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Silvia Genovese

Boston Children's Hospital

23

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115

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Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.

2020 American Journal of Medical Genetics Part A
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PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.

2020 American Journal of Medical Genetics Part A
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Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

2019 Molecular Genetics & Genomic Medicine
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A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

2019 Molecular Cytogenetics
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Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome

2019 Annals of Human Genetics
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An additional patient with a homozygous mutation in DCPS contributes to the delination of Al‐Raqad syndrome

2018 American Journal of Medical Genetics Part A
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Contents Vol. 151, 2017

2017 Cytogenetic and Genome Research
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Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization

2017 Cytogenetic and Genome Research
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Sometimes it is better to wait: First Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosis

2017 Oncology Letters
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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

2016 Orphanet Journal of Rare Diseases
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Citations (13)