Andrea Guerin
Kingston, ON, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 36 publications
Genomic testing for bleeding disorders (GT4BD): protocol for a randomised controlled trial evaluating the introduction of whole genome sequencing early in the diagnostic pathway for patients with inherited bleeding disorders as compared with standard of care.
Journal: BMJ open
Published: April 17, 2025
How genetic advances are being translated into improved diagnostic outcomes for patients with inherited bleeding disorders.
Journal: Blood vessels, thrombosis & hemostasis
Published: February 25, 2025
Mainstreaming of clinical genetic testing: A conceptual framework.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 15, 2025
An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.
Journal: Nature
Published: December 10, 2024
The Impact of the COVID-19 Pandemic on Prenatal Screening Modality for Singleton Pregnancies in Ontario.
Journal: Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC
Published: July 25, 2024
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Journal: American journal of human genetics
Published: December 08, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Journal: American journal of medical genetics. Part A
Published: September 29, 2023
Title Not Found
Journal: CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne
Published: June 05, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 21, 2023
Ensuring timely genetic diagnosis in adults.
Journal: CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne
Published: April 18, 2023
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Journal: Clinical genetics
Published: September 25, 2022
Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome.
Journal: Frontiers in genetics
Published: June 30, 2022
Last Updated: 09/26/2026