Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder

Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction

(2022) Giulia Spoto et al.   Frontiers in Neurology

Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation

(2022) Inés Gracia‐Darder et al.   PEDIATRIC DERMATOLOGY

Targeting FGFR inhibition in cholangiocarcinoma

(2021) Lipika Goyal et al.   CANCER TREATMENT REVIEWS

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

(2020) Peter D. Stenson et al.   HUMAN GENETICS

Identification of common genetic risk variants for autism spectrum disorder

(2019) Jakob Grove et al.   NATURE GENETICS

Biomarkers in autism spectrum disorders: Current progress

(2019) Liming Shen et al.   CLINICA CHIMICA ACTA

OUP accepted manuscript

(2018)   BRAIN

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

(2017) Francesco Calì et al.   European Journal of Medical Genetics

Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis

(2017) Saïd C. Azoury et al.   International Journal of Biological Sciences

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

(2015) Kristiina Tammimies et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION