Transcriptional Enhancers in Protein-Coding Exons of Vertebrate Developmental Genes

by Ritter, Deborah I., Dong, Zhiqiang, Guo, Su, Chuang, Jeffrey H.
Published 2012

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

by Ritter, Deborah I., Li, Qiang, Kostka, Dennis, Pollard, Katherine S., Guo, Su, Chuang, Jeffrey H.
Published 2010

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

by Ritter, Deborah I., Rao, Shruti, Kulkarni, Shashikant, Madhavan, Subha, Offit, Kenneth, Plon, Sharon E.
Published in Cold Spring Harb Mol Case Stud (2019)

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

by Persampieri, Jason, Ritter, Deborah I., Lees, Daniel, Lehoczky, Jessica, Li, Qiang, Guo, Su, Chuang, Jeffrey H.
Published 2008

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

by 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.
Published in Genet Med (2015)

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

by 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
Published in 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...

by 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
Published in Genet Med (2019)

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

by 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.
Published in Genet Med (2018)

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

by 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.
Published in Source Code Biol Med (2016)

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

by 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.
Published in Hum Mutat (2018)

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

by 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.
Published in Hum Mutat (2018)

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

by 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.
Published in Genet Med (2018)

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

by 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.
Published in Am J Hum Genet (2020)

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

by 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
Published in Genome Med (2016)

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

by 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.
Published in Hum Mutat (2018)

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

by 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.
Published in Genome Med (2019)

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

by 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
Published in BMC Genomics (2015)

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

by 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
Published in J Clin Invest (2016)

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

by 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.
Published in Nat Genet (2020)

Pathogenic germline variants in 10,389 adult cancers

by 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
Published in Cell (2018)