Publication & Citation Trends
Publications
91 total
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change PDF
Cited by 121
OpenAlex
Molecular diagnostic experience of whole-exome sequencing in adult patients PDF
Cited by 239
OpenAlex
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Cited by 1,388
OpenAlex
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome PDF
Cited by 109
OpenAlex
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene
Cited by 76
OpenAlex
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders PDF
Cited by 1,960
OpenAlex
Research Topics
Genomics and Rare Diseases
(21)
Genetics and Neurodevelopmental Disorders
(10)
Muscle Physiology and Disorders
(9)
Cancer Genomics and Diagnostics
(9)
Genomic variations and chromosomal abnormalities
(8)
Affiliations
Texas A&M Health Science Center
United States Nuclear Regulatory Commission
Cedars-Sinai Medical Center
University of Minnesota
Mayo Clinic