Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
Susswein, Lisa R., Marshall, Megan L., Nusbaum, Rachel, Vogel Postula, Kristen J., Weissman, Scott M., Yackowski, Lauren, Vaccari, Erica M., Bissonnette, Jeffrey, Booker, Jessica K., Cremona, M. Laura, Gibellini, Federica, Murphy, Patricia D., Pineda-Alvarez, Daniel E., Pollevick, Guido D., Xu, Zhixiong, Richard, Gabi, Bale, Sherri, Klein, Rachel T., Hruska, Kathleen S., Chung, Wendy K.
Published in Genetics in medicine (01.08.2016)
Published in Genetics in medicine (01.08.2016)
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Journal Article
Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases
Chunn, Lauren M, Bissonnette, Jeffrey, Heinrich, Stefanie V, Mercurio, Stephanie A, Kiel, Mark J, Rutsch, Frank, Ferreira, Carlos R
Published in Orphanet journal of rare diseases (02.12.2022)
Published in Orphanet journal of rare diseases (02.12.2022)
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Journal Article
P250: Clarification of variant reporting for homologous genes resolved through systematic literature review: ACMG SF genes CALM1, CALM2, and CALM3
Curry, Kathryn, Syverud, Natalie, McGill, Anna, Bissonnette, Jeffrey, Beckwell, Jane, Wiley, Elizabeth, Kiel, Mark
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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O33: Comprehensive identification of gene-disease relationships across the clinical exome through systematic literature review and parallelized evidence curation
Kiel, Mark, Bissonnette, Jeffrey, Hrelja, Emir, Tica-Spahic, Mirela, Arapcic-Granic, Menara, Brkic, Elma, Cajo, Selma, Cehic, Ilma, Cickusic, Azra, Corbic, Anida, Cviko-Nalbantic, Mirnesa, Duranovic, Ismet, Dzibric, Senada, Farmer, Jessica, Fatic, Selma, Gajic, Almina, Hafizovic, Lamija, Hasanagic, Dino, Haskovic, Aldina, Karic, Adna, Kerawala, Rhea, Lakota, Elma, Lepara-Dervisevic, Zerina, Lokvancic, Haris, Mujkic, Lejla, Muratovic, Selma, Mutapcic, Belma, Plecas, Anita, Selimovic, Selma, Syverud, Natalie, Toman, Ena, Zoranovic, Amila
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
Fortuno, Cristina, Lee, Kristy, Olivier, Magali, Pesaran, Tina, Mai, Phuong L., Andrade, Kelvin C., Attardi, Laura D., Crowley, Stephanie, Evans, D. Gareth, Feng, Bing‐Jian, Foreman, Ann K. M., Frone, Megan N., Huether, Robert, James, Paul A., McGoldrick, Kelly, Mester, Jessica, Seifert, Bryce A., Slavin, Thomas P., Witkowski, Leora, Zhang, Liying, Plon, Sharon E., Spurdle, Amanda B., Savage, Sharon A.
Published in Human mutation (01.03.2021)
Published in Human mutation (01.03.2021)
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Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing
Mester, Jessica L., Jackson, Sarah A., Postula, Kristen, Stettner, Amy, Solomon, Sheila, Bissonnette, Jeffrey, Murphy, Patricia D., Klein, Rachel T., Hruska, Kathleen S.
Published in The Journal of molecular diagnostics : JMD (01.03.2020)
Published in The Journal of molecular diagnostics : JMD (01.03.2020)
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Development of a Center for Personalized Cancer Care at a Regional Cancer Center: Feasibility Trial of an Institutional Tumor Sequencing Advisory Board
Lane, Brian R, Bissonnette, Jeffrey, Waldherr, Tracy, Ritz-Holland, Deborah, Chesla, Dave, Cottingham, Sandra L, Alberta, Sheryl, Liu, Cong, Thompson, Amanda B, Graveel, Carrie, MacKeigan, Jeffrey P, Noyes, Sabrina L, Smith, Judy, Lakhani, Nehal, Steensma, Matthew R
Published in The Journal of molecular diagnostics : JMD (01.11.2015)
Published in The Journal of molecular diagnostics : JMD (01.11.2015)
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Journal Article
Development of a Center for Personalized Cancer Care at a Regional Cancer Center
Lane, Brian R, Bissonnette, Jeffrey, Waldherr, Tracy, Ritz-Holland, Deborah, Chesla, Dave, Cottingham, Sandra L, Alberta, Sheryl, Liu, Cong, Thompson, Amanda B, Graveel, Carrie, MacKeigan, Jeffrey P, Noyes, Sabrina L, Smith, Judy, Lakhani, Nehal, Steensma, Matthew R
Published in The Journal of molecular diagnostics : JMD (01.11.2015)
Published in The Journal of molecular diagnostics : JMD (01.11.2015)
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Journal Article