Sandra Darilek

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

Ignatia B. Van den Veyver, Ankita Patel, Chad A. Shaw et al. · Prenatal Diagnosis · 2008 · 265 citations · Full text

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

Trilochan Sahoo, Sau Wai Cheung, Patricia A. Ward et al. · Genetics in Medicine · 2006 · 205 citations · Full text

Genetic Analysis, Genetic Testing, Prenatal Genetic Testing +9

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

J.S. Dungan, Susan Klugman, Sandra Darilek et al. · Genetics in Medicine · 2022 · 181 citations

Prenatal Genetic Testing, Medicine, Genetics +13

Phenotypic expansion in <i> <scp>DDX</scp> 3X </i> – a common cause of intellectual disability in females

Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld et al. · Annals of Clinical and Translational Neurology · 2018 · 86 citations · Full text

DNA sequence analysis of <i>GJB2</i>, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls

Hsiao‐Yuan Tang, Ping Fang, Patricia A. Ward et al. · American Journal of Medical Genetics Part A · 2006 · 67 citations · Full text

Genetics, Genetic Epidemiology, Pathology +20