Last Updated: 09/26/2026
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Found 24 publications
ACMG Medical Directors' Special Interest Group survey: Current challenges for medical genetics clinics.
Journal: Genetics in medicine open
Published: December 10, 2025
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.
Journal: Circulation. Genomic and precision medicine
Published: November 05, 2025
Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.
Journal: American journal of medical genetics. Part A
Published: September 25, 2024
Atypical Bilateral and Unilateral Vocal Cord Paralysis in Two Neonates With Williams Syndrome.
Journal: Case reports in pediatrics
Published: August 03, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: April 23, 2024
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Journal: Neurology
Published: January 02, 2024
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Journal: American journal of human genetics
Published: May 25, 2023
Question prompt lists and caregiver question asking in pediatric specialty appointments: A randomized controlled trial.
Journal: Patient education and counseling
Published: October 07, 2022
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Journal: PLoS genetics
Published: March 24, 2022
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Journal: American journal of human genetics
Published: January 08, 2021
DLG4-related synaptopathy: a new rare brain disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 16, 2020
Last Updated: 09/26/2026