Arlene Buller‐Burckle

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

Feras Hantash, Dana G. Goos, David Tsao et al. · Genetics in Medicine · 2010 · 83 citations · Full text

Genetic Testing, Mendelian Disorder, Genetic Disorder +12

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

Izabela Karbassi, Glenn A. Maston, Angela Love et al. · Human Mutation · 2015 · 70 citations · Full text

Genetic Testing, Genetics, Polygenic Risk +20

Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene

Oksana Lekarev, K Tafuri, Andrew Lane et al. · Journal of Perinatology · 2012 · 21 citations

Adrenal Gland, Urology, Congenital Adrenal Hyperplasia +7

Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing

Lisa V. Kalman, Jack Tarleton, Alan K. Percy et al. · Journal of Molecular Diagnostics · 2014 · 14 citations · Full text

Genetic Testing, Mendelian Disorder, Genetic Disorder +11