Arlene Buller‐Burckle
Quest Diagnostics (United Kingdom)(GB)
Publications by Year
Research Areas
Hemoglobinopathies and Related Disorders, Prenatal Screening and Diagnostics, Autism Spectrum Disorder Research, BRCA gene mutations in cancer, Genetic factors in colorectal cancer
Most-Cited Works
- → Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening(2010)83 cited
- → A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders(2015)70 cited
- → Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene(2012)21 cited
- → Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing(2014)14 cited
- → Development and Validation of a 34‐Gene Inherited Cancer Predisposition Panel Using Next‐Generation Sequencing(2020)9 cited
- → Annotation error of a common β°‐thalassemia mutation (619 bp‐deletion) has implications for molecular diagnosis(2010)8 cited
- → The importance of β globin deletion analysis in the evaluation of patients with β thalassemia(2011)2 cited
- → Secondary Mutation (c.94_95delAG) in A −α3.7Allele Associated with Hb H Disease in Two Unrelated African American Individuals Homozygous for the −α3.7Deletion (−α3.7/−α3.7T)(2011)1 cited
- → Confined Placental Trisomy 18 Mosaicism Detected by Maternal Serum and Prenatal cfDNA Screening [21M](2017)
- → P398: Effects of Hurricane Maria and the COVID-19 pandemic on genetic testing at a diagnostic reference laboratory in Puerto Rico(2023)