G Pescia

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

Francis L. Munier, Elena Korvatska, Assia Djemaï et al. · Nature Genetics · 1997 · 608 citations

Kerato-epithelin Mutations, Ocular Pathology, Ophthalmology +1

Maternally inherited Leigh syndrome

Emma Ciafaloni, Filippo M. Santorelli, Sara Shanske et al. · The Journal of Pediatrics · 1993 · 99 citations

Down Syndrome, Mendelian Disorder, Genetic Disorder +5

Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases

G Pescia, Nicolas Guex, Christian Iseli et al. · Genetics in Medicine · 2016 · 98 citations · Full text

A family study of renal agenesis

C. O. Carter, K. Evans, G Pescia · Journal of Medical Genetics · 1979 · 91 citations · Full text

Renal Pathology, Reproductive Health, Neural Tube Malformation +25

A robust second‐generation genome‐wide test for fetal aneuploidy based on shotgun sequencing cell‐free DNA in maternal blood

Nicolas Guex, Christian Iseli, Argyro Syngelaki et al. · Prenatal Diagnosis · 2013 · 55 citations

Genetic Testing, Cytogenetics, Genetics +21