Chiara Picinelli - Publications

Chromosome 22q13 terminal deletion size is associated with relevant clinical features in a sample of 63 Italian patients with Phelan-McDermid syndrome.

Journal: Journal of neurodevelopmental disorders

Published: October 14, 2025

Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder.

Journal: Molecular genetics & genomic medicine

Published: October 10, 2022

RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder.

Journal: Scientific reports

Published: August 27, 2022

Yield of array-CGH analysis in Tunisian children with autism spectrum disorder.

Journal: Molecular genetics & genomic medicine

Published: July 29, 2021

FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family.

Journal: Molecular genetics & genomic medicine

Published: February 14, 2020

Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: October 15, 2019

Appropriateness of array-CGH in the ADHD clinics: A comparative study.

Journal: Genes, brain, and behavior

Published: October 03, 2019

Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.

Journal: Frontiers in genetics

Published: March 11, 2019

Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review.

Journal: Clinical genetics

Published: January 05, 2019

An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient.

Journal: Molecular syndromology

Published: May 25, 2018

Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: August 21, 2016

Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: March 03, 2016