Last Updated: 09/26/2026
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Found 73 publications
Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing.
Journal: medRxiv : the preprint server for health sciences
Published: May 07, 2026
Implementation of a Traceback Testing Program for Ovarian Cancer: Findings from the FACTS Study.
Journal: Cancers
Published: January 28, 2025
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Journal: Rare (Amsterdam, Netherlands)
Published: October 18, 2024
"I Didn't Have to Worry about It": Patient and Family Experiences with Health System Involvement in Notifying Relatives of Genetic Test Results.
Journal: Public health genomics
Published: April 19, 2024
Health System-Led Early Consent and Direct Contact of At-Risk Relatives: Pilot Study Results.
Journal: Public health genomics
Published: April 19, 2024
Genetic predictors of blood pressure traits are associated with preeclampsia.
Journal: Scientific reports
Published: November 08, 2023
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Journal: Epilepsia
Published: October 13, 2023
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.
Journal: bioRxiv : the preprint server for biology
Published: October 09, 2023
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Journal: American journal of human genetics
Published: July 05, 2023
Last Updated: 09/26/2026