Publications by authors named "Sarah Savage"

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Primary care patient and clinician attitudes about population genomic screening, informed decision-making needs, and the potential for Chatbot technology.
Rebecca R Moultrie, Sara M Andrews, Kristi M Williams, Oksana Kutsa, Tarneisha Hudnell, Sarah Savage

J Genet Couns· August 2025

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User testing of a previsit chatbot developed for population genomic screening and counseling.
Kelly M Morgan, Jessica Goehringer, Zoe Lindsey-Mills, Andrew Brangan, Jasleen Kaur, Sarah K Savage

J Genet Couns· August 2025

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Short report: Twins with 20p13 duplication. Case report and comprehensive literature review.
Benjamin J Kennedy, Sarah K Savage, Stephen G Kaler

Mol Genet Genomic Med· May 2024

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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.
Elisa J Gordon, Jessica Gacki-Smith, Matthew J Gooden, Preeya Waite, Rochell Yacat, Sarah K Savage

J Community Genet· April 2024

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Risk Factors and Modifiers for Cardiovascular Disease Assessment of Patients with Heterozygous Familial Hypercholesterolaemia.
Richard Malone, Sarah Savage, Vivion Crowley, Martina Hennessy, Patricia O'Connor

J Clin Med· April 2024

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Using a chat-based informed consent tool in large-scale genomic research.
Sarah K Savage, Jonathan LoTempio, Erica D Smith, E Hallie Andrew, Gloria Mas

J Am Med Inform Assoc· January 2024

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Facilitating family communication of familial hypercholesterolemia genetic risk: Assessing engagement with innovative chatbot technology from the IMPACT-FH study.
Nicole L Walters, Zoe T Lindsey-Mills, Andrew Brangan, Sarah K Savage, Tara J Schmidlen

PEC Innov· December 2023

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Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects.
Toni Kasole Lubala, Tony Kayembe-Kitenge, Gerrye Mubungu, Aimé Lumaka, Gray Kanteng, Sarah Savage

Eur J Med Genet· September 2023

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"Development and Implementation of Novel Chatbot-based Genomic Research Consent".
Erica D Smith, Sarah K Savage, E Hallie Andrew, Gloria Mas Martin, Amanda H Kahn-Kirby

bioRxiv· January 2023

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Porphyria cutanea tarda precipitated by ovarian stimulation during oocyte retrieval in a genetically susceptible female.
Erum Rasheed, Sarah Savage, Elena Walsh, Nadia Brazil, Nicola Ralph

Ann Clin Biochem· May 2021

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Turner syndrome in diverse populations.
Paul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, Kelly L Jones, Sarah K Savage

Am J Med Genet A· February 2020

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Phenotype delineation of ZNF462 related syndrome.
Paul Kruszka, Tommy Hu, Sungkook Hong, Rebecca Signer, Benjamin Cogné, Sarah K Savage

Am J Med Genet A· October 2019

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Enhancing Autonomy in Biobank Decisions: Too Much of a Good Thing?
Phoebe B Mitchell, Sonja I Ziniel, Sarah K Savage, Kurt D Christensen, Elissa R Weitzman

J Empir Res Hum Res Ethics· April 2018

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Preferences for the Return of Individual Results From Research on Pediatric Biobank Samples.
Kurt D Christensen, Sarah K Savage, Noelle L Huntington, Elissa R Weitzman, Sonja I Ziniel

J Empir Res Hum Res Ethics· April 2017

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Family health history reporting is sensitive to small changes in wording.
Liam S Conway-Pearson, Kurt D Christensen, Sarah K Savage, Noelle L Huntington, Elissa R Weitzman

Genet Med· December 2016

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Self and informant reports of mental health difficulties among adults with autism findings from a long-term follow-up study.
Philippa Moss, Patricia Howlin, Sarah Savage, Patrick Bolton, Michael Rutter

Autism· October 2015

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Participant Satisfaction With a Preference-Setting Tool for the Return of Individual Research Results in Pediatric Genomic Research.
Ingrid A Holm, Brittany R Iles, Sonja I Ziniel, Phoebe L Bacon, Sarah K Savage

J Empir Res Hum Res Ethics· October 2015

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The development of a preference-setting model for the return of individual genomic research results.
Phoebe L Bacon, Erin D Harris, Sonja I Ziniel, Sarah K Savage, Elissa R Weitzman

J Empir Res Hum Res Ethics· April 2015

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Outcomes in adult life among siblings of individuals with autism.
Patricia Howlin, Philippa Moss, Sarah Savage, Patrick Bolton, Michael Rutter

J Autism Dev Disord· March 2015

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An assessment of clinician and researcher needs for support in the era of genomic medicine.
Sarah K Savage, Sonja I Ziniel, Joan Stoler, David M Margulies, Ingrid A Holm

Per Med· August 2014

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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.
Ingrid A Holm, Sarah K Savage, Robert C Green, Eric Juengst, Amy McGuire

Genet Med· July 2014

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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Catherine A Brownstein, Alan H Beggs, Nils Homer, Barry Merriman, Timothy W Yu, Sarah K Savage

Genome Biol· March 2014

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Cognitive and language skills in adults with autism: a 40-year follow-up.
Patricia Howlin, Sarah Savage, Philippa Moss, Althea Tempier, Michael Rutter

J Child Psychol Psychiatry· January 2014

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Development of a scalable pharmacogenomic clinical decision support service.
Vincent A Fusaro, Catherine Brownstein, Wendy Wolf, Catherine Clinton, Sarah Savage

AMIA Jt Summits Transl Sci Proc· December 2013

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Social outcomes in mid- to later adulthood among individuals diagnosed with autism and average nonverbal IQ as children.
Patricia Howlin, Philippa Moss, Sarah Savage, Michael Rutter

J Am Acad Child Adolesc Psychiatry· June 2013

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