Search Results - "Aufox, Sharon"
-
1
A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility
Published in Journal of assisted reproduction and genetics (01-03-2022)“…Purpose Adult-onset disease risks associated with carriers of recessive disease have and will continue to be identified. As carrier screening becomes more…”
Get full text
Journal Article -
2
What women want: General population perspectives and access to preconception expanded carrier screening
Published in Prenatal diagnosis (01-08-2021)“…Objective Expanded carrier screening (ECS) assesses the risk of individuals and couples of having a child affected with a set of genetic conditions. Carriers…”
Get full text
Journal Article -
3
Participant choices for return of genomic results in the eMERGE Network
Published in Genetics in medicine (01-11-2020)“…Purpose Secondary findings are typically offered in an all or none fashion when sequencing is used for clinical purposes. This study aims to describe the…”
Get full text
Journal Article -
4
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network
Published in American journal of human genetics (01-10-2015)“…Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE variants, most commonly those resulting in p.Cys282Tyr…”
Get full text
Journal Article -
5
Practical Guidance on Informed Consent for Pediatric Participants in a Biorepository
Published in Mayo Clinic proceedings (01-11-2014)Get full text
Journal Article -
6
Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US
Published in American journal of human genetics (02-03-2017)“…Individuals participating in biobanks and other large research projects are increasingly asked to provide broad consent for open-ended research use and…”
Get full text
Journal Article -
7
rs4771122 Predicts Multiple Measures of Long-Term Weight Loss After Bariatric Surgery
Published in Obesity surgery (01-11-2015)“…We examined the association of 34 single nucleotide polymorphisms with weight loss up to 9.5 years after Roux-en-Y surgery. Participants were enrollees in the…”
Get full text
Journal Article -
8
Factors Associated With Long-Term Weight Loss Following Bariatric Surgery Using 2 Methods for Repeated Measures Analysis
Published in American journal of epidemiology (01-08-2015)“…We used electronic health record data from 162 patients enrolled in the NUgene Project (2002-2013) to determine demographic factors associated with long-term…”
Get full text
Journal Article -
9
Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network
Published in Journal of personalized medicine (13-05-2020)“…A challenge in returning genomic test results to research participants is how best to communicate complex and clinically nuanced findings to participants in a…”
Get full text
Journal Article -
10
What People Want to Know About Their Genes: A Critical Review of the Literature on Large-Scale Genome Sequencing Studies
Published in Healthcare (Basel) (08-08-2018)“…From a public health perspective, the "All of Us" study provides an opportunity to isolate targeted and cost-effective prevention and early-detection…”
Get full text
Journal Article -
11
Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions
Published in BMC medical research methodology (24-11-2016)“…As biobanks play an increasing role in the genomic research that will lead to precision medicine, input from diverse and large populations of patients in a…”
Get full text
Journal Article -
12
Parents' attitudes toward consent and data sharing in biobanks: A multisite experimental survey
Published in AJOB empirical bioethics (03-07-2018)“…Background: The factors influencing parents' willingness to enroll their children in biobanks are poorly understood. This study sought to assess parents'…”
Get full text
Journal Article -
13
eP353: Testing for Y chromosome in Turner syndrome
Published in Genetics in medicine (01-03-2022)Get full text
Journal Article -
14
The Impact of Family History on the Clinical Features of Huntington’s Disease (P4.042)
Published in Neurology (10-04-2018)“…Abstract only…”
Get full text
Journal Article -
15
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between
Published in American journal of human genetics (05-06-2014)“…As more research studies incorporate next-generation sequencing (including whole-genome or whole-exome sequencing), investigators and institutional review…”
Get full text
Journal Article -
16
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network
Published in American journal of human genetics (05-09-2019)“…The advancement of precision medicine requires new methods to coordinate and deliver genetic data from heterogeneous sources to physicians and patients. The…”
Get full text
Journal Article -
17
Comprehension and personal value of negative non‐diagnostic genetic panel testing
Published in Journal of genetic counseling (01-04-2021)“…Increasing interest and pursuit of genetic testing by the general public have raised concerns about their understanding and use of their results. While most…”
Get full text
Journal Article -
18
Great expectations: patient perspectives and anticipated utility of non-diagnostic genomic-sequencing results
Published in Journal of community genetics (01-01-2018)“…The management of secondary findings is a challenge to health-care providers relaying clinical genomic-sequencing results to patients. Understanding patients’…”
Get full text
Journal Article -
19
Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists
Published in Prenatal diagnosis (01-05-2014)“…ABSTRACT Objective To assess the clinical implementation of non‐invasive prenatal testing (NIPT) among maternal‐fetal medicine (MFM) specialists. Method…”
Get full text
Journal Article -
20
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing
Published in American journal of human genetics (02-11-2023)“…As large-scale genomic screening becomes increasingly prevalent, understanding the influence of actionable results on healthcare utilization is key to…”
Get full text
Journal Article