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Nature Genetics|November 29, 2005
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC typeJordan P Lerner-Ellis, Jamie C Tirone, Peter D Pawelek, et al.Nature Communications|February 26, 2021
Lentivirus-mediated gene therapy for Fabry diseaseAneal Khan, Dwayne L Barber, Ju Huang, et al.Journal of Medical Genetics|May 22, 2023
A model for the return and referral of all clinically significant secondary findings of genomic sequencingRita Kodida, Emma Reble, Marc Clausen, et al.Brain : a Journal of Neurology|March 20, 2014
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcomePhilippa B Mills, Stephane S M Camuzeaux, Emma J Footitt, et al.BMJ Open|October 10, 2019
Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trialSalma Shickh, Marc Clausen, Chloe Mighton, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
LHX2 haploinsufficiency causes a variable neurodevelopmental disorderCosima M Schmid, Anne Gregor, Gregory Costain, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 12, 2024
Opportunistic genomic screening has clinical utility: An interventional cohort studyChloe Mighton, Rita Kodida, Salma Shickh, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2025
Opportunistic screening for broad range of medically relevant secondary findings: Laboratory benefits and burdensChloe Mighton, Emma Reble, Jordan Sam, et al.Journal of Medical Genetics|June 26, 2020
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort studySalma Shickh, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, et al.BMJ Open|March 27, 2026
Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational studyDaniel Assamad, Abigail Hansen, Katharine Fooks, et al.Pageof 35