
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A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement by Niehaus, Annie, Azzariti, Danielle R., Harrison, Steven M., DiStefano, Marina T., Hemphill, Sarah E., Senol-Cosar, Ozlem, Rehm, Heidi L.

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

“…The liver is a major site of glucose, fatty acid, and triglyceride (TG) synthesis and serves as a major regulator of whole body nutrient homeostasis. Chronic…”
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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel by 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.

“…Purpose Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and…”
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Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms by 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.

“…The terminology used for gene-disease curation and variant annotation to describe inheritance, allelic requirement, and both sequence and functional…”
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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss by Patel, Mayher J., DiStefano, Marina T., Oza, Andrea M., Hughes, Madeline Y., Wilcox, Emma H., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Shen, Jun, Chapin, Alex, Boczek, Nicole J., Schimmenti, Lisa A., Nara, Kiyomitsu, Kenna, Margaret, Azaiez, Hela, Booth, Kevin T., Avraham, Karen B., Kremer, Hannie, Griffith, Andrew J., Rehm, Heidi L., Amr, Sami S., Tayoun, Ahmad N. Abou

“…Purpose The ClinGen Variant Curation Expert Panels (VCEPs) provide disease-specific rules for accurate variant interpretation. Using the hearing loss-specific…”
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Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants by 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.

“…Variant interpretation depends on accurate annotations using biologically relevant transcripts. We have developed a systematic strategy for designating primary…”
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Map4k4 impairs energy metabolism in endothelial cells and promotes insulin resistance in obesity by Roth Flach, Rachel J, DiStefano, Marina T, Danai, Laura V, Senol-Cosar, Ozlem, Yawe, Joseph C, Kelly, Mark, Garcia Menendez, Lorena, Czech, Michael P

“…The blood vasculature responds to insulin, influencing hemodynamic changes in the periphery, which promotes tissue nutrient and oxygen delivery and thus…”
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Protein Kinase Mitogen-activated Protein Kinase Kinase Kinase Kinase 4 (MAP4K4) Promotes Obesity-induced Hyperinsulinemia by 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.

“…Previous studies revealed a paradox whereby mitogen-activated protein kinase kinase kinase kinase 4 (Map4k4) acted as a negative regulator of insulin…”
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Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms by Wright, Matt W, Thaxton, Courtney L, Nelson, Tristan, DiStefano, Marina T, Savatt, Juliann M, Brush, Matthew H, Cheung, Gloria, Mandell, Mark E, Wulf, Bryan, Ward, TJ, Goehringer, Scott, O'Neill, Terry, Weller, Phil, Preston, Christine G, Keseler, Ingrid M, Goldstein, Jennifer L, Strande, Natasha T, McGlaughon, Jennifer, Azzariti, Danielle R, Cordova, Ineke, Dziadzio, Hannah, Babb, Lawrence, Riehle, Kevin, Milosavljevic, Aleksandar, Martin, Christa Lese, Rehm, Heidi L, Plon, Sharon E, Berg, Jonathan S, Riggs, Erin R, Klein, Teri E

“…Clinical genetic laboratories must have access to clinically validated biomedical data for precision medicine. A lack of accessibility, normalized structure,…”
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Correction: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs by 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.

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation by Andersen, Erica F., Azzariti, Danielle R., Babb, Larry, Berg, Jonathan S., Biesecker, Leslie G., Bly, Zo, Buchanan, Adam H., DiStefano, Marina T., Gong, Li, Harrison, Steven M., Hunter, Jessica Ezzell, Kattman, Brandi, Klein, Teri E., Landrum, Melissa J., Manickam, Kandamurugu, Marroquin, Alessandra Serrano, Martin, Christa L., Milko, Laura V., Milosavljevic, Aleksandar, Morales, Joannella, Nelson, Tristan H., Plon, Sharon E., Powell, Bradford C., Ramos, Erin M., Rehm, Heidi L., Riggs, Erin R., Ritter, Deborah, Shah, Neethu, Thaxton, Courtney L., Thorland, Erik C., Weaver, Meredith A., Weller, Phillip L., Wright, Matt W.

“…The Clinical Genome Resource (ClinGen) is a National Institutes of Health-funded program founded 10 years ago that defines the clinical relevance of genes and…”
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