Courtney E. French

Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 28 publications

RESCUE: An end-to-end multi-agent LLM system for proactive rare-disease patient screening in the EHR.

RESCUE: An end-to-end multi-agent LLM system for proactive rare-disease patient screening in the EHR.

Journal: medRxiv : the preprint server for health sciences

Published: July 10, 2026

RESCUE: An end-to-end multi-agent LLM system for proactive rare-disease patient screening in the EHR.

RESCUE: An end-to-end multi-agent LLM system for proactive rare-disease patient screening in the EHR.

Journal: medRxiv : the preprint server for health sciences

Published: July 10, 2026

Genetic sequencing of children with malrotation and midgut volvulus: A cross-sectional study.

Genetic sequencing of children with malrotation and midgut volvulus: A cross-sectional study.

Journal: JPGN reports

Published: January 05, 2026

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.

Journal: HGG advances

Published: November 02, 2025

Common and rare genetic variants explain distinct diagnostic variance in pediatric attention deficit hyperactivity disorder.

Common and rare genetic variants explain distinct diagnostic variance in pediatric attention deficit hyperactivity disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 09, 2025

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.

Journal: Neurology

Published: December 19, 2024

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

Journal: NPJ genomic medicine

Published: March 27, 2024

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Journal: Annals of neurology

Published: August 24, 2023

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.

Journal: JAMA network open

Published: July 20, 2023

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

Journal: American journal of human genetics

Published: March 13, 2023

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.

Journal: JAMA neurology

Published: March 07, 2022

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

Journal: HGG advances

Published: January 25, 2022

Showing 1-12 of 28

Last Updated: 09/26/2026