Last Updated: 09/26/2026
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Found 15 publications
From bench to bedside: a spotlight on pharmacogenomics at Nemours Children's Health.
Journal: Pharmacogenomics
Published: July 29, 2025
Pharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases.
Journal: Clinical and translational science
Published: June 17, 2025
Pharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases.
Journal: Clinical and translational science
Published: June 17, 2025
Preferences for implementing pharmacogenomics in pediatric primary care: a discrete choice experiment.
Journal: Pediatric research
Published: December 20, 2024
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Journal: American journal of medical genetics. Part A
Published: March 23, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Journal: Science advances
Published: March 10, 2023
Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics.
Journal: Clinical pharmacology and therapeutics
Published: April 01, 2021
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
Journal: Journal of medical genetics
Published: June 26, 2019
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 24, 2018
Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I.
Journal: The Annals of otology, rhinology, and laryngology
Published: September 13, 2014
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 12, 2014
Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
Journal: Diabetes
Published: May 23, 2014
Last Updated: 09/26/2026