Transcriptional Enhancers in Protein-Coding Exons of Vertebrate Developmental Genes

Por Ritter, Deborah I., Dong, Zhiqiang, Guo, Su, Chuang, Jeffrey H.
Publicado em 2012

The Importance of Being Cis: Evolution of Orthologous Fish and Mammalian Enhancer Activity

Por Ritter, Deborah I., Li, Qiang, Kostka, Dennis, Pollard, Katherine S., Guo, Su, Chuang, Jeffrey H.
Publicado em 2010

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)

Por Ritter, Deborah I., Rao, Shruti, Kulkarni, Shashikant, Madhavan, Subha, Offit, Kenneth, Plon, Sharon E.
Publicado no Cold Spring Harb Mol Case Stud (2019)

cneViewer: a database of conserved non-coding elements for studies of tissue-specific gene regulation

Por Persampieri, Jason, Ritter, Deborah I., Lees, Daniel, Lehoczky, Jessica, Li, Qiang, Guo, Su, Chuang, Jeffrey H.
Publicado em 2008

Identifying Gene Disruptions in Novel Balanced de novo Constitutional Translocations in Childhood Cancer Patients by Whole Genome Sequencing

Por Ritter, Deborah I., Haines, Katherine, Cheung, Hannah, Davis, Caleb F., Lau, Ching C., Berg, Jonathan S., Brown, Chester W., Thompson, Patrick A., Gibbs, Richard, Wheeler, David A., Plon, Sharon E.
Publicado no Genet Med (2015)

Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs

Por Saliba, Jason, Zabriskie, Ryan, Ghosh, Rajarshi, Powell, Bradford C, Hicks, Stephanie, Kimmel, Marek, Meng, Qingchang, Ritter, Deborah I, Wheeler, David A, Gibbs, Richard A, Tsai, Francis T F, Plon, Sharon E
Publicado no Pharmacogenet Genomics (2016)

Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge...

Por Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese
Publicado no Genet Med (2019)

Clinical Validity Assessment of Genes Frequently Tested on Hereditary Breast and Ovarian Cancer Susceptibility Sequencing Panels

Por Lee, Kristy, Seifert, Bryce A., Shimelis, Hermela, Ghosh, Rajarshi, Crowley, Stephanie B., Carter, Natalie J., Doonanco, Kurston, Foreman, A. Katherine, Ritter, Deborah I., Jimenez, Sharisse, Trapp, Mackenzie, Offit, Kenneth, Plon, Sharon E., Couch, Fergus J.
Publicado no Genet Med (2018)

SV-STAT accurately detects structural variation via alignment to reference-based assemblies

Por Davis, Caleb F., Ritter, Deborah I., Wheeler, David A., Wang, Hongmei, Ding, Yan, Dugan, Shannon P., Bainbridge, Matthew N., Muzny, Donna M., Rao, Pulivarthi H., Man, Tsz-Kwong, Plon, Sharon E., Gibbs, Richard A., Lau, Ching C.
Publicado no Source Code Biol Med (2016)

“The Clinical Imperative for Inclusivity: Race, Ethnicity, and Ancestry (REA) in Genomics”

Por Popejoy, Alice B., Ritter, Deborah I., Crooks, Kristy, Currey, Erin, Fullerton, Stephanie M., Hindorff, Lucia A., Koenig, Barbara, Ramos, Erin M., Sorokin, Elena P., Wand, Hannah, Wright, Mathew W., Zou, James, Gignoux, Christopher R., Bonham, Vence L., Plon, Sharon E., Bustamante, Carlos D.
Publicado no Hum Mutat (2018)

Integrating Somatic Variant Data and Biomarkers for Germline Variant Classification in Cancer Predisposition Genes

Por Walsh, Michael F., Ritter, Deborah I., Kesserwan, Chimene, Sonkin, Dmitriy, Chakravarty, Debyani, Chao, Elizabeth, Ghosh, Rajarshi, Kemel, Yelena, Wu, Gang, Lee, Kristy, Kulkarni, Shashi, Hedges, Dale, Mandelker, Diana, Ceyhan-Birsoy, Ozge, Luo, Minjie, Drazer, Michael, Zhang, Liying, Offit, Kenneth, Plon, Sharon E.
Publicado no Hum Mutat (2018)

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

Por Seifert, Bryce A., McGlaughon, Jennifer L., Jackson, Sarah A., Ritter, Deborah I, Roberts, Maegan E., Schmidt, Ryan J., Thompson, Bryony A., Jimenez, Sharisse, Trapp, Mackenzie, Lee, Kristy, Plon, Sharon E., Offit, Kenneth, Stadler, Zsofia K., Zhang, Liying, Greenblatt, Marc S., Ferber, Matthew J.
Publicado no Genet Med (2018)

Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures

Por Popejoy, Alice B., Crooks, Kristy R., Fullerton, Stephanie M., Hindorff, Lucia A., Hooker, Gillian W., Koenig, Barbara A., Pino, Natalie, Ramos, Erin M., Ritter, Deborah I., Wand, Hannah, Wright, Matt W., Yudell, Michael, Zou, James Y., Plon, Sharon E., Bustamante, Carlos D., Ormond, Kelly E.
Publicado no Am J Hum Genet (2020)

Somatic cancer variant curation and harmonization through consensus minimum variant level data

Por Ritter, Deborah I., Roychowdhury, Sameek, Roy, Angshumoy, Rao, Shruti, Landrum, Melissa J., Sonkin, Dmitriy, Shekar, Mamatha, Davis, Caleb F., Hart, Reece K., Micheel, Christine, Weaver, Meredith, Van Allen, Eliezer M., Parsons, Donald W., McLeod, Howard L., Watson, Michael S., Plon, Sharon E., Kulkarni, Shashikant, Madhavan, Subha
Publicado no Genome Med (2016)

Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community‐driven standards

Por Danos, Arpad M., Ritter, Deborah I., Wagner, Alex H., Krysiak, Kilannin, Sonkin, Dmitriy, Micheel, Christine, McCoy, Matthew, Rao, Shruti, Raca, Gordana, Boca, Simina M., Roy, Angshumoy, Barnell, Erica K., McMichael, Joshua F., Kiwala, Susanna, Coffman, Adam C., Kujan, Lynzey, Kulkarni, Shashikant, Griffith, Malachi, Madhavan, Subha, Griffith, Obi L.
Publicado no Hum Mutat (2018)

Standard operating procedure for curation and clinical interpretation of variants in cancer

Por Danos, Arpad M., Krysiak, Kilannin, Barnell, Erica K., Coffman, Adam C., McMichael, Joshua F., Kiwala, Susanna, Spies, Nicholas C., Sheta, Lana M., Pema, Shahil P., Kujan, Lynzey, Clark, Kaitlin A., Wollam, Amber Z., Rao, Shruti, Ritter, Deborah I., Sonkin, Dmitriy, Raca, Gordana, Lin, Wan-Hsin, Grisdale, Cameron J., Kim, Raymond H., Wagner, Alex H., Madhavan, Subha, Griffith, Malachi, Griffith, Obi L.
Publicado no Genome Med (2019)

Assessing structural variation in a personal genome—towards a human reference diploid genome

Por English, Adam C, Salerno, William J, Hampton, Oliver A, Gonzaga-Jauregui, Claudia, Ambreth, Shruthi, Ritter, Deborah I, Beck, Christine R, Davis, Caleb F, Dahdouli, Mahmoud, Ma, Singer, Carroll, Andrew, Veeraraghavan, Narayanan, Bruestle, Jeremy, Drees, Becky, Hastie, Alex, Lam, Ernest T, White, Simon, Mishra, Pamela, Wang, Min, Han, Yi, Zhang, Feng, Stankiewicz, Pawel, Wheeler, David A, Reid, Jeffrey G, Muzny, Donna M, Rogers, Jeffrey, Sabo, Aniko, Worley, Kim C, Lupski, James R, Boerwinkle, Eric, Gibbs, Richard A
Publicado no BMC Genomics (2015)

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Por van der Crabben, Saskia N., Hennus, Marije P., McGregor, Grant A., Ritter, Deborah I., Nagamani, Sandesh C.S., Wells, Owen S., Harakalova, Magdalena, Chinn, Ivan K., Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M., Terheggen-Lagro, Suzanne W., van Lieshout, Stef, van Roosmalen, Markus J., Renkens, Ivo, Duran, Karen, Nijman, Isaac J., Kloosterman, Wigard P., Hennekam, Eric, Orange, Jordan S., van Hasselt, Peter M., Wheeler, David A., Palecek, Jan J., Lehmann, Alan R., Oliver, Antony W., Pearl, Laurence H., Plon, Sharon E., Murray, Johanne M., van Haaften, Gijs
Publicado no J Clin Invest (2016)

A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

Por Wagner, Alex H., Walsh, Brian, Mayfield, Georgia, Tamborero, David, Sonkin, Dmitriy, Krysiak, Kilannin, Deu-Pons, Jordi, Duren, Ryan P., Gao, Jianjiong, McMurry, Julie, Patterson, Sara, del Vecchio Fitz, Catherine, Pitel, Beth A., Sezerman, Ozman U., Ellrott, Kyle, Warner, Jeremy L., Rieke, Damian T., Aittokallio, Tero, Cerami, Ethan, Ritter, Deborah I., Schriml, Lynn M., Freimuth, Robert R., Haendel, Melissa, Raca, Gordana, Madhavan, Subha, Baudis, Michael, Beckmann, Jacques S., Dienstmann, Rodrigo, Chakravarty, Debyani, Li, Xuan Shirley, Mockus, Susan, Elemento, Olivier, Schultz, Nikolaus, Lopez-Bigas, Nuria, Lawler, Mark, Goecks, Jeremy, Griffith, Malachi, Griffith, Obi L., Margolin, Adam A.
Publicado no Nat Genet (2020)

Pathogenic germline variants in 10,389 adult cancers

Por Huang, Kuan-lin, Mashl, R. Jay, Wu, Yige, Ritter, Deborah I., Wang, Jiayin, Oh, Clara, Paczkowska, Marta, Reynolds, Sheila, Wyczalkowski, Matthew A., Oak, Ninad, Scott, Adam D., Krassowski, Michal, Cherniack, Andrew D., Houlahan, Kathleen E., Jayasinghe, Reyka, Wang, Liang-Bo, Zhou, Daniel Cui, Liu, Di, Cao, Song, Kim, Young Won, Koire, Amanda, McMichael, Joshua F., Hucthagowder, Vishwanathan, Kim, Tae-Beom, Hahn, Abigail, Wang, Chen, McLellan, Michael D., Al-Mulla, Fahd, Johnson, Kimberly J., Lichtarge, Olivier, Boutros, Paul C., Raphael, Benjamin, Lazar, Alexander J., Zhang, Wei, Wendl, Michael C., Govindan, Ramaswamy, Jain, Sanjay, Wheeler, David, Kulkarni, Shashikant, Dipersio, John F., Reimand, Jüri, Meric-Bernstam, Funda, Chen, Ken, Shmulevich, Ilya, Plon, Sharon E., Chen, Feng, Ding, Li
Publicado no Cell (2018)