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14 results on '"Beckman, Erika"'

2. 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

Author

Zalusky, Miranda P.G., Gustafson, Jonas A., Bohaczuk, Stephanie C., Mallory, Ben, Reed, Paxton, Wenger, Tara, Beckman, Erika, Chang, Irene J., Paschal, Cate R., Buchan, Jillian G., Lockwood, Christina M., Puia-Dumitrescu, Mihai, Garalde, Daniel R., Guillory, Joseph, Markham, Androo J., Bamshad, Michael J., Eichler, Evan E., Stergachis, Andrew B., and Miller, Danny E.

Published
2024
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5. Targeted long-read sequencing identifies missing disease-causing variation

Author

Miller, Danny E., Sulovari, Arvis, Wang, Tianyun, Loucks, Hailey, Hoekzema, Kendra, Munson, Katherine M., Lewis, Alexandra P., Fuerte, Edith P. Almanza, Paschal, Catherine R., Walsh, Tom, Thies, Jenny, Bennett, James T., Glass, Ian, Dipple, Katrina M., Patterson, Karynne, Bonkowski, Emily S., Nelson, Zoe, Squire, Audrey, Sikes, Megan, Beckman, Erika, Bennett, Robin L., Earl, Dawn, Lee, Winston, Allikmets, Rando, Perlman, Seth J., Chow, Penny, Hing, Anne V., Wenger, Tara L., Adam, Margaret P., Sun, Angela, Lam, Christina, Chang, Irene, Zou, Xue, Austin, Stephanie L., Huggins, Erin, Safi, Alexias, Iyengar, Apoorva K., Reddy, Timothy E., Majoros, William H., Allen, Andrew S., Crawford, Gregory E., Kishnani, Priya S., King, Mary-Claire, Cherry, Tim, Chong, Jessica X., Bamshad, Michael J., Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, and Eichler, Evan E.

Published
2021
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6. Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing

Author

Marquez, Jonathan, Cech, Jennifer N., Paschal, Cate R., Dingmann, Bri, Scott, Anna I., Thies, Jenny M., Mills, Maria R., Albert, Catherine M., Beck, Anita E., Beckman, Erika, Bonkowski, Emily S., Earl, Dawn L., Lam, Christina T., Mefford, Heather C., Merritt, J. Lawrence, II, Nelson, Zoe, Ohlsen, Timothy J.D., Taylor, Mallory R., Perlman, Seth J., Rudzinski, Erin R., Sikes, Megan C., Waligorski, Natalie, Wenger, Tara L., Adam, Margaret P., Mirzaa, Ghayda M., Bennett, James T., Glass, Ian A., Sternen, Darci L., and Miller, Danny E.

Published
2024
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9. 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

Author

Galey, Miranda, primary, Reed, Paxton, additional, Wenger, Tara, additional, Beckman, Erika, additional, Chang, Irene J., additional, Paschal, Cate R., additional, Buchan, Jillian G., additional, Lockwood, Christina M., additional, Puia-Dumitrescu, Mihai, additional, Garalde, Daniel R., additional, Guillory, Joseph, additional, Markham, Androo J., additional, Stergachis, Andrew B., additional, Bamshad, Michael J., additional, Eichler, Evan E., additional, and Miller, Danny E., additional

Published
2022
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11. A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Hurler syndrome

Author

Sun, Angela, primary, Zhang, Tong, additional, Duong, Phi, additional, Dayuha, Remwilyn, additional, Dang, Andy, additional, Collins, Christopher, additional, Scott, Anna, additional, Beckman, Erika, additional, Thies, Jenny, additional, Chang, Irene, additional, Lam, Christina, additional, Kahledi, Hamid, additional, Gelb, Michael, additional, and Hahn, Sihoun, additional

Published
2022
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12. "Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey.

Author

Deuitch, Natalie T., Beckman, Erika, Halley, Meghan C., Young, Jennifer L., Reuter, Chloe M., Kohler, Jennefer, Bernstein, Jonathan A., Wheeler, Matthew T., Ormond, Kelly E., and Tabor, Holly K.

Abstract

Parents of children with undiagnosed conditions struggle to obtain information about how to treat and support their children. It can be particularly challenging to find communities and other parents who share their experiences and can provide emotional and informational support. This study sought to characterize how parents use social media, both throughout the diagnostic odyssey and post‐diagnosis, to meet their informational, social, and emotional support needs. We conducted qualitative semi‐structured interviews with 14 parents from the Stanford site of the Undiagnosed Diseases Network (UDN), including five whose children had received a diagnosis through study participation. Interview recordings were analyzed using inductive, team‐based coding and thematic analysis based in grounded theory using Dedoose qualitative analysis software. Through this process, we identified four key themes related to social media use. First, parents struggled to find the "right" community, often seeking out groups of similar patients based on symptoms or similar conditions. Second, though they found much valuable information through social media about caring for their child, they also struggled to interpret the relevance of the information to their own child's condition. Third, the social support and access to other patients' and families' lived experiences were described as both highly valued and emotionally challenging, particularly in the case of poor outcomes for similar families. Finally, parents expressed the need to balance concerns about their child's privacy with the value of transparency and data sharing for diagnosis. Our results suggest that the needs and experiences of undiagnosed patients and families differ from those with diagnosed diseases and highlight the need for support in best utilizing social media resources at different stages of the diagnostic odyssey. [ABSTRACT FROM AUTHOR]

Published
2021
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