Francesca Pasutto

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Francesca Pasutto, Heinrich Sticht, G. Hammersen et al. · The American Journal of Human Genetics · 2007 · 358 citations · Full text

Developmental Anomaly, Developmental Biology, Genetic Disorder +8

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

Jamie E. Craig, Xikun Han, Ayub Qassim et al. · Nature Genetics · 2020 · 339 citations · Full text

Genome-wide Association Study, Disease Susceptibility, Medicine +12

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Tomokazu Souma, Stuart W. Tompson, Benjamin R. Thomson et al. · Journal of Clinical Investigation · 2016 · 286 citations · Full text

Vestibular defects in head-tilt mice result from mutations in<i>Nox3</i>, encoding an NADPH oxidase

Rainer Paffenholz, Rebecca A. Bergstrom, Francesca Pasutto et al. · Genes & Development · 2004 · 264 citations · Full text

Experimental Biology, Nadph Oxidase, Genetics +23

Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

Benjamin R. Thomson, Tomokazu Souma, Stuart W. Tompson et al. · Journal of Clinical Investigation · 2017 · 196 citations · Full text

Ocular Disease, Schlemm ’, Cellular Physiology +18