Elisa Merello
Genoa, Italy
Last Updated: 09/26/2026
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Found 23 publications
Whole exome sequencing identifies novel predisposing genes in neural tube defects.
Journal: Molecular genetics & genomic medicine
Published: June 19, 2018
Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization.
Journal: Human molecular genetics
Published: March 09, 2017
Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development.
Journal: European journal of human genetics : EJHG
Published: January 03, 2017
Rare deleterious variants in GRHL3 are associated with human spina bifida.
Journal: Human mutation
Published: December 30, 2016
Erratum to: Genetic Screening of Pediatric Cavernous Malformations.
Journal: Journal of molecular neuroscience : MN
Published: November 05, 2016
Moyamoya vasculopathy shows a genetic mutational gradient decreasing from East to West.
Journal: Journal of neurosurgical sciences
Published: October 28, 2016
Genetic Screening of Pediatric Cavernous Malformations.
Journal: Journal of molecular neuroscience : MN
Published: June 03, 2016
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Journal: BMC medical genetics
Published: May 25, 2016
Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma.
Journal: Birth defects research. Part A, Clinical and molecular teratology
Published: December 01, 2015
Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans.
Journal: Birth defects research. Part A, Clinical and molecular teratology
Published: June 04, 2015
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.
Journal: Human molecular genetics
Published: May 09, 2015
Loss-of-function de novo mutations play an important role in severe human neural tube defects.
Journal: Journal of medical genetics
Published: January 16, 2015
Last Updated: 09/26/2026