Publications
2026
Selection of genetic conditions for multi-state genomic newborn screening in BEACONS-NBS
Note: The BEACONS-NBS study has been renamed BRIDGES-NBS.
medRxiv
In Press
Recommendations for return of secondary genomic findings in observational cohort studies
Nature Genetics
September 2026
Patient and primary care clinician perspectives on polygenic risk scores for prostate cancer screening: a national qualitative study
Genetics in Medicine
August 2026
Development and pilot testing of a prostate cancer polygenic risk report
BMC Medical Genetics
July 2026
Genomic newborn screening: A scoping review of the field’s evolution and associated ethical, legal, and social implications
European Journal of Human Genetics
May 2026
Contributions of the Alzheimer’s Disease Neuroimaging Initiative to advancing AD research: A targeted review of recent publications
Alzheimer's and Dementia
May 2026
Navigating data sharing in research
American Journal of Human Genetics
April 2026
Designing inclusive newborn sequencing research: Insights from parents in underrepresented communities
BMC Medical Genetics
March 2026
Navigating ethical, legal and social implications in genomic newborn screening
Nature Reviews Genetics
February 2026
Genomic risk model to implement precision prostate cancer screening in clinical care: theProGRESS study
Nature Cancer
January 2026
Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot
Nature Health
January 2026
2025
Genetics and context for precision health in Greater Boston
Nature Communications
November 2025
A lack of information about family health history motivates adopted individuals to pursue elective genomic testing
American Journal of Medical Genetics
November 2025
Governance strategies for biological AI: Beyond the dual-use dilemma
Trends in Biotechnology
October 2025
Are inherited metabolic disorders more common and less predictable than we thought?
Journal of Inherited Metabolic Diseases
September 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Genetics in Medicine
May 2025
Nonadherence to guidelines for genetic testing in families with ovarian cancer shows racial bias
Genetics In Medicine
April 2025
Advancing precision care in pregnancy through a treatable fetal findings list
American Journal of Human Genetics
April 2025
Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns
Journal of Genetic Counseling
April 2025
Critical bottlenecks in rare disease research and care: A community perspective
Zenodo
February 2025
2024
Family genetic risk communication and cascade testing in the BabySeq Project
Genetics in Medicine
December 2024
Overview of Alzheimer’s Disease Neuroimaging Initiative and future clinical trials
Alzheimer's and Dementia
December 2024
Long-term health outcomes of individuals with pseudodeficiency alleles in IDUA may inform newborn screening practices for mucopolysaccharidosis type I
American Journal of Medical Genetics: Part A
November 2024
The ADNI Administrative Core: Ensuring ADNI’s success and informing future AD clinical trials
Alzheimer's and Dementia
November 2024
Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders
Genetics in Medicine
September 2024
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants
American Journal of Human Genetics
September 2024
Defining and pursuing diversity in human genetic studies
Nature Genetics
September 2024
Genetic counselors’ perspectives on genomic screening of apparently healthy newborns
Genetics in Medicine Open
August 2024
Primary care providers’ experiences with an active elective genetic testing program
Journal of Health Education and Behavior | PMID: 39081055
July 2024








































