Selected Publications

Academic Article

Year Title Altmetric
2019 Patients' reactions and follow-up testing decisions related to Tay-Sachs (HEXA) variants of uncertain significance resultsJournal of Genetic Counseling.  28:738-749. 2019
2019 Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohortMolecular Genetics and Genomic Medicine.  7:1-12. 2019
2017 Developmental trajectories for young children with 16p11.2 copy number variationAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  174:367-380. 2017
2016 Clinical phenotype of the recurrent 1q21.1 copy-number variantGenetics in Medicine.  18:341-349. 2016
2015 Creation of a National, At-home Model for Ashkenazi Jewish Carrier ScreeningJournal of Genetic Counseling.  24:381-387. 2015
2012 Direct-to-consumer personal genome testing and cancer risk predictionCancer Journal.  18:293-302. 2012
2006 Impact of neurofibromatosis 1 on quality of life: A cross-sectional study of 176 American casesAmerican Journal of Medical Genetics Part A.  140:1893-1898. 2006
2003 "Are We There Yet?": Deciding When One Has Demonstrated Specific Genetic Causation in Complex Diseases and Quantitative TraitsAmerican Journal of Human Genetics.  73:711-719. 2003

Full Name

  • Patricia Page