Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Ronald J. Wapner, Brynn Levy, Blake C. Ballif et al. · New England Journal of Medicine · 2012 · 1.4K citations · Full text

Chromosome instability is common in human cleavage-stage embryos

Evelyne Vanneste, Thierry Voet, Cédric Le Caignec et al. · Nature Medicine · 2009 · 888 citations

Chromatin, Chromosome Instability, Chromosome Dynamics +7

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Anthony R. Gregg, Brian G. Skotko, Judith Benkendorf et al. · Genetics in Medicine · 2016 · 688 citations · Full text

Genetic Testing, Prenatal Genetic Testing, Medicine +14

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

Menachem Fromer, Jennifer L. Moran, Kimberly Chambert et al. · The American Journal of Human Genetics · 2012 · 588 citations · Full text

Long-read Sequencing, Next-generation Sequencing, Genetics +11

DNA Sequencing Versus Standard Prenatal Aneuploidy Screening

Meredith Rochon · 2014 · 470 citations

Genetic Testing, Prenatal Genetic Testing, Genetics +8