Search Results - "Miller, Ilana"

The PrU: Development and validation of a measure to assess personal utility of genomic results by Turbitt, Erin, Kohler, Jennefer N., Angelo, Frank, Miller, Ilana M., Lewis, Katie L., Goddard, Katrina A.B., Wilfond, Benjamin S., Biesecker, Barbara B., Leo, Michael C.

“…People report experiencing value from learning genomic results even in the absence of clinically actionable information. Such personal utility has emerged as a…”
Get full text

P875: Home-based call: Description of the sleep impacts on geneticists and metabolists and creation of RareCap, a workforce support innovation by Regier, Debra, Quintana, Kiley, Miller, Ilana, Burkardt, Deepika

Get full text

The impact of home-based call on sleep patterns and wellness in genetics and metabolism physicians compared with subspecialists by Quintana, Kiley Boone, Miller, Ilana, Regier, Debra S.

“…With increases in precision medicine initiatives and genetically defined rare diseases, the genetics and metabolism workforce is necessary to provide…”
Get full text

Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial by Lewis, Katie L., Umstead, Kendall L., Johnston, Jennifer J., Miller, Ilana M., Thompson, Lydia J., Fishler, Kristen P., Biesecker, Leslie G., Biesecker, Barbara B.

“…In-person education and counseling for all people receiving genetic results is the predominant model of disclosure but is challenged by the growing volume of…”
Get full text

Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq® cohort by Lewis, Katie L., Heidlebaugh, Alexis R., Epps, Sandra, Han, Paul K. J., Fishler, Kristen P., Klein, William M. P., Miller, Ilana M., Ng, David, Hepler, Charlotte, Biesecker, Barbara B., Biesecker, Leslie G.

“…Purpose Racial minority populations are underrepresented in genomics research. This study enrolled African-descended individuals in a sequencing study and…”
Get full text

Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes by Miller, Ilana M., Lewis, Katie L., Lawal, Tokunbor A., Ng, David, Johnston, Jennifer J., Biesecker, Barbara B., Biesecker, Leslie G.

“…Purpose Studies on returning variants of uncertain significance (VUS) results have predominantly included patients with a personal or family history of cancer…”
Get full text

Managing the need to tell: Triggers and strategic disclosure of thalassemia major in Singapore by Kumar, Neha, Turbitt, Erin, Biesecker, Barbara B., Miller, Ilana M., Cham, Breana, Smith, Katherine C., Rimal, Rajiv N.

“…This study explored patients' experiences and perceptions of living with thalassemia (an inherited hematologic disorder), perceptions of social stigma, and…”
Get full text

Perceptions of uncertainties about carrier results identified by exome sequencing in a randomized controlled trial by Umstead, Kendall L, Han, Paul K J, Lewis, Katie L, Miller, Ilana M, Hepler, Charlotte L, Thompson, Lydia J, Wolfsberg, Tyra G, Nguyen, Anh-Dao, Fredriksen, Mark T, Gibney, Gretchen, Turbitt, Erin, Biesecker, Leslie G, Biesecker, Barbara B

“…Abstract How individuals perceive uncertainties in sequencing results may affect their clinical utility. The purpose of this study was to explore perceptions…”
Get full text

Recessive GCH1 Deficiency Causing DOPA-Responsive Dystonia Diagnosed by Reported Negative Exome by Berger, Seth I, Miller, Ilana, Tochen, Laura

“…An exome sequencing result on a child with atypical gait was reported as negative; follow-up biochemical evaluation and reanalysis led to diagnosis of…”
Get full text

eP004: Screening for metabolic abnormalities in a cohort of patients with hypermobility by Boone, Kiley, Pomorski, Gabrielle, Miller, Ilana, Regier, Debra, Chapman, Kimberly

Get full text

NEGATIVE SCREENING RESULTS FOR METABOLIC ABNORMALITIES IN A COHORT OF PATIENTS WITH HYPERMOBILITY by Boone, Kiley, Pomorski, Gabrielle, Miller, Ilana, Regier, Deb, Chapman, Kimberly A.

Get full text

Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy by Fortin, Olivier, Christoffel, Kelsey, Kousa, Youssef, Miller, Ilana, Leon, Eyby, Donoho, Kelsey, Mulkey, Sarah B, Anwar, Tayyba

“…Inborn errors of metabolism are a diverse group of genetic disorders including many that cause neonatal-onset epilepsy such as pyridoxine-dependent epilepsy…”
Get full text

Health Behaviors Amongst Unaffected Participants Following Receipt of Variants of Uncertain Significance in Cardiomyopathy-Associated Genes by Miller, Ilana M., Lewis, Katie L., Lawal, Tokunbor A., Ng, David, Johnston, Jennifer J., Biesecker, Barbara B., Biesecker, Leslie G.

Get full text

Improving access to cancer genetic services: perspectives of high-risk clients in a community-based setting by Miller, Ilana, Greenberg, Samantha, Yashar, Beverly M., Marvin, Monica L.

“…Cancer genetic services are underutilized by high-risk clients in community-based health settings. To understand this disparity, 108 Planned Parenthood…”
Get full text

Cultural aspects of resiliency in the case of political violence: Reflections of Israeli young adults by Miller, Amy Ilana

“…This study explores the relationship between resilience and culture in the case of political violence in Israel. Unstructured interviews were conducted with 10…”
Get full text