Last Updated: 09/26/2026
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Found 60 publications
Interpretable Fine-tuned Large Language Models Facilitate Making Genetic Test Decisions for Rare Diseases.
Journal: medRxiv : the preprint server for health sciences
Published: March 23, 2026
The 9th International RASopathies Symposium.
Journal: American journal of medical genetics. Part A
Published: February 25, 2026
SHOC2 Is a Novel Cause of Central Conducting Lymphatic Anomaly.
Journal: American journal of medical genetics. Part A
Published: January 30, 2026
Somatic Genetic Testing Provides Diagnosis of Verrucous Venous Malformation in an Individual with Discrepant Radiology, Pathology, and Clinical Findings.
Journal: Journal of vascular anomalies
Published: January 26, 2026
Interpretable fine-tuned large language models facilitate making genetic test decisions for rare diseases.
Journal: NPJ digital medicine
Published: October 02, 2025
Workforce Shortage of Pediatric Dermatologists: A Medical Student's Perspective.
Journal: Cutis
Published: July 01, 2025
Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies.
Journal: American journal of medical genetics. Part A
Published: May 07, 2025
Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF Variant.
Journal: Pediatric blood & cancer
Published: March 21, 2025
Unusual Presentation of Coronary Artery Fistula in Capillary Malformation Arteriovenous Malformation 2 Syndrome: A Case Report.
Journal: American journal of medical genetics. Part A
Published: November 04, 2024
A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses.
Journal: American journal of medical genetics. Part A
Published: September 05, 2024
Central conducting lymphatic anomaly: from bench to bedside.
Journal: The Journal of clinical investigation
Published: April 15, 2024
Last Updated: 09/26/2026