List of works - Ornella Galesi

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

scientific article

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases

scientific article published in May 2006

A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

scientific article published on 25 September 2011

A t(4;9)(q34;p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism.

scientific article published in August 2005

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

scientific article published on 18 January 2019

Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation

scientific article published in April 2008

Brief report: peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome

scientific article published in October 2012

Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

article

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

scientific article published on 11 October 2013

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

scientific article

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome

scientific article published on May 2003

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

scientific article published on 17 January 2019

Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.

scientific article published on November 2005

Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.

scientific article published on 31 December 2007

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

scientific article published on 7 September 2018

Schizophrenia in a patient with subtelomeric duplication of chromosome 22q

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

scientific article published in September 2006

Three new patients with dup(17)(p11.2p11.2) without autism

scientific article published on 23 January 2008

List of works by Ornella Galesi