selected publications
- Newborn screening for Duchenne muscular dystrophy: A two-year pilot study. Annals of clinical and translational neurology. 2023 Academic Article GET IT
- Natural history variations for neuronal ceroid lipofuscinosis type 2: In support of newborn screening. Epilepsia. 2023 Letter GET IT
-
Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic.
International journal of neonatal screening.
2022
Academic Article
GET IT
Times cited: 28 -
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genetics in medicine : official journal of the American College of Medical Genetics.
2021
Academic Article
GET IT
Times cited: 16 -
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.
Genetics in medicine : official journal of the American College of Medical Genetics.
2017
Academic Article
GET IT
Times cited: 85 -
Psychological stress associated with cardiogenetic conditions.
Personalized medicine.
2014
Academic Article
GET IT
Times cited: 13 -
Translating advances in cardiogenetics into effective clinical practice.
Qualitative health research.
2014
Academic Article
GET IT
Times cited: 4 -
Motivation to pursue genetic testing in individuals with a personal or family history of cardiac events or sudden cardiac death.
Journal of genetic counseling.
2014
Academic Article
GET IT
Times cited: 17 -
An interdisciplinary approach to personalized medicine: case studies from a cardiogenetics clinic.
Personalized medicine.
2013
Academic Article
GET IT
Times cited: 24 -
Challenges of genetic testing in adolescents with cardiac arrhythmia syndromes.
Journal of medical ethics.
2011
Academic Article
GET IT
Times cited: 18 -
Racial/ethnic disparities in hospice care: a systematic review.
Journal of palliative medicine.
2008
Review
GET IT
Times cited: 153