selected publications
- Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions. JAMA. 2024 Academic Article GET IT
- Identification of a novel homozygous missense mutation in the Phospholipase C, delta-1 gene associated with leukonychia in a Middle Eastern patient. 2023 GET IT
- 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
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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
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Times cited: 8 -
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
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Times cited: 1 -
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
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Times cited: 51 - Psychological stress associated with cardiogenetic conditions. Personalized medicine. 2014 Academic Article GET IT
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Translating advances in cardiogenetics into effective clinical practice.
Qualitative health research.
2014
Academic Article
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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
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Times cited: 18 - An interdisciplinary approach to personalized medicine: case studies from a cardiogenetics clinic. Personalized medicine. 2013 Academic Article GET IT
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Challenges of genetic testing in adolescents with cardiac arrhythmia syndromes.
Journal of medical ethics.
2011
Academic Article
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Times cited: 19 -
Racial/ethnic disparities in hospice care: a systematic review.
Journal of palliative medicine.
2008
Information Resource
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Times cited: 131