Resolution of complex ends by Nonhomologous end joining - better to be lucky than good?

por Strande, Natasha Tiffany, Waters, Crystal Ann, Ramsden, Dale A
Publicado 2012

Ku is a 5'dRP/AP lyase that excises nucleotide damage near broken ends

por Roberts, Steven A., Strande, Natasha, Burkhalter, Martin D., Strom, Christina, Havener, Jody M., Hasty, Paul, Ramsden, Dale A.
Publicado 2010

The Phenotypic Spectrum of COL4A3 Heterozygotes

por Solanki, Kaushal V., Hu, Yirui, Moore, Bryn S., Abedi, Vida, Avula, Venkatesh, Mirshahi, Tooraj, Strande, Natasha T., Bucaloiu, Ion D., Chang, Alexander R.
Publicado 2023

The Phenotypic Spectrum of COL4A3 Heterozygotes

por Solanki, Kaushal V., Hu, Yirui, Moore, Bryn S., Abedi, Vida, Avula, Venkatesh, Mirshahi, Tooraj, Strande, Natasha T., Bucaloiu, Ion D., Chang, Alexander R.
Publicado 2023

Requirements for 5′dRP/AP lyase activity in Ku

por Strande, Natasha T., Carvajal-Garcia, Juan, Hallett, Ryan A., Waters, Crystal A., Roberts, Steven A., Strom, Christina, Kuhlman, Brian, Ramsden, Dale A.
Publicado 2014

Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes

por Rhine, Christy L., Neil, Christopher, Wang, Jing, Maguire, Samantha, Buerer, Luke, Salomon, Mitchell, Meremikwu, Ijeoma C., Kim, Juliana, Strande, Natasha T., Fairbrother, William G.
Publicado 2022

“Possibly positive or certainly uncertain?”: Participants’ responses to uncertain diagnostic results from exome sequencing

por Skinner, Debra, Roche, Myra I., Weck, Karen E., Raspberry, Kelly A., Foreman, A. Katherine M., Strande, Natasha T., Berg, Jonathan S., Evans, James P., Henderson, Gail E.
Publicado 2017

Combination of exome sequencing and immune testing confirms Aicardi–Goutières syndrome type 5 in a challenging pediatric neurology case

por Haskell, Gloria T., Mori, Mari, Powell, Cynthia, Amrhein, Timothy J., Rice, Gillian I., Bailey, Lauren, Strande, Natasha, Weck, Karen E., Evans, James P., Berg, Jonathan S., Kishnani, Priya
Publicado 2018

The fidelity of the ligation step determines how ends are resolved during Nonhomologous end joining

por Waters, Crystal A., Strande, Natasha T., Pryor, John M., Strom, Christina, Mieczkowski, Piotr, Burkhalter, Martin D., Oh, Sehyun, Qaqish, Bahjat F., Moore, Dominic T., Hendrickson, Eric A., Ramsden, Dale A.
Publicado 2014

Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients

por Oetjens, Matthew T., Luo, Jonathan Z., Chang, Alexander, Leader, Joseph B., Hartzel, Dustin N., Moore, Bryn S., Strande, Natasha T., Kirchner, H. Lester, Ledbetter, David H., Justice, Anne E., Carey, David J., Mirshahi, Tooraj
Publicado 2020

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

por Marchuk, Daniel S., Crooks, Kristy, Strande, Natasha, Kaiser-Rogers, Kathleen, Milko, Laura V., Brandt, Alicia, Arreola, Alexandra, Tilley, Christian R., Bizon, Chris, Vora, Neeta L., Wilhelmsen, Kirk C., Evans, James P., Berg, Jonathan S.
Publicado 2018

A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

por Jones, Laney K., Strande, Natasha T., Calvo, Evan M., Chen, Jingheng, Rodriguez, Gabriela, McCormick, Cara Z., Hallquist, Miranda L. G., Savatt, Juliann M., Rocha, Heather, Williams, Marc S., Sturm, Amy C., Buchanan, Adam H., Glasgow, Russell E., Martin, Christa L., Rahm, Alanna Kulchak
Publicado 2022

Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening

por Gidding, Samuel S., Kirchner, H. Lester, Brangan, Andrew, Howard, William, Kelly, Melissa A., Myers, Kelly D., Morgan, Kelly M., Oetjens, Matthew T., Shuey, Timothy C., Staszak, David, Strande, Natasha T., Walters, Nicole L., Yu, Kristen D., Wilemon, Katherine A., Williams, Marc S., Sturm, Amy C., Jones, Laney K.
Publicado 2023

Prenatal Exome Sequencing in Anomalous Fetuses: New Opportunities and Challenges

por Vora, Neeta L., Powell, Bradford, Brandt, Alicia, Strande, Natasha, Hardisty, Emily, Gilmore, Kelly, Foreman, Ann Katherine M., Wilhelmsen, Kirk, Bizon, Chris, Reilly, Jason, Owen, Phil, Powell, Cynthia M., Skinner, Debra, Rini, Christine, Lyerly, Anne D., Boggess, Kim A., Weck, Karen, Berg, Jonathan S., Evans, James P.
Publicado 2017

ClinGen Allele Registry links information about genetic variants

por Pawliczek, Piotr, Patel, Ronak Y., Ashmore, Lillian R., Jackson, Andrew R., Bizon, Chris, Nelson, Tristan, Powell, Bradford, Freimuth, Robert R., Strande, Natasha, Shah, Neethu, Paithankar, Sameer, Wright, Matt W., Dwight, Selina, Zhen, Jimmy, Landrum, Melissa, McGarvey, Peter, Babb, Larry, Plon, Sharon E., Milosavljevic, Aleksandar
Publicado 2018

Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants

por de Andrade, Kelvin C., Strande, Natasha T., Kim, Jung, Haley, Jeremy S., Hatton, Jessica N., Frone, Megan N., Khincha, Payal P., Thone, Gretchen M., Mirshahi, Uyenlinh L., Schneider, Cynthia, Desai, Heena, Dove, James T., Smelser, Diane T., Levine, Arnold J., Maxwell, Kara N., Stewart, Douglas R., Carey, David J., Savage, Sharon A.
Publicado 2023

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

por Haskell, Gloria T., Adams, Michael C., Fan, Zheng, Amin, Krunal, Guzman Badillo, Roberto J., Zhou, Linran, Bizon, Christopher, Chahin, Nizar, Greenwood, Robert S., Milko, Laura V., Shiloh-Malawsky, Yael, Crooks, Kristy R., Strande, Natasha, Tennison, Michael, Tilley, Christian R., Brandt, Alicia, Wilhelmsen, Kirk C., Weck, Karen, Evans, James P., Berg, Jonathan S.
Publicado 2018

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

por Berg, Jonathan S., Foreman, Ann Katherine M., O'Daniel, Julianne M., Booker, Jessica K., Boshe, Lacey, Carey, Timothy, Crooks, Kristy R., Jensen, Brian C., Juengst, Eric T., Lee, Kristy, Nelson, Daniel K., Powell, Bradford C., Powell, Cynthia M., Roche, Myra I., Skrzynia, Cecile, Strande, Natasha T., Weck, Karen E., Wilhelmsen, Kirk C., Evans, James P.
Publicado 2016

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

por Ingles, Jodie, Goldstein, Jennifer, Thaxton, Courtney, Caleshu, Colleen, Corty, Edward W., Crowley, Stephanie B., Dougherty, Kristen, Harrison, Steven M., McGlaughon, Jennifer, Milko, Laura V., Morales, Ana, Seifert, Bryce A., Strande, Natasha, Thomson, Kate, Peter van Tintelen, J., Wallace, Kathleen, Walsh, Roddy, Wells, Quinn, Whiffin, Nicola, Witkowski, Leora, Semsarian, Christopher, Ware, James S., Hershberger, Ray E., Funke, Birgit
Publicado 2019

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

por Hunter, Jessica Ezzell, Irving, Stephanie A., Biesecker, Leslie G., Buchanan, Adam, Jensen, Brian, Lee, Kristy, Martin, Christa Lese, Milko, Laura, Muessig, Kristin, Niehaus, Annie D., O'Daniel, Julianne, Piper, Margaret A., Ramos, Erin M., Schully, Sheri D., Scott, Alan F., Slavotinek, Anne, Sobreira, Nara, Strande, Natasha, Weaver, Meredith, Webber, Elizabeth M., Williams, Marc S., Berg, Jonathan S., Evans, James P., Goddard, Katrina A.B.
Publicado 2016