Independent Studies Projects
2014-2024
2024
Li, Miranda. Exploring the Impact of Receiving a Psychiatric Assessment for Patients with NF1
Melvill, Kenzie. Evaluation of the association between the DNA fragmentation index (DFI) and the frequency of segmental aneuploidies
Rokoszak, Vanessa. Doing no Harm: Exploring the psychosocial impacts of receiving secondary findings from whole exome sequencing
White, Ashley. Coping with unexplained recurrent pregnancy loss: An examination into the psyche, lived experience and perceived resilience of affected women
White-Brown, Alexandre. Harnessing AI for Early Identification of Rare Genetic Diseases: How 'ThinkRare' will Transform Genetic Testing Referrals
2023
D’Souza, Yasmin. Genetic Basis of Inherited Retinal Dystrophy in Montreal, Quebec: A Large Cohort Study from a Single Genetics Service over a 6‐year Period
Fontaine, Myriam. Does the Prospect of a Clinical Trial Impact Decision-Making for Predictive Genetic Testing for Familial Amyotrophic Lateral Sclerosis (fALS)?
Kawar, Joud. Evaluation of the Perceived Benefits and Barriers to Oncology-Initiated Genetic Testing
by Oncologists in Quebec
Lessard, Mathieu. Diagnostic Yield of Exome Reanalysis in 10 Patients with Suspected Rare Genetic Disease and Unsolved Phenotypes
MacDonald, Stella. Exploring Interpretations of a Negative Genetic Test Result for Men with Prostate Cancer Receiving a Mainstream Model of Care: A Qualitative Study
2022
Chu, Valerie 
Chu V et al. 2023. The LGBTGC Student Experience: A Qualitative Study Exploring LGBTQ2S+ Genetic Counselling Students’ Relationships with Peers and Faculty in Graduate School
Dang, Vi-An. Thinking About Disability in Genetic Counselling Programs
Ediae, Grace. ‘ThinkRare’ - Exploring the Use of Artificial Intelligence to Identify Patients with Undiagnosed Rare Genetic Disease
Feng, Leila. Assessing the Needs for a Mobile App for Individuals Living Remotely with Pediatric-Onset Cancer Predisposition Syndromes
Horowitz, Kayla horowitz_et_al._2024.pdf. Parents of Intersex Children/Children with Variations of Sexual Characteristics (VSC): Perspectives on Psychosocial Education & Support Needs
- NSGC Podcast episode featuring Kayla Horowitz: "Advocating for the Intersex Community: How to Begin Dismantling a History of Harm"
2021
Atayan, Adrienne. Assessing the education of genetic counsellors and students regarding intersex healthcare
Bercovitch Sadinsky, Michaela. Patient Experience of a Gynecologic Oncology Initiated Genetic Testing Model for Patients with High Grade Non-Mucinous Epithelial Ovarian Cancer
Dooley, Sean. Refining the Phenotypic and Cytogenetic Features of a Recently Described 16p13.3 Microdeletion Syndrome
Fotopoulos, Nellie. Bridging the Gap between Clinical Genetics & Psychiatry: Investigation on Perceptions and Genetic Literacy in Mental Health Professionals
Rojas, Samantha. Genetic Counselling Outside of the Genetics Clinic: Where are we now?
2020
Adjei, Pamela. Twice the reason: both genetic status and gender affirmation justify preventive surgery in female-to-male persons with inherited susceptibility to cancer
Castrataro, Connor. A Study of the Diagnostic Potential of Next-Generation Sequencing for CFTR in the Quebec Population
Enns, Emily. Enns E et al. 2021. Far and Wide: Provider uptake and acceptability of remote service provision for genome-wide sequencing in Canada. A substudy of the GenCOUNSEL Study
Hebert, Robyn. Performance of an eHealth decision support tool (MIPOGG) for identifying children with constitutional mismatch repair deficiency, DICER1 syndrome, Gorlin syndrome and Li-Fraumeni syndrome
Mistry, Alana. The role of private sector genetic counsellors in discussing the non-clinical uses of genetic information
Thomas, Marie-Jacqueline. Genetic knowledge recall and carrier status retention following carrier testing using an interactive online module in two unique populations
2019
Alexandre, Jennyphane. Genetic counsellors’ comfort level and practices in discussing clinical trials for ocular genetic disorders with patients
Ells, Courtney. Peer Group Supervision Practices Among Canadian Genetic Counsellors
Hudon, Catherine. Apparently Isolated Mild Fetal Ventriculomegaly: A Scoping Review and Recommendations for Future Research
Lawrence, Jessica. MMR Universal Screening of all newly diagnosed endometrial cancers:
The MUSE Project - A retrospective analysis of universal MMR screening at the MUHC
McAdam, Alexa. Identification of a possible founder pathogenic GLDN variant associated with “lethal” arthrogryposis in Canadian Inuits: Implications for long-term survival and maternal health
2018
Morgan, Amanda. Addressing Barriers for Rapid Cancer Genetic Counselling: Triage System for Treatment-Focused Genetic Testing.
Levy, Tess. Fetal Sex Discordance by Non-Invasive Prenatal Testing: Current Practices and Possible Explanations.
Varin-Tremblay, Camille. Lived Experiences of Young Adults with Down Syndrome and their Parents: A Pilot Study.
2017
Dale, Breanne. NF1 and Me: What late adolescents need to know and what they have to say about their health, privacy and social life.
El Helou, Janine. A pilot study to implement psychiatric genetic counselling at the Depressive Disorders Program, Douglas Mental Health University Institute.
Harper, Patricia. Assessment of a Potential Meckel-Gruber Founder Mutation in a Canadian Aboriginal Population.
Shaevtich, Dana. Should Genetic Counsellors have a Duty to Warn At-Risk Relatives of their Genetic Risk? The Lived-Experiences, Practices and Opinions of Genetic Counsellors in Canada Regarding Non-Consensual Disclosure of Clinically Significant Genetic Test Resul.
2016
Jensen, Kim. Identifying predictors of psychiatric disease in individuals who carry recurrent copy-number variations (CNVs).
Nguyen, Thi. Recurrence risk for autism spectrum disorder: A systematic review and perspectives for genetic counselling.
Pirjamali, William. Informed consent practices with whole exome sequencing.
Robertson, Carleigh. The experiences of transgender individuals in cancer genetic counselling:
A qualitative investigation.
2015
Fan, Charity. Lysanne C et al. 2018 The Evaluation of an Interactive Computer-Based Educational Module for Carrier Screening in Individuals of Ashkenazi Jewish Descent: Data Collection, Analysis, and Clinical Implications.
Rae, Sonya. Is there a Duty to Warn At-risk Relatives of their Genetic Risk? A Legal Analysis and Survey of Canadian Genetic Counselling Practices Surrounding Non-Consensual Disclosure.
Silva-Smith, Rachel. Intrafamilial Communication about Hereditary Breast and Ovarian Cancer Syndrome in Orthodox Jewish Families: Development of an Exploratory Qualitative Study.
Thomas, Sonia. The factors associated with elective termination of pregnancy of fetuses with congenital diaphragmatic hernia in Canada: An 8-year analysis of the CAPSNet data.
2014
Canales, Karen. Development of a genetic counselling resource describing genetic discrimination in the Canadian context.
Dempsey-Nunez, Laura. Genetic contribution and perceived causes for cancer in women diagnosed with synchronous ovarian and endometrial cancer.
Rummell, Sonja. Lysanne C et al. 2018 Designing a study to evaluate the efficacy of a web-based educational module prior to carrier-screening in individuals of Ashkenazi descent
Schiavi, Alicia. Assessing the use of a family history screening tool in a clinic-based sample of adult patients with sarcoma.
Previously published
Sillon G, Drury S et. al. 2004The incidence and carrier frequency of Tay-Sachs disease in the French-Canadian population of Quebec based on retrospective data from 24 years, 1992–2015.
Loder et al. 2009 Spinal Hamartoma with Severe Kyphoscoliosis - A rare case of spinal mass in a fetus.
Vanneste et al. 2013Effects of second language usage on Genetic Counseling training and supervision.
Lane M, Ngueng Feze I and Joly Y (2015) Genetics and Personal Insurance: the Perspectives of Canadian Cancer Genetic Counselors
Lysanne C et al. 2018Online module for Carrier Screening in Ashkenazi Jewish individuals compared with in-person genetics education: A randomized controlled trial.