Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 136 publications
From roadmap to a sustainable end-to-end individualized therapy pathway.
Journal: Therapeutic advances in rare disease
Published: November 28, 2024
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap.
Journal: Nature reviews. Drug discovery
Published: September 19, 2024
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.
Journal: Annals of clinical and translational neurology
Published: May 21, 2024
Parent and patient knowledge and attitudes about cancer predisposition syndrome genetic testing in pediatric oncology: Understanding sociodemographic and parent-child differences.
Journal: Cancer reports (Hoboken, N.J.)
Published: January 04, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Journal: Frontiers in pediatrics
Published: December 05, 2023
Correction to: The evolution of the mitochondrial disease diagnostic odyssey.
Journal: Orphanet journal of rare diseases
Published: July 20, 2023
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
Journal: The New England journal of medicine
Published: May 31, 2023
Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.
Journal: Frontiers in pediatrics
Published: February 02, 2023
Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining.
Journal: Clinical therapeutics
Published: January 26, 2023
Last Updated: 09/26/2026