Prenatal chromosomal microarray analysis in 2466 fetuses with ultrasonographic soft markers: a prospective cohort study

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs, Erica Andersen, Athena M. Cherry et al. · Genetics in Medicine · 2019 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Obstetrics +17

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Rita Shiang, Leslie M. Thompson, Yazhen Zhu et al. · Cell · 1994 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +13

Practice guidelines for performance of the routine mid‐trimester fetal ultrasound scan

L. J. Salomon, Žarko Alfirević, Vincenzo Berghella et al. · Ultrasound in Obstetrics and Gynecology · 2010 · 1K citations · Full text

Medicine, Gynecology, Obstetrics +10

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Francis Rousseau, Jacky Bonaventure, Laurence Legeai‐Mallet et al. · Nature · 1994 · 934 citations

Life Sciences, Genetics, Molecular Genetics +6