Last Updated: 09/26/2026
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Found 74 publications
Lessons from clinical and genetic characterization of intellectual disability.
Journal: Developmental medicine and child neurology
Published: February 28, 2026
ACMG Medical Directors' Special Interest Group survey: Current challenges for medical genetics clinics.
Journal: Genetics in medicine open
Published: December 10, 2025
Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 09, 2025
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Journal: Rare (Amsterdam, Netherlands)
Published: October 18, 2024
Association of Left Ventricular Summit Arrhythmias With Pathogenic Genetic Variants.
Journal: JACC. Clinical electrophysiology
Published: October 15, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Journal: American journal of medical genetics. Part A
Published: September 08, 2024
Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 02, 2024
Chromosomal translocation resolves a diagnostic odyssey for familial Ruvalcaba syndrome.
Journal: American journal of medical genetics. Part A
Published: March 29, 2024
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.
Journal: bioRxiv : the preprint server for biology
Published: October 09, 2023
Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.
Journal: GeroScience
Published: July 21, 2023
Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases.
Journal: NPJ genomic medicine
Published: March 14, 2023
Last Updated: 09/26/2026