Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Brnich, Sarah E, Abou Tayoun, Ahmad N, Couch, Fergus J, Cutting, Garry R, Greenblatt, Marc S, Heinen, Christopher D, Kanavy, Dona M, Luo, Xi, McNulty, Shannon M, Starita, Lea M, Tavtigian, Sean V, Wright, Matt W, Harrison, Steven M, Biesecker, Leslie G, Berg, Jonathan S
Published in Genome medicine (31.12.2019)
Published in Genome medicine (31.12.2019)
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Journal Article
P695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease
Kanavy, Dona, Goldstein, Jenny, Pinto e Vairo, Filippo, Bali, Deeksha, Chen-Deutsch, Xiangwen, Donti, Taraka, Goomber, Shelly, McGlaughon, Jennifer, Pan, Yinghong, Seifert, Bryce, Fernandez, Raquel, Kyle, Emily, Weaver, Meredith, Clarke, Lorne, Rehder, Catherine
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Comparative Genome Analysis of Ciprofloxacin-Resistant Pseudomonas aeruginosa Reveals Genes Within Newly Identified High Variability Regions Associated With Drug Resistance Development
Su, Hsun-Cheng, Khatun, Jainab, Kanavy, Dona M., Giddings, Morgan C.
Published in Microbial drug resistance (Larchmont, N.Y.) (01.12.2013)
Published in Microbial drug resistance (Larchmont, N.Y.) (01.12.2013)
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Is It Time for Synthetic Biodiversity Conservation?
Piaggio, Antoinette J., Segelbacher, Gernot, Seddon, Philip J., Alphey, Luke, Bennett, Elizabeth L., Carlson, Robert H., Friedman, Robert M., Kanavy, Dona, Phelan, Ryan, Redford, Kent H., Rosales, Marina, Slobodian, Lydia, Wheeler, Keith
Published in Trends in ecology & evolution (Amsterdam) (01.02.2017)
Published in Trends in ecology & evolution (Amsterdam) (01.02.2017)
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Developing gene drive technologies to eradicate invasive rodents from islands
Leitschuh, Caroline M., Kanavy, Dona, Backus, Gregory A., Valdez, Rene X., Serr, Megan, Pitts, Elizabeth A., Threadgill, David, Godwin, John
Published in Journal of responsible innovation (24.01.2018)
Published in Journal of responsible innovation (24.01.2018)
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Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience
Groopman, Emily, Goldstein, Jenny, Dickson, Alexa, Zastrow, Diane, Mohan, Shruthi, Thomas-Wilson, Amanda, Caldovic, Ljubica, Kyle, Emily, Yuzyuk, Tatiana, De Biase, Irene, Simpson, Kara, Kanavy, Dona, Spector, Elaine, Pasquali, Marzia, Rehder, Catherine, Stergachis, Andrew, Whirl-Carlo, Michelle, Baudet, Heather, Hung, Christina, Braverman, Nancy E., Mercimek-Andrews, Saadet, Weaver, Meredith, Craigen, William, Mao, Rong
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
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Journal Article
eP393 - Development of a data model and programmatic tooling for annotation of functional assay evidence used in sequence variant interpretation
McNulty, Shannon, Kanavy, Dona, Jairath, Meera, Thaxton, Courtney, Ward, Jack, Iacocca, Michael, Pineda, Arturo Lopez, Madhavrao, Rao, Subramanian, Sai Lakshmi, Wright, Matt, Powell, Bradford
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Development of a data model and programmatic tooling for annotation of functional assay evidence used in sequence variant interpretation
McNulty, Shannon, Kanavy, Dona, Jairath, Meera, Thaxton, Courtney, Ward, Jack, Iacocca, Michael, Pineda, Arturo Lopez, Madhavrao, Rao, Subramanian, Sai Lakshmi, Wright, Matt, Powell, Bradford
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Variant classification for Pompe disease; ACMG/AMP specifications from the ClinGen lysosomal diseases variant curation expert panel
Goldstein, Jennifer L., McGlaughon, Jennifer, Kanavy, Dona, Goomber, Shelly, Pan, Yinghong, Deml, Brett, Donti, Taraka, Kearns, Liz, Seifert, Bryce A., Schachter, Miriam, Son, Rachel G., Thaxton, Courtney, Udani, Rupa, Bali, Deeksha, Baudet, Heather, Caggana, Michele, Hung, Christina, Kyriakopoulou, Lianna, Rosenblum, Lynne, Steiner, Robert, Pinto e Vairo, Filippo, Wang, Yang, Watson, Michael, Fernandez, Raquel, Weaver, Meredith, Clarke, Lorne, Rehder, Catherine
Published in Molecular genetics and metabolism (01.09.2023)
Published in Molecular genetics and metabolism (01.09.2023)
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Abstract P4-05-03: Mutational analysis of triple-negative breast cancer (TNBC): CALGB 40603 (Alliance)
Hoadley, Katherine A, Powell, Bradford C., Kanavy, Dona, Marron, David, Mose, Lisle E., Hyslop, Terry, Berry, Donald A., Hahn, Olwen, Tolaney, Sara M., Sikov, William M., Perou, Charles M., Carey, Lisa A.
Published in Cancer research (Chicago, Ill.) (15.02.2020)
Published in Cancer research (Chicago, Ill.) (15.02.2020)
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Journal Article
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Brnich, Sarah E, Abou Tayoun, Ahmad N, Couch, Fergus J, Cutting, Garry R, Greenblatt, Marc S, Heinen, Christopher D, Kanavy, Dona M, Luo, Xi, Mcnulty, Shannon M, Starita, Lea M, Tavtigian, Sean V, Wright, Matt W, Harrison, Steven M, Biesecker, Leslie G, Berg, Jonathan S
Published in bioRxiv (17.10.2019)
Published in bioRxiv (17.10.2019)
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