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Publication
Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder
European Child & Adolescent Psychiatry -
Publication
Consanguineous couple with SDHD gene mutations: Diagnosis, treatment, and implications of family genetic testing
Clinical Case Reports -
Publication
Examining the communication work of women who have tested BRCA-positive: "I feel this responsibility to let people know"
Journal of Genetic Counseling -
Publication
Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation
Research in Developmental Disabilities -
Publication
Data stewardship in FTLD research: Investigator and research participant views
Alzheimer's & Dementia -
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Publication
Translational research and health equity: Gene therapies for sickle cell disease as a case study
Ethics & Human Research -
Publication
Ethical and social implications of public-private partnerships in the context of genomic/big health data collection
European Journal of Human Genetics