Publication & Citation Trends
Publications
0 total
P398: Effects of Hurricane Maria and the COVID-19 pandemic on genetic testing at a diagnostic reference laboratory in Puerto Rico OA
Cited by 0
Semantic Scholar
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing OA
Cited by 9
Semantic Scholar
Abstract 5741: Highly specific copy number variant-flagging algorithm using next-generation sequencing in cancer-predisposition genes
Cited by 0
Semantic Scholar
Confined Placental Trisomy 18 Mosaicism Detected by Maternal Serum and Prenatal cfDNA Screening [21M]
Cited by 0
Semantic Scholar
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders OA
Cited by 62
Semantic Scholar
Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing. OA
Cited by 15
Semantic Scholar
Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene OA
Cited by 21
Semantic Scholar
Secondary Mutation (c.94_95delAG) in A −α3.7 Allele Associated with Hb H Disease in Two Unrelated African American Individuals Homozygous for the −α3.7 Deletion (−α3.7/−α3.7T)
Cited by 1
Semantic Scholar
AMERICAN TRANSPLANT CONGRESS 2012 ABSTRACTS OA
Cited by 1
Semantic Scholar
Research Topics
Hemoglobinopathies and Related Disorders
(3)
Prenatal Screening and Diagnostics
(3)
Autism Spectrum Disorder Research
(2)
BRCA gene mutations in cancer
(2)
Genetic factors in colorectal cancer
(2)
Affiliations
Quest Diagnostics (United Kingdom)
Quest Diagnostics (United States)