Search Results - "Savage, Sarah"

Social Outcomes in Mid- to Later Adulthood Among Individuals Diagnosed With Autism and Average Nonverbal IQ as Children by Howlin, Patricia, Ph.D, Moss, Philippa, Ph.D, Savage, Sarah, Ph.D, Rutter, Michael, M.D

“…Objective To describe current social functioning in a clinical sample of 60 adults with autism (mean age = 44 years) who were all of average nonverbal IQ (70+)…”
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Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility by Cassa, Christopher A, Savage, Sarah K, Taylor, Patrick L, Green, Robert C, McGuire, Amy L, Mandl, Kenneth D

“…There is an emerging consensus that when investigators obtain genomic data from research participants, they may incur an ethical responsibility to inform…”
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Short report: Twins with 20p13 duplication. Case report and comprehensive literature review by Kennedy, Benjamin J., Savage, Sarah K., Kaler, Stephen G.

“…Background Trisomy 20p is a rare genetic condition caused by a duplication of the short arm of chromosome 20. Methods We employed clinical observation and…”
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Using a chat-based informed consent tool in large-scale genomic research by Savage, Sarah K, LoTempio, Jonathan, Smith, Erica D, Andrew, E Hallie, Mas, Gloria, Kahn-Kirby, Amanda H, Délot, Emmanuèle, Cohen, Andrea J, Pitsava, Georgia, Nussbaum, Robert, Fusaro, Vincent A, Berger, Seth, Vilain, Eric

“…Abstract Objective We implemented a chatbot consent tool to shift the time burden from study staff in support of a national genomics research study. Materials…”
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Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board by Holm, Ingrid A., Savage, Sarah K., Green, Robert C., Juengst, Eric, McGuire, Amy, Kornetsky, Susan, Brewster, Stephanie J., Joffe, Steven, Taylor, Patrick

“…Purpose: Approaches to return individual results to participants in genomic research variably focus on actionability, duty to share, or participants’…”
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Development of a culturally targeted chatbot to inform living kidney donor candidates of African ancestry about APOL1 genetic testing: a mixed methods study by Gordon, Elisa J., Gacki-Smith, Jessica, Gooden, Matthew J., Waite, Preeya, Yacat, Rochell, Abubakari, Zenab R., Duquette, Debra, Agrawal, Akansha, Friedewald, John, Savage, Sarah K., Cooper, Matthew, Gilbert, Alexander, Muhammad, Lutfiyya N., Wicklund, Catherine

“…Clinical chatbots are increasingly used to help integrate genetic testing into clinical contexts, but no chatbot exists for A polipoprotein L1 ( APOL1 )…”
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Facilitating family communication of familial hypercholesterolemia genetic risk: Assessing engagement with innovative chatbot technology from the IMPACT-FH study by Walters, Nicole L., Lindsey-Mills, Zoe T., Brangan, Andrew, Savage, Sarah K., Schmidlen, Tara J., Morgan, Kelly M., Tricou, Eric P., Betts, Megan M., Jones, Laney K., Sturm, Amy C., Campbell-Salome, Gemme

“…To assess use of two web-based conversational agents, the Family Sharing Chatbot (FSC) and One Month Chatbot (OMC), by individuals with familial…”
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P471: Uptake of a chatbot for disclosure of germline genetic test results through a universal genetic testing program by Zukin, Elyssa, Nehoray, Bita, Garcia, Michael, Hampel, Heather, Luong, Marilan, Moretz, Chad, Raman, Anish, Savage, Sarah, Solomon, Ilana, Xiao, Yi, Gruber, Stephen, Gray, Stacy

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Family health history reporting is sensitive to small changes in wording by Conway-Pearson, Liam S., Christensen, Kurt D., Savage, Sarah K., Huntington, Noelle L., Weitzman, Elissa R., Ziniel, Sonja I., Bacon, Phoebe, Cacioppo, Cara N., Green, Robert C., Holm, Ingrid A.

“…Family health history is often collected through single-item queries that ask patients whether their family members are affected by certain conditions. The…”
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The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository by Harris, Erin D., Ziniel, Sonja I., Amatruda, Jonathan G., Clinton, Catherine M., Savage, Sarah K., Taylor, Patrick L., Huntington, Noelle L., Green, Robert C., Holm, Ingrid A.

“…Purpose: Little is known about parental attitudes toward return of individual research results (IRRs) in pediatric genomic research. The aim of this study was…”
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Preferences for the Return of Individual Results From Research on Pediatric Biobank Samples by Christensen, Kurt D., Savage, Sarah K., Huntington, Noelle L., Weitzman, Elissa R., Ziniel, Sonja I., Bacon, Phoebe L., Cacioppo, Cara N., Green, Robert C., Holm, Ingrid A.

“…Discussions about disclosing individual genetic research results include calls to consider participants’ preferences. In this study, parents of Boston…”
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Neglectful Behavior by Parents in the Life History of University Students in 17 Countries and Its Relation to Violence Against Dating Partners by Straus, Murray A., Savage, Sarah A.

“…This article reports the prevalence of neglectful behavior by parents of university students in 17 nations (6 in Europe, 2 in North America, 2 in Latin…”
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P gene mutations associated with oculocutaneous albinism type II (OCA2) by Oetting, William S., Garrett, Sarah Savage, Brott, Marcia, King, Richard A.

“…Oculocutaneous albinism type II (OCA2) is the most common form of albinism in humans. OCA2 has been previously associated with mutations of the P gene, the…”
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Enhancing Autonomy in Biobank Decisions: Too Much of a Good Thing? by Mitchell, Phoebe B., Ziniel, Sonja I., Savage, Sarah K., Christensen, Kurt D., Weitzman, Elissa R., Green, Robert C., Huntington, Noelle L., Mathews, Debra J., Holm, Ingrid A.

“…The opportunity to receive individual research results (IRRs) in accordance with personal preferences may incentivize biobank participation and maximize…”
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Participant Satisfaction With a Preference-Setting Tool for the Return of Individual Research Results in Pediatric Genomic Research by Holm, Ingrid A., Iles, Brittany R., Ziniel, Sonja I., Bacon, Phoebe L., Savage, Sarah K., Christensen, Kurt D., Weitzman, Elissa R., Green, Robert C., Huntington, Noelle L.

“…The perceived benefit of return of individual research results (IRRs) in accordance to participants’ preferences in genomic biobank research is unclear. We…”
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The Development of a Preference-Setting Model for the Return of Individual Genomic Research Results by Bacon, Phoebe L., Harris, Erin D., Ziniel, Sonja I., Savage, Sarah K., Weitzman, Elissa R., Green, Robert C., Huntington, Noelle L., Holm, Ingrid A.

“…Understanding participants’ preferences for the return of individual research results (IRR) in genomic research may allow for the implementation of more…”
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Increased LIS1 expression affects human and mouse brain development by Lu, Xin-Yan, Horner, Michele, Day-Salvatore, Debra-Lynn, Sahoo, Trilochan, Withers, Marjorie A, Cheung, Sau Wai, Gunderson, Kevin L, Hunter, Jill V, Sapir, Tamar, Peiffer, Daniel A, Yanagawa, Yuchio, Reiner, Orly, Shchelochkov, Oleg A, Levy, Talia, Lupski, James R, Nezarati, Marjan M, Martinez, Salvador, Savage, Sarah K, Shinder, Vera, Harris, David J, Ann Shotts, Vern, Bi, Weimin, Amato, Stephen S, Beaudet, Arthur L, Zhang, Feng

“…James Lupski, Orly Reiner and colleagues report seven individuals with submicroscopic copy number gains in the 17p13.3 region, supported by additional studies…”
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Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype by KING, Richard A, PIETSCH, Jacy, FRYER, James P, SAVAGE, Sarah, BROTT, Marcia J, RUSSELL-EGGITT, Isabelle, SUMMERS, C. Gail, OETTING, William S

“…Oculocutaneous albinism (OCA) is a common human genetic condition resulting from mutations in at least twelve different genes. OCA1 results from mutations of…”
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MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2) by King, Richard A., Willaert, Rebecca K., Schmidt, Ramona M., Pietsch, Jacy, Savage, Sarah, Brott, Marcia J., Fryer, James P., Summers, C. Gail, Oetting, William S.

“…The heterogeneous group of disorders known as oculocutaneous albinism (OCA) shares cutaneous and ocular hypopigmentation associated with common developmental…”
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Cognitive and language skills in adults with autism: a 40-year follow-up by Howlin, Patricia, Savage, Sarah, Moss, Philippa, Tempier, Althea, Rutter, Michael

“…Background It is well established that very few individuals with autism spectrum disorders (ASD) and an IQ below 70 are able to live independently as adults…”
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