Area of research
Genetics · Public Health, Environmental and Occupational Health
Research interest
Research interests include Genomics and Rare Diseases, BRCA gene mutations in cancer, Ethics in Clinical Research, and Genomic variations and chromosomal abnormalities.
Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association
Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants
Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns
Returning integrated genomic risk and clinical recommendations: The eMERGE study
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project
<i>SPTSSA</i> variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
Association of Prenatal Exposure to Maternal Drinking and Smoking With the Risk of Stillbirth
Concurrent prenatal drinking and smoking increases risk for SIDS: Safe Passage Study report
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project
Rethinking the “open future” argument against predictive genetic testing of children
Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project
FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation
The BabySeq project: implementing genomic sequencing in newborns
Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Newborn Sequencing in Genomic Medicine and Public Health
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
A curated gene list for reporting results of newborn genomic sequencing
Drinking and smoking patterns during pregnancy: Development of group-based trajectories in the Safe Passage Study
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network