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Silvia Casadei

University of Washington

53

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5131

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Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy and enteropathy, and implications for clinical management

2021 The Journal of Allergy and Clinical Immunology
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Citations (3)
Genomic analysis of inherited hearing loss in the Palestinian population.

2020 Proceedings of the National Academy of Sciences of the United States of America
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Citations (9)
Genetics of schizophrenia in the South African Xhosa

2020 Science
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Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

2020 Clinical Genetics
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Characterization of splice-altering mutations in inherited predisposition to cancer.

2019 Proceedings of the National Academy of Sciences of the United States of America
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Whole exome sequencing identifies candidate genes associated with hereditary predisposition to uveal melanoma

2019 Ophthalmology
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Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1

2018 Proceedings of the National Academy of Sciences of the United States of America
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Citations (19)
A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing

2018 Blood
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Citations (15)
Inherited Breast Cancer in Nigerian Women

2018 Journal of Clinical Oncology
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Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance

2018 Genetics in Medicine
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Citations (17)