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Daniela Rusconi

University of Milan

22

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326

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From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

2016 Human Mutation
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Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature

2015 American Journal of Medical Genetics Part A
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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

2015 Human Genetics
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Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

2015 Clinical Genetics
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Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients

2015 Clinical Genetics
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Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

2015 Molecular Cytogenetics
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Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome

2014 Human Reproduction
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Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations

2013 Journal of Neurology
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Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes

2013 Molecular Cytogenetics
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Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

2013 BMC Medical Genetics
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