Last Updated: 09/26/2026
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Found 110 publications
Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes.
Journal: NPJ genomic medicine
Published: September 24, 2025
An integrated cardiometabolic genetic testing program in a predominantly Hispanic population within a community setting.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 09, 2025
The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics.
Journal: American journal of human genetics
Published: May 07, 2025
The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics.
Journal: medRxiv : the preprint server for health sciences
Published: February 20, 2025
Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth.
Journal: Prenatal diagnosis
Published: December 25, 2024
Anaplastic meningioma in a 6-year-old with somatic YAP1::MAML2 fusion and multiple endocrine neoplasia type 4 (MEN4) syndrome.
Journal: Cancer genetics
Published: October 24, 2024
Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study.
Journal: JCO precision oncology
Published: September 11, 2024
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Journal: Frontiers in genetics
Published: August 31, 2024
Clinical validation of RNA sequencing for Mendelian disorder diagnostics.
Journal: American journal of human genetics
Published: August 19, 2024
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.
Journal: NEJM AI
Published: July 04, 2024
CffDNA screening for Niemann-pick disease, type C1: a case series.
Journal: Frontiers in medicine
Published: February 23, 2024
Last Updated: 09/26/2026