Helen White

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

Benjamin J. Hindson, Kevin D. Ness, Donald A Masquelier et al. · Analytical Chemistry · 2011 · 2.7K citations · Full text

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt et al. · The Lancet · 2019 · 694 citations · Full text

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Deborah Mackay, Jonathan L A Callaway, Sophie M Marks et al. · Nature Genetics · 2008 · 524 citations

Developmental Biology, Genetic Disorder, Multiple Imprinted Loci +7

Dual-color superresolution imaging of genetically expressed probes within individual adhesion complexes

Hari Shroff, Catherine G. Galbraith, James A. Galbraith et al. · Proceedings of the National Academy of Sciences · 2007 · 492 citations · Full text

Engineering, Microscopy, Cell Adhesion +18

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding.

P. A. Jacobs, C.E. Browne, N. Gregson et al. · Journal of Medical Genetics · 1992 · 416 citations · Full text

Developmental Anomaly, Moderate Levels, Neonatology +15