Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

Detection of large-scale variation in the human genome

A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations

Medicine, Genetics, Computational Genomics +8

Large-Scale Copy Number Polymorphism in the Human Genome

Jonathan Sebat, B. Lakshmi, Jennifer Troge et al. · Science · 2004 · 2.6K citations

Haplotype Determination, Human Variation, Medicine +15

Retinoic Acid Embryopathy

Edward J. Lammer, Diane T. Chen, Richard M. Hoar et al. · New England Journal of Medicine · 1985 · 1.9K citations

Major Malformations, Developmental Biology, Retina +14

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Erich Roessler, Elena Belloni, Karin Gaudenz et al. · Nature Genetics · 1996 · 1.2K citations

Knockout Mouse, Developmental Biology, Genetic Disorder +3

THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY)

William DeMyer, Wolfgang Zeman, Catherine G. Palmer · PEDIATRICS · 1964 · 686 citations

Oculoplastics, Craniofacial Disorder, Neuroanatomy +14