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American Journal of Medical Genetics. Part A|April 28, 2017
A case of familial transmission of the newly described DNMT3A-Overgrowth SyndromeGabrielle Lemire, Julie Gauthier, Jean-François Soucy, et al.Frontiers in Rehabilitation Sciences|February 3, 2025
Preliminary development and evaluation of a mechanical handwriting assistive device to support individuals with movement disordersGabrielle Lemire, Thierry Laliberté, Katia Turcot, et al.Annual Review of Genomics and Human Genetics|April 15, 2020
New Diagnostic Approaches for Undiagnosed Rare Genetic DiseasesTaila Hartley, Gabrielle Lemire, Kristin D Kernohan, et al.Journal of Pediatric Neurology : JPN|March 14, 2024
DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxiaAlexander S Wang, Gabrielle Lemire, Grace E VanNoy, et al.American Journal of Medical Genetics. Part A|November 4, 2022
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experienceGrace Uwaila Ediae, Gabrielle Lemire, Caitlin Chisholm, et al.Nature Communications|November 4, 2023
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasiaOphélie Gourgas, Gabrielle Lemire, Alison J Eaton, et al.American Journal of Human Genetics|September 6, 2022
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disabilityYan Huang, Gabrielle Lemire, Lauren C Briere, et al.American Journal of Human Genetics|July 6, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomaliesGabrielle Lemire, Aren E Marshall, Tejan S Patel, et al.American Journal of Human Genetics|August 22, 2020
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and EpilepsyJonathan Humbert, Smrithi Salian, Periklis Makrythanasis, et al.American Journal of Medical Genetics. Part A|June 19, 2021
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasiaGabrielle Lemire, Bixia Zheng, Grace U Ediae, et al.Pageof 5