Area of research
Genetics · Clinical Biochemistry
Research interest
Research interests include Genomics and Rare Diseases, BRCA gene mutations in cancer, Metabolism and Genetic Disorders, and Genomic variations and chromosomal abnormalities.
The Progress and Future of US Newborn Screening
Newborn screening for neurodevelopmental diseases: Are we there yet?
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
The 2019 US medical genetics workforce: a focus on clinical genetics
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)
Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future
Including ELSI research questions in newborn screening pilot studies
Foundation of the Newborn Screening Translational Research Network and its tools for research
Newborn Sequencing in Genomic Medicine and Public Health
Creating a data resource: what will it take to build a medical information commons?
Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23–26 February 2014
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
ClinGen — The Clinical Genome Resource
Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
Reporting genomic secondary findings: ACMG members weigh in
Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism
Enhanced interpretation of newborn screening results without analyte cutoff values