Laura Scarimbolo
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View article: Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study
Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study Open
Introduction: Telehealth genetic counseling is comparable to in-person visits in terms of satisfaction, knowledge, and psychological outcomes, but using visual aids can be challenging on telehealth platforms. This pilot study assessed if t…
View article: P588: Comparison of high polygenic risk score for hypercholesterolemia and familial hypercholesterolemia risk in the eMERGE IV study
P588: Comparison of high polygenic risk score for hypercholesterolemia and familial hypercholesterolemia risk in the eMERGE IV study Open
View article: Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population
Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population Open
View article: The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families Open
View article: The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families Open
Background Digital solutions are needed to support rapid increases in the application of genetic and genomic tests (GT) in diverse clinical settings and patient populations. We developed GUÍA, a bi-lingual web-based platform that facilitat…
View article: Identification of copy number variants with genome sequencing: Clinical experiences from the <scp>NYCKidSeq</scp> program
Identification of copy number variants with genome sequencing: Clinical experiences from the <span>NYCKidSeq</span> program Open
Copy number variations (CNVs) play a significant role in human disease. While chromosomal microarray has traditionally been the first‐tier test for CNV detection, use of genome sequencing (GS) is increasing. We report the frequency of CNVs…
View article: P318: Impact of genetic counseling using GUÍA on diverse families’ understanding of genomic results: Finding from the NYCKidSeq randomized controlled trial*
P318: Impact of genetic counseling using GUÍA on diverse families’ understanding of genomic results: Finding from the NYCKidSeq randomized controlled trial* Open
View article: P245: GUÍA application: Effectiveness in enhancing communication of genomic results in diverse, multilingual populations*
P245: GUÍA application: Effectiveness in enhancing communication of genomic results in diverse, multilingual populations* Open