Daniela Del Gaudio to Genetic Testing
This is a "connection" page, showing publications Daniela Del Gaudio has written about Genetic Testing.
Connection Strength
1.531
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Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes. Diabetes Res Clin Pract. 2021 May; 175:108798.
Score: 0.566
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Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. Mol Genet Metab. 2014 Dec; 113(4):315-320.
Score: 0.359
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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 12; 25(12):100947.
Score: 0.166
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CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 08; 22(8):1288-1295.
Score: 0.133
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Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 07; 22(7):1133-1141.
Score: 0.132
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
Score: 0.052
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Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders. Hum Mutat. 2022 07; 43(7):950-962.
Score: 0.038
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Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020 02; 22(2):336-344.
Score: 0.032
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Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA. J Clin Endocrinol Metab. 2018 01 01; 103(1):35-45.
Score: 0.028
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Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes. Leukemia. 2017 05; 31(5):1226-1229.
Score: 0.026