E. Hallie Andrew
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View article: Using a chat-based informed consent tool in large-scale genomic research
Using a chat-based informed consent tool in large-scale genomic research Open
Objective We implemented a chatbot consent tool to shift the time burden from study staff in support of a national genomics research study. Materials and Methods We created an Institutional Review Board-approved script for automated chat-b…
View article: Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis Open
We evaluated the diagnostic yield using genome‐slice panel reanalysis in the clinical setting using an automated phenotype/gene ranking system. We analyzed whole genome sequencing (WGS) data produced from clinically ordered panels built as…
View article: The clinical and genetic spectrum of autosomal-recessive <i>TOR1A</i>-related disorders
The clinical and genetic spectrum of autosomal-recessive <i>TOR1A</i>-related disorders Open
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating ne…
View article: “Development and Implementation of Novel Chatbot-based Genomic Research Consent”
“Development and Implementation of Novel Chatbot-based Genomic Research Consent” Open
Objective To conduct a retrospective analysis comparing traditional human-based consenting to an automated chat-based consenting process. Materials and Methods We developed a new chat-based consent using our IRB-approved consent forms. We …
View article: De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism Open
View article: How do I treat when there is no treatment?
How do I treat when there is no treatment? Open
The majority of children in hospice care do not have cancer, but many have rare diseases. Thus, it is essential that rare disease specialists have a functioning knowledge of the palliative care system and its role in meeting the unique nee…