Rachel Y. Oh
Toronto, ON, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 19, 2025
Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.
Journal: Journal of medical genetics
Published: October 03, 2024
Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti.
Journal: The British journal of dermatology
Published: September 16, 2024
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Journal: HGG advances
Published: July 11, 2023
De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).
Journal: American journal of medical genetics. Part A
Published: November 13, 2022
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 06, 2022
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.
Journal: American journal of medical genetics. Part A
Published: June 28, 2021
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.
Journal: American journal of medical genetics. Part A
Published: May 28, 2021
Showing 1-8 of 8
Last Updated: 09/26/2026