Last Updated: 09/26/2026
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Found 83 publications
Multi-modal recruitment efficiency in ScreenPlus, a large-scale consented pilot NBS program.
Journal: medRxiv : the preprint server for health sciences
Published: July 10, 2026
Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results.
Journal: Journal of inherited metabolic disease
Published: January 08, 2026
Patient and providers' perspectives on using the GUÍA digital tool to enhance genomic results disclosure.
Journal: Genetics in medicine open
Published: March 07, 2025
Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.
Journal: Hepatology communications
Published: August 06, 2024
Investigating the Impact of Screen-Sharing Visual Aids during Genomic Results Disclosure via Telehealth in Diverse Families in the TeleKidSeq Pilot Study.
Journal: Public health genomics
Published: July 10, 2024
Physician and informal care use explained by the Pediatric Quality of Life Inventory (PedsQL) in children with suspected genetic disorders.
Journal: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation
Published: May 01, 2024
Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.
Journal: American journal of human genetics
Published: April 18, 2024
ScreenPlus: A comprehensive, multi-disorder newborn screening program.
Journal: Molecular genetics and metabolism reports
Published: December 05, 2023
Using team-based precision medicine to advance understanding of rare genetic brain disorders.
Journal: Journal of neurodevelopmental disorders
Published: October 06, 2023
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families.
Journal: medRxiv : the preprint server for health sciences
Published: July 18, 2023
Last Updated: 09/26/2026