selected publications
- Demographic Composition of Participants in Sex Chromosome Aneuploidy Studies Across the Globe: A 20-Year Systematic Review. American journal of medical genetics. Part A. 2025 Academic Article GET IT
- Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Methods, and Diagnostic Characteristics for the GALAXY Registry. American journal of medical genetics. Part A. 2025 Academic Article GET IT
- Demographic Composition of Participants in Sex Chromosome Aneuploidy Studies across the Globe: a 20-year Systematic Review. 2025 GET IT
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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.
JAMA.
2025
Academic Article
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Times cited: 59 -
Identification of a novel homozygous missense mutation in the Phospholipase C, delta-1 gene associated with leukonychia in a Middle Eastern patient.
2023
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Times cited: 2 -
Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
Annals of clinical and translational neurology.
2023
Academic Article
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Times cited: 28 -
Natural history variations for neuronal ceroid lipofuscinosis type 2: In support of newborn screening.
Epilepsia.
2023
Letter
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Times cited: 1 -
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: 10 -
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: 43 -
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: 121 -
Psychological stress associated with cardiogenetic conditions.
Personalized medicine.
2014
Academic Article
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Times cited: 15 -
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: 19 -
An interdisciplinary approach to personalized medicine: case studies from a cardiogenetics clinic.
Personalized medicine.
2013
Academic Article
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Times cited: 24 -
Challenges of genetic testing in adolescents with cardiac arrhythmia syndromes.
Journal of medical ethics.
2011
Academic Article
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Times cited: 20 -
Racial/ethnic disparities in hospice care: a systematic review.
Journal of palliative medicine.
2008
Academic Article
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Times cited: 131