Jessie H. Conta
Seattle Children's Hospital(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities, Ethics in Clinical Research, Congenital heart defects research
Most-Cited Works
- → De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot(2009)402 cited
- → The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant(2015)185 cited
- → Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications(2013)75 cited
- → Improving the Value of Costly Genetic Reference Laboratory Testing With Active Utilization Management(2013)59 cited
- → Genetic testing utilization and the role of the laboratory genetic counselor(2013)38 cited
- → Preventing Genetic Testing Order Errors With a Laboratory Utilization Management Program(2016)29 cited
- → The current landscape of genetic test stewardship: A multi‐center prospective study(2021)20 cited
- → A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations(2014)18 cited
- Mowat-Wilson Syndrome(2013)
- → Adding value to genetic testing through utilization management: Commercial laboratory's experience(2017)11 cited