Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Stephanie Andriole

The Epidemic of Abnormal Copy Number Variant Cases Missed Because of Reliance Upon Noninvasive Prenatal Screening

Prenatal Diagnosis

English

Estimation of Baculovirus Titer by Β-Galactosidase Activity Assay of Virus Preparations

Molecular Biology

English

Related publications

Missed Diagnoses of Abnormal Copy Number Variant Cases: A National Epidemic or an Endemic at a Single Institution?

Prenatal Diagnosis

English

Clinical Utility of Noninvasive Prenatal Screening for Pathogenic Copy Number Variants

American Journal of Obstetrics and Gynecology

English

ACMG Statement on Noninvasive Prenatal Screening for Fetal Aneuploidy

Genetics in Medicine

English

Inferring Fetal Fractions From Read Heterozygosity Empowers the Noninvasive Prenatal Screening

Genetics in Medicine

English

Panel Sequencing for Clinically Oriented Variant Screening and Copy Number Detection in 142 Untreated Multiple Myeloma Patients

Blood Cancer Journal

English

Single-Cell Copy Number Variant Detection Reveals the Dynamics and Diversity of Adaptation

Molecular Biology

Biological Sciences

English

Screening for Chromosomal Abnormalities by First Trimester Combined Screening and Noninvasive Prenatal Testing

Ultraschall in der Medizin

Nuclear Medicine

English

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

American Journal of Human Genetics

English

Figure S3: Copy Number of STR Loci Between the Normal and Abnormal Tumor Marker Groups

English