Agatino Battaglia
A5044044440- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Genomics and Rare Diseases
- Congenital heart defects research
- Epilepsy research and treatment
- Fetal and Pediatric Neurological Disorders
- Neurological Disorders and Treatments
- Neuroscience and Neuropharmacology Research
- Genetic Syndromes and Imprinting
- Cholinesterase and Neurodegenerative Diseases
- Vestibular and auditory disorders
- Genomics and Chromatin Dynamics
- Chromatin Remodeling and Cancer
- Neurological Disease Mechanisms and Treatments
- Epigenetics and DNA Methylation
- Prostate Cancer Treatment and Research
- EEG and Brain-Computer Interfaces
- RNA regulation and disease
- RNA modifications and cancer
- Cancer Genomics and Diagnostics
- Metabolism and Genetic Disorders
- Hearing, Cochlea, Tinnitus, Genetics
Fondazione Stella Maris
2014-2024
University of Utah
2006-2020
University of South Dakota
2020
Center for Neurosciences
2017
Yale University
2017
University of British Columbia
2017
Universidad de Salamanca
2017
Hussman Institute for Autism
2017
University of California, San Francisco
2017
University of California, Los Angeles
2017
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known risk has been traced to rare variants, principally copy number variants (CNVs). To identify common variation, Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes association with ASD. In one four primary analyses, signal marker rs4141463, located within MACROD2, crossed genome-wide...
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental with complex inheritance pattern. While many rare variants in synaptic proteins have been identified patients ASD, little is known about their effects at the synapse and interactions other genetic variations. Here, following discovery two de novo SHANK2 deletions by Genome Project, we novel 421 kb deletion patient autism. We then sequenced 455 ASD 431 controls integrated these results those reported Berkel et al....
Deletion 1p36 syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion (1 in 5000 newborns). 1p36.3 deletions account for 0.5% 1.2% of idiopathic mental retardation; thus, knowledge about condition important pediatricians caring such patients. Despite 100 reported cases, little known its natural history. Our aim was delineate history deletion and develop complete accurate information with which answer families' questions clinical setting.We...
Background: Idiopathic Sudden Sensorineural Hearing Loss (ISSNHL), commonly defined as greater than 20 dB of unilateral hearing loss in at least 3 frequencies occurring within days, has a reported incidence 5 to per 100,000 patients year. Untreated, it recovery rate 32 65%. Although accepted therapy is high-dose prednisone taper (HDPT), recent publications suggest that intratympanic dexamethasone (IT-Dex) may improve recovery. Methods: This multicenter, double-blinded, placebo-controlled,...
Autism spectrum disorder (ASD) is a highly heritable of complex and heterogeneous aetiology. It primarily characterized by altered cognitive ability including impaired language communication skills fundamental deficits in social reciprocity. Despite some notable successes neuropsychiatric genetics, overall, the high heritability ASD (~90%) remains poorly explained common genetic risk variants. However, recent studies suggest that rare genomic variation, particular copy number may account for...
Autism is a common neurodevelopmental disorder with complex mode of inheritance. It one the most highly heritable disorders, although underlying genetic factors remain largely unknown. Here, we report mutations in X-chromosome PTCHD1 (patched-related) gene seven families autism spectrum (ASD) and three intellectual disability. A 167-kilobase microdeletion spanning exon 1 was found two brothers, ASD other learning disability features; 90-kilobase entire males second family. In 900 probands...
Abstract Wolf–Hirschhorn syndrome (WHS) is a well‐known multiple congenital anomalies/mental retardation syndrome, firstly described in 1961 by Cooper and Hirschhorn. Its frequency estimated as 1/50,000–1/20,000 births, with female predilection of 2:1. The disorder caused partial loss material from the distal portion short arm chromosome 4 (4p16.3), considered contiguous gene syndrome. No single deletions or intragenic mutations have been shown to confer full WHS phenotype. Since was brought...
We report on a clinical-genetic study of 16 Wolf-Hirschhorn syndrome (WHS) patients. Hemizygosity 4p16.3 was detected by conventional prometaphase chromosome analysis (11 patients) or molecular probes apparently normal chromosomes (4 patients). One patient had without detectable deletion within the WHS “critical region.” In each deleted patient, demonstrated to be terminal fluorescence in situ hybridization (FISH). The proximal breakpoint rearrangement established cases with visible...
Wolf-Hirschhorn syndrome (WHS) is a well-known chromosomal disorder attributable to partial deletion of the short arm chromosome 4 (4p-). Although about 120 cases have been reported so far, there still very little data on its natural history. Information given parents at time diagnosis tends be skewed extreme negative. To help delineate more thoroughly history WHS, and obtain better information answer parents' questions in clinical setting, we evaluated 15 patients (12 females, 3 males)...
SUMMARY The authors studied 10 patients (mean age 15 years 6 months) with localized developmental gyral disorder detected by MRI. There were two groups of major malformations. Seven (group 1) had unilateral ‘macrogyric‐like’ insulo‐opercular changes, one whom died early in life and extensive microgyria. six others mental retardation epilepsy, three focal neurological signs. Age at onset epilepsy varied greatly. Clinical arid EEG data suggested a wider cerebral involvement than recognized on...
<h3>Background</h3> <i>SOX11</i> is a transcription factor proposed to play role in brain development. The relevance of human developmental disorders was suggested by recent report mutations two patients with Coffin–Siris syndrome. Here we further investigate the variants neurodevelopmental disorders. <h3>Methods</h3> We used array based comparative genomic hybridisation and trio exome sequencing identify children intellectual disability who have deletions or de novo point disrupting...