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19 results on '"McCarty Wood, Elisabeth"'

1. Development, user and usability testing of MyCancerGene: A digital genetic health portal for patients who have received germline cancer genetic test results (Preprint)

Author

Triue, Phillip, primary, Fetzer, Dominique, additional, McLeod, Briana, additional, Schweickert, Kathryn, additional, Gutstein, Lauren, additional, Egleston, Brian, additional, Domchek, Susan, additional, Fleisher, Linda, additional, Wagner, Lynne I., additional, Wen, Kuang-Yi, additional, Cacioppo, Cara, additional, Ebrahimzadeh, Jessica E, additional, Falcone, Dana, additional, Langer, Claire, additional, McCarty-Wood, Elisabeth, additional, Karpink, Kelsey, additional, Posen, Shelby, additional, Selmani, Enida, additional, and Bradbury, Angela, additional

Published
2024
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4. Randomized study of remote telehealth genetic services versus usual care in oncology practices without genetic counselors

Author

Cacioppo, Cara N., primary, Egleston, Brian L., additional, Fetzer, Dominique, additional, Burke Sands, Colleen, additional, Raza, Syeda A., additional, Reddy Malleda, Neeraja, additional, McCarty Wood, Elisabeth, additional, Rittenburg, India, additional, Childs, Julianne, additional, Cho, David, additional, Hosford, Martha, additional, Khair, Tina, additional, Khatri, Jamil, additional, Komarnicky, Lydia, additional, Poretta, Trina, additional, Rahman, Fahd, additional, Shah, Satish, additional, Patrick‐Miller, Linda J., additional, Domchek, Susan M., additional, and Bradbury, Angela R., additional

Published
2021
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7. O4‐08‐03: PSYCHOSOCIAL OUTCOMES OF APOE E4 GENOTYPE DISCLOSURE IN THE GENERATION STUDY

Author

Bradbury, Angela R., primary, Karlawish, Jason, additional, Roberts, J Scott, additional, Egleston, Brian L., additional, Patrick-Miller, Linda, additional, McCarty Wood, Elisabeth, additional, Kim, Scott YH., additional, Jaeger, Jan, additional, Reddy, Neeraja, additional, Cacioppo, Cara, additional, Henry-Moss, Dare, additional, Jideama, Stephanie, additional, Ofidis, Demetrios, additional, Liu, Fonda, additional, Caputo, Angelika, additional, Riviere, Marie-Emmanuelle, additional, Bezuidenhoudt, Mauritz, additional, Langlois, Carolyn, additional, Reiman, Eric M., additional, Tariot, Pierre N., additional, and Langbaum, Jessica B., additional

Published
2018
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8. Uptake of genetic testing and outcomes in a randomized study of remote genetic services as compared to usual care in community practices without genetic providers.

Author

Bradbury, Angela R., primary, Patrick-Miller, Linda J., additional, Egleston, Brian L., additional, Burke Sands, Colleen, additional, Abbas, Syeda, additional, Cacioppo, Cara, additional, Reddy, Neeraja, additional, McCarty Wood, Elisabeth, additional, and Domchek, Susan M., additional

Published
2018
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10. PSYCHOSOCIAL OUTCOMES OF APOE E4 GENOTYPE DISCLOSURE IN THE GENERATION STUDY

Author

Bradbury, Angela R., Karlawish, Jason, Roberts, J Scott, Egleston, Brian L., Patrick-Miller, Linda, McCarty Wood, Elisabeth, Kim, Scott YH., Jaeger, Jan, Reddy, Neeraja, Cacioppo, Cara, Henry-Moss, Dare, Jideama, Stephanie, Ofidis, Demetrios, Liu, Fonda, Caputo, Angelika, Riviere, Marie-Emmanuelle, Bezuidenhoudt, Mauritz, Langlois, Carolyn, Reiman, Eric M., Tariot, Pierre N., and Langbaum, Jessica B.

Published
2018
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12. Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory

Author

Barral, S., Bird, T., Goate, A., Farlow, M.R., Diaz-Arrastia, R., Bennett, D.A., Graff-Radford, N., Boeve, B.F., Sweet, R.A., Stern, Y., Wilson, R.S., Foroud, T., Ott, J., Mayeux, R., Green, Robert, Kowall, Neil, Farrer, Lindsay, Williamson, Jennifer, Santana, Vincent, Schmechel, Donald, Gaskel, Peter, Ghetti, Bernardino, Farlow, Martin R., Faber, Kelley, Prentice, Heather, Horner, Kelly, Growdon, John H., Blacker, Deborah, Tanzi, Rudolph E., Hyman, Bradley T., Boeve, Bradley, Kuntz, Karen, Norgaard, Lindsay, Larson, Nathan, Kistler, Dana, Parfitt, Francine, Haddow, Jenny, Silverman, Jeremy, Beeri, Michal Schnaider, Sano, Mary, Wang, Joy, Lally, Rachel, Johnson, Nancy, Mesulam, Marcel, Weintraub, Sandra, Bigio, Eileen, Kaye, Jeffery, Kramer, Patricia, Payne-Murphy, Jessica, Bennett, David, Jacobs, Holli, Chang, Jeen-Soo, Arends, Danielle, Harrell, Lindy, Bartzokis, George, Cummings, Jeffery, Lu, Po H., Toland, Usha, Smith, Charles, Brickhouse, Alise, Trojanowski, John, Van Deerlin, Vivianna, McCarty Wood, Elisabeth, DeKosky, Steven, Sweet, Robert, Weamer, Elise, Chui, Helena, Varpetian, Arousiak, Diaz-Arrastia, Ramon, Rosenberg, Roger, Davis, Barbara, Bird, Thomas, Schellenberg, Gerard D., Raskind, Murray, Rumbaugh, Malia, Nickel, Kate, Goate, Alison, Morris, John, Norton, Joanne, Levitch, Denise, Grant, Betsy, Coats, Mary, Levey, Allen, Rosen, Ami, and Anosike, Ezinna

Subjects
Apolipoprotein E, Male, Genotype, Memory, Episodic, Single-nucleotide polymorphism, Genome-wide association study, Biology, Neuropsychological Tests, Polymorphism, Single Nucleotide, PICALM, Apolipoproteins E, Alzheimer Disease, medicine, Humans, Genetic Predisposition to Disease, Episodic memory, Genetic association, Adaptor Proteins, Signal Transducing, Aged, Genetics, Aged, 80 and over, Tumor Suppressor Proteins, Nuclear Proteins, Articles, Middle Aged, medicine.disease, Clusterin, Endophenotype, Monomeric Clathrin Assembly Proteins, Receptors, Complement 3b, Female, Neurology (clinical), Alzheimer's disease, Genome-Wide Association Study
Abstract

Objective: Several genome-wide association studies (GWAS) have associated variants in lateonset Alzheimer disease (LOAD) susceptibility genes; however, these single nucleotide polymorphisms (SNPs) have very modest effects, suggesting that single SNP approaches may be inadequate to identify genetic risks. An alternative approach is the use of multilocus genotype patterns (MLGPs) that combine SNPs at different susceptibility genes. Methods: Using data from 1,365 subjects in the National Institute on Aging Late-Onset Alzheimer’s Disease Family Study, we conducted a family-based association study in which we tabulated MLGPs for SNPs at CR1, BIN1, CLU, PICALM, and APOE. We used generalized estimating equations to model episodic memory as the dependent endophenotype of LOAD and the MLGPs as predictors while adjusting for sex, age, and education. Results: Several genotype patterns influenced episodic memory performance. A pattern that included PICALM and CLU was the strongest genotypic profile for lower memory performance ( 0.32, SE 0.19, p 0.021). The effect was stronger after addition of APOE (p 0.016). Two additional patterns involving PICALM, CR1, and APOE and another pattern involving PICALM, BIN1, and APOE were also associated with significantly poorer memory performance ( 0.44, SE 0.09, p 0.009 and 0.29, SE 0.07, p 0.012) even after exclusion of patients with LOAD. We also identified genotype pattern involving variants in PICALM, CLU, and APOE as a predictor of better memory performance ( 0.26, SE 0.10, p 0.010). Conclusions: MLGPs provide an alternative analytical approach to predict an individual’s genetic risk for episodic memory performance, a surrogate indicator of LOAD. Identifying genotypic patterns contributing to the decline of an individual’s cognitive performance may be a critical step along the road to preclinical detection of Alzheimer disease. Neurology ® 2012;78:1464–1471

Published
2012

13. F3-03-04: The Alzheimer's prevention initiative: Genetic testing, disclosure, and counseling strategies

Author

Langbaum, Jessica B., primary, Karlawish, Jason, additional, Roberts, J. Scott, additional, McCarty Wood, Elisabeth, additional, Kim, Scott, additional, Bradbury, Angela R., additional, Patrick-Miller, Linda, additional, Blacker, Deborah, additional, Caselli, Richard J., additional, Zallen, Doris, additional, Marchant, Gary E., additional, Langlois, Carolyn, additional, Reiman, Eric M., additional, and Tariot, Pierre N., additional

Published
2015
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14. A NovelGRNMutation (GRNc.708+6_+9delTGAG) in Frontotemporal Lobar Degeneration With TDP-43–Positive Inclusions

Author

Bit-Ivan, Esther N., primary, Suh, Eunran, additional, Shim, Hyung-Sub, additional, Weintraub, Sandra, additional, Hyman, Bradley T., additional, Arnold, Steven E., additional, McCarty-Wood, Elisabeth, additional, Van Deerlin, Viviana M., additional, Schneider, Julie A., additional, Trojanowski, John Q., additional, Frosch, Matthew P., additional, Baker, Matt C., additional, Rademakers, Rosa, additional, Mesulam, Marsel, additional, and Bigio, Eileen H., additional

Published
2014
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15. Frequency and Clinicopathological Characteristics of Presenilin 1 Gly206Ala Mutation in Puerto Rican Hispanics with Dementia

Author

Arnold, Steven E., primary, Vega, Irving E., additional, Karlawish, Jason H., additional, Wolk, David A., additional, Nunez, Jessica, additional, Negron, Mirna, additional, Xie, Sharon X., additional, Wang, Li-San, additional, Dubroff, Jacob G., additional, McCarty-Wood, Elisabeth, additional, Trojanowski, John Q., additional, and Van Deerlin, Vivianna, additional

Published
2013
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16. Genotype patterns at PICALM, CR1, BIN1, CLU , and APOE genes are associated with episodic memory

Author

Barral, S., primary, Bird, T., additional, Goate, A., additional, Farlow, M.R., additional, Diaz-Arrastia, R., additional, Bennett, D.A., additional, Graff-Radford, N., additional, Boeve, B.F., additional, Sweet, R.A., additional, Stern, Y., additional, Wilson, R.S., additional, Foroud, T., additional, Ott, J., additional, Mayeux, R., additional, Green, Robert, additional, Kowall, Neil, additional, Farrer, Lindsay, additional, Williamson, Jennifer, additional, Santana, Vincent, additional, Schmechel, Donald, additional, Gaskel, Peter, additional, Ghetti, Bernardino, additional, Farlow, Martin R., additional, Faber, Kelley, additional, Prentice, Heather, additional, Horner, Kelly, additional, Growdon, John H., additional, Blacker, Deborah, additional, Tanzi, Rudolph E., additional, Hyman, Bradley T., additional, Boeve, Bradley, additional, Kuntz, Karen, additional, Norgaard, Lindsay, additional, Larson, Nathan, additional, Kistler, Dana, additional, Parfitt, Francine, additional, Haddow, Jenny, additional, Silverman, Jeremy, additional, Beeri, Michal Schnaider, additional, Sano, Mary, additional, Wang, Joy, additional, Lally, Rachel, additional, Johnson, Nancy, additional, Mesulam, Marcel, additional, Weintraub, Sandra, additional, Bigio, Eileen, additional, Kaye, Jeffery, additional, Kramer, Patricia, additional, Payne-Murphy, Jessica, additional, Bennett, David, additional, Jacobs, Holli, additional, Chang, Jeen-Soo, additional, Arends, Danielle, additional, Harrell, Lindy, additional, Bartzokis, George, additional, Cummings, Jeffery, additional, Lu, Po H., additional, Toland, Usha, additional, Smith, Charles, additional, Brickhouse, Alise, additional, Trojanowski, John, additional, Van Deerlin, Vivianna, additional, McCarty Wood, Elisabeth, additional, DeKosky, Steven, additional, Sweet, Robert, additional, Weamer, Elise, additional, Chui, Helena, additional, Varpetian, Arousiak, additional, Diaz-Arrastia, Ramon, additional, Rosenberg, Roger, additional, Davis, Barbara, additional, Bird, Thomas, additional, Schellenberg, Gerard D., additional, Raskind, Murray, additional, Rumbaugh, Malia, additional, Nickel, Kate, additional, Goate, Alison, additional, Morris, John, additional, Norton, Joanne, additional, Levitch, Denise, additional, Grant, Betsy, additional, Coats, Mary, additional, Levey, Allen, additional, Rosen, Ami, additional, and Anosike, Ezinna, additional

Published
2012
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18. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.

Author

van Blitterswijk, Marka, Baker, Matthew C., Dejesus-Hernandez, Mariely, Ghidoni, Roberta, Benussi, Luisa, Finger, Elizabeth, Hsiung, Ging-Yuek R., Kelley, Brendan J., Murray, Melissa E., Rutherford, Nicola J., Brown, Patricia E., Ravenscroft, Thomas, Mullen, Bianca, Ash, Peter E. A., Bieniek, Kevin F., Hatanpaa, Kimmo J., Karydas, Anna, McCarty Wood, Elisabeth, Coppola, Giovanni, and Bigio, Eileen H.

Published
2013
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19. Genetic and Clinical Features of Progranulin-Associated Frontotemporal Lobar Degeneration.

Author

Chen-Plotkin, Alice S., Martinez-Lage, Maria, Sleiman, Patrick M. A., Hu, William, Greene, Robert, McCarty Wood, Elisabeth, Bing, Shaoxu, Grossman, Murray, Schellenberg, Gerard D., Hatanpaa, Kimmo J., Weiner, Myron F., White, Charles L., Brooks, William S., Halliday, Glenda M., Kril, Jillian J., Gearing, Marla, Beach, Thomas G., Graff-Radford, Neill R., Dickson, Dennis W., and Rademakers, Rosa

Abstract

Objective: To assess the relative frequency of unique mutations and their associated characteristics in 97 individuals with mutations in progranulin (GRN), an important cause of frontotemporal lobar degeneration (FTLD). Participants and Design: A 46-site International Frontotemporal Lobar Degeneration Collaboration was formed to collect cases of FTLD with TAR DNA-binding protein of 43-kDa (TDP-43)-positive inclusions (FTLD-TDP).We identified 97 individuals with FTLD-TDP with pathogenic GRN mutations (GRN+ FTLD-TDP), assessed their genetic and clinical characteristics, and compared them with 453 patients with FTLD-TDP in which GRN mutations were excluded (GRN-FTLD-TDP). No patients were known to be related. Neuropathologic characteristics were confirmed as FTLD-TDP in 79 of the 97 GRN+ FTLDTDP cases and all of the GRN-FTLD-TDP cases. Results: Age at onset of FTLD was younger in patients with GRN+ FTLD-TDP vs GRN-FTLD-TDP (median, 58.0 vs 61.0 years; P<.001), as was age at death (median, 65.5 vs 69.0 years; P<.001). Concomitant motor neuron disease was much less common in GRN+ FTLDTDP vs GRN-FTLD-TDP (5.4% vs 26.3%; P<.001). Fifty different GRN mutations were observed, including 2 novel mutations: c.139delG (p.D47TfsX7) and c.378C>A (p.C126X). The 2 most common GRN mutations were c.1477C>T (p.R493X, found in 18 patients, representing 18.6% of GRN cases) and c.26C>A (p.A9D, found in 6 patients, representing 6.2% of cases). Patients with the c.1477C>T mutation shared a haplotype on chromosome 17; clinically, they resembled patients with other GRN mutations. Patients with the c.26C>A mutation appeared to have a younger age at onset of FTLD and at death and more parkinsonian features than those with other GRN mutations. Conclusion: GRN+ FTLD-TDP differs in key features from GRN-FTLD-TDP. [ABSTRACT FROM AUTHOR]

Published
2011
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