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Ornella Galesi

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
2011 · Maria Clara Bonaglia, Roberto Giorda, et al. · PLoS Genetics · 223
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
2018 · Lucilla Pizzo, Matthew Jensen, et al. · Genetics in Medicine · 189
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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
2001 · Elena Rossi, Flavia Piccini, et al. · Journal of Medical Genetics · 124
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
2013 · Janneke H M Schuurs-Hoeijmakers, Anneke T Vulto-van Silfhout, et al. · Journal of Medical Genetics · 119
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
2021 · Madelyn A. Gillentine, Tianyun Wang, et al. · Genome Medicine · 106
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1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features
2007 · A Alberti, C Romano, et al. · Clinical Genetics · 54
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
2019 · Hui Guo, Ying Li, et al. · Science Advances · 49
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6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases
2006 · Maurizio Elia, Pasquale Striano, et al. · Epilepsia · 49
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Schizophrenia in a patient with subtelomeric duplication of chromosome 22q
2007 · P Failla, C Romano, et al. · Clinical Genetics · 40
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
2023 · Corrine Smolen, Matthew Jensen, et al. · The American Journal of Human Genetics · 32
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder
2019 · Carmela Scuderi, Lucia Saccuzzo, et al. · European Journal of Human Genetics · 29
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How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation
2001 · EUGENIA BORGIONE, MARIANGELA LO GIUDICE, et al. · Journal of Medical Genetics · 25
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A de novo 8q22.2-24.3 duplication in a patient with mild phenotype
2011 · D. Concolino, M.A. Iembo, et al. · European Journal of Medical Genetics · 24
Narrowing the Candidate Region for Congenital Diaphragmatic Hernia in Chromosome 15q26: Contradictory Results
2005 · L. Castiglia, M. Fichera, et al. · The American Journal of Human Genetics · 22
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
2025 · Matthew Jensen, Corrine Smolen, et al. · Cell · 20
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
2021 · Ilaria Catusi, Maria Garzo, et al. · Genes · 20
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
2019 · Marco Fichera, Pinella Failla, et al. · Human Genetics · 18
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome
2014 · Daniela Di Benedetto, Sebastiano Antonino Musumeci, et al. · American Journal of Medical Genetics Part A · 17
A t(4;9)(q34;p22) Translocation Associated with Partial Epilepsy, Mental Retardation, and Dysmorphism
2005 · Pasquale Striano, Maurizio Elia, et al. · Epilepsia · 17
Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome ( SOX5 )
2020 · Giovanni Innella, Donatella Greco, et al. · American Journal of Medical Genetics Part A · 13
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Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation
2006 · Maria Antonietta Di Bella, Francesco Calì, et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 13
Partial monosomy Xq(Xq23→qter) and trisomy 4p(4p15.33→pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features
2008 · Arnaldo Bartocci, Pasquale Striano, et al. · Brain and Development · 12
Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome
2003 · Eugenia Borgione, Maurizio Sturnio, et al. · Human Mutation · 10
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation
2008 · Salvatore Grosso, Marco Fichera, et al. · Developmental Medicine & Child Neurology · 8
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Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes
2023 · Martina Miceli, Pinella Failla, et al. · Genes & Genomics · 7
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Works count: 46
Citation count: 1,265
H-index: 17
I10-index: 23
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