Search Results - "Gordana, Raca"

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) 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

“…Purpose Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with…”
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Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG) by del Gaudio, Daniela, Shinawi, Marwan, Astbury, Caroline, Tayeh, Marwan K., Deak, Kristen L., Raca, Gordana

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Response to Mounts and Besser by Raca, Gordana, Shinawi, Marwan, Gaudio, Daniela del

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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.

“…Precision oncology relies on accurate discovery and interpretation of genomic variants, enabling individualized diagnosis, prognosis and therapy selection. We…”
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Recommendations for future extensions to the HGNC gene fusion nomenclature by Wagner, Alex H., Akkari, Yassmine, Li, Marilyn, Roy, Angshumoy, Tsuchiya, Karen, Raca, Gordana

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Increased Incidence of IKZF1 deletions and IGH-CRLF2 translocations in B-ALL of Hispanic/Latino children—a novel health disparity by Raca, Gordana, Abdel-Azim, Hisham, Yue, Feng, Broach, James, Payne, Jonathon L., Reeves, Mark E., Gowda, Chandrika, Schramm, Joseph, Desai, Dhimant, Dovat, Elanora, Hu, Tommy, Berg, Arthur S., Bhojwani, Deepa, Payne, Kimberly J., Dovat, Sinisa

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Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) 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

“…A Correction to this paper has been published: https://doi.org/10.1038/s41436-021-01150-9…”
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Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review by Alturkustani, Murad, Schmidt, Ryan, Gayer, Christopher, Warren, Mikako, Navid, Fariba, Raca, Gordana, Biegel, Jaclyn A., Pawel, Bruce, Zhou, Shengmei

“…Malignant rhabdoid tumor (MRT) is a rare, SWItch/sucrose nonfermentable-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1…”
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Pediatric Metastatic Hepatoblastoma With an ARID1A Mutation and Rhabdoid Cells by Alturkustani, Murad, Gallant, Rachel, Raca, Gordana, Ranganathan, Sarangarajan, Mahabir, Roshan, Biegel, Jaclyn A., Mascarenhas, Leo, Moke, Diana, Szymanski, Linda J.

“…The small cell undifferentiated component of hepatoblastoma is an uncommon histologic component and is distinguished from small cell undifferentiated like…”
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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC) by Horak, Peter, Griffith, Malachi, Danos, Arpad M., Pitel, Beth A., Madhavan, Subha, Liu, Xuelu, Chow, Cynthia, Williams, Heather, Carmody, Leigh, Barrow-Laing, Lisa, Rieke, Damian, Kreutzfeldt, Simon, Stenzinger, Albrecht, Tamborero, David, Benary, Manuela, Rajagopal, Padma Sheila, Ida, Cristiane M., Lesmana, Harry, Satgunaseelan, Laveniya, Merker, Jason D., Tolstorukov, Michael Y., Campregher, Paulo Vidal, Warner, Jeremy L., Rao, Shruti, Natesan, Maya, Shen, Haolin, Venstrom, Jeffrey, Roy, Somak, Tao, Kayoko, Kanagal-Shamanna, Rashmi, Xu, Xinjie, Ritter, Deborah I., Pagel, Kym, Krysiak, Kilannin, Dubuc, Adrian, Akkari, Yassmine M., Li, Xuan Shirley, Lee, Jennifer, King, Ian, Raca, Gordana, Wagner, Alex H., Li, Marylin M., Plon, Sharon E., Kulkarni, Shashikant, Griffith, Obi L., Chakravarty, Debyani, Sonkin, Dmitriy

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Response to Maya et al by Riggs, Erin Rooney, Andersen, Erica F., 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

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Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies by Drazer, Michael W., Kadri, Sabah, Sukhanova, Madina, Patil, Sushant A., West, Allison H., Feurstein, Simone, Calderon, Dalein A., Jones, Matthew F., Weipert, Caroline M., Daugherty, Christopher K., Ceballos-López, Adrián A., Raca, Gordana, Lingen, Mark W., Li, Zejuan, Segal, Jeremy P., Churpek, Jane E., Godley, Lucy A.

“…Next-generation sequencing (NGS)–based targeted gene capture panels are used to profile hematopoietic malignancies to guide prognostication and treatment…”
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A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants by Ji, Jianling, Shen, Lishuang, Bootwalla, Moiz, Quindipan, Catherine, Tatarinova, Tatiana, Maglinte, Dennis T, Buckley, Jonathan, Raca, Gordana, Saitta, Sulagna C, Biegel, Jaclyn A, Gai, Xiaowu

“…Advancing the clinical utility of whole-exome sequencing (WES) for patients with suspected genetic disorders is largely driven by bioinformatics approaches…”
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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.

“…Harmonization of cancer variant representation, efficient communication, and free distribution of clinical variant‐associated knowledge are central problems…”
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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

“…Manually curated variant knowledgebases and their associated knowledge models are serving an increasingly important role in distributing and interpreting…”
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Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization by Laffin, Jennifer J.S., Raca, Gordana, Jackson, Craig A., Strand, Edythe A., Jakielski, Kathy J., Shriberg, Lawrence D.

“…Purpose: The goal of this study was to identify new candidate genes and genomic copy-number variations associated with a rare, severe, and persistent speech…”
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Analytic Validation of Optical Genome Mapping in Hematological Malignancies by Pang, Andy W C, Kosco, Karena, Sahajpal, Nikhil S, Sridhar, Arthi, Hauenstein, Jen, Clifford, Benjamin, Estabrook, Joey, Chitsazan, Alex D, Sahoo, Trilochan, Iqbal, Anwar, Kolhe, Ravindra, Raca, Gordana, Hastie, Alex R, Chaubey, Alka

“…Structural variations (SVs) play a key role in the pathogenicity of hematological malignancies. Standard-of-care (SOC) methods such as karyotyping and…”
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P079: ClinGen Somatic and CIViC collaborate to comprehensively evaluate somatic variants in cancer by Saliba, Jason, Danos, Arpad, Krysiak, Kilannin, Coffman, Adam, Kiwala, Susanna, McMichael, Joshua, Grisdale, Cameron, King, Ian, Selvarajah, Shamini, Xu, Xinjie, Kanagal-Shamanna, Rashmi, Satgunaseelan, Laveniya, Meredith, David, Evans, Mark, Mullighan, Charles, Akkari, Yassmine, Raca, Gordana, Roy, Angshumoy, Wagner, Alex, Govindan, Ramaswamy, Griffith, Obi, Griffith, Malachi

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RCSD1-ABL1 Translocation Associated with IKZF1 Gene Deletion in B-Cell Acute Lymphoblastic Leukemia by Kamran, Shawana, Nazir, Kamran, Raca, Gordana

“…The RCSD1 gene has recently been identified as a novel gene fusion partner of the ABL1 gene in cases of B-cell Acute Lymphoblastic Leukemia (B-ALL). The RCSD1…”
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MYC Amplification in Angiosarcoma Arising from an Arteriovenous Graft Site by Paral, Kristen M., Krausz, Thomas, Raca, Gordana

“…Angiosarcoma arising in association with an arteriovenous graft (AVG) or fistula is a unique clinicopathologic scenario that appears to be gaining recognition…”
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