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Author Details

Agatino Battaglia
1990
109
39
PMIDPaper TitleJournal TitlePublished Year
36601988Seizures in trisomy 18: Prevalence, description, and treatment.Am J Med Genet A2023
36321570Further characterization of NFIB-associated phenotypes: Report of two new individuals.American Journal of Medical Genetics, Part A2023
36419830Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.Frontiers in Genetics2022
33760347Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals.American Journal of Medical Genetics, Part A2021
34002939The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology.American Journal of Medical Genetics, Part A2021
33949758Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study.American Journal of Medical Genetics, Part A2021
33982855Reflections on observing faces in art.American Journal of Medical Genetics, Part C: Seminars in Medical Genetics2021
34849274Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.J Pediatr Genet2020
32081867An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.Scientific Reports2020
31769173International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.Am J Med Genet A2020
32758449Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.Am J Hum Genet2020
31207089Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.Am J Med Genet A2019
31090057Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.Clin Genet2019
29477837A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome.Epilepsy and Behavior2018
29930110Analysis of shared heritability in common disorders of the brain.Science2018
30057029De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.Am J Hum Genet2018
30289612Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature.American Journal of Medical Genetics, Part A2018
27417655Lack of replication of previous autism spectrum disorder GWAS hits in European populations.Autism Res2017
27513709Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.American Journal of Medical Genetics, Part A2016
26747863Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.J Med Genet2016
26543203Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.J Med Genet2016
26239400Wolf-Hirschhorn syndrome: A review and update.American Journal of Medical Genetics, Part C: Seminars in Medical Genetics2015
25782667Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.Eur J Hum Genet2015
25271087Five children with deletions of 1p34.3 encompassing AGO1 and AGO3.Eur J Hum Genet2015
25655306Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.Am J Med Genet A2015
25903372Common and rare variants of microRNA genes in autism spectrum disorders.World J Biol Psychiatry2015
24737869Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.EMBO Molecular Medicine2014
25439729Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.Am J Hum Genet2014
25050139A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder.J Neurodev Disord2014
24768552Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.Am J Hum Genet2014
24800990Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.Am J Med Genet A2014
22178301Molecular biology of epilepsy genes.Experimental Neurology2013
23825019Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient.American Journal of Medical Genetics, Part A2013
23933821Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.Nat Genet2013
230693516p25 interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder.European Journal of Paediatric Neurology2013
23711909Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.European Journal of Paediatric Neurology2013
21996756A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.Hum Genet2012
22843504Individual common variants exert weak effects on the risk for autism spectrum disorders.Hum Mol Genet2012
22346768Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.PLoS Genet2012
22515830Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profile.American Journal on Intellectual and Developmental Disabilities2012
21150881Clinical utility gene card for: Wolf-Hirschhorn (4p-) syndrome.European Journal of Human Genetics2011
21465657Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith-Magenis syndrome by Vieira and colleagues.American Journal of Medical Genetics, Part A2011
20663923A genome-wide scan for common alleles affecting risk for autism.Hum Mol Genet2010
20844286Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.Sci Transl Med2010
20981774The behavioral phenotype of the idic(15) syndrome.American Journal of Medical Genetics, Part C: Seminars in Medical Genetics2010
20981770Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions.American Journal of Medical Genetics, Part C: Seminars in Medical Genetics2010
20981767Introduction: Behavioral phenotypes in neurogenetic syndromes.American Journal of Medical Genetics, Part C: Seminars in Medical Genetics2010
20678249Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.Mol Autism2010
20531469Functional impact of global rare copy number variation in autism spectrum disorders.Nature2010
19809473High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?European Journal of Human Genetics2010
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