JOHN BELMONT to Rare Diseases
This is a "connection" page, showing publications JOHN BELMONT has written about Rare Diseases.
Connection Strength
1.304
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Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet. 2019 12; 56(12):783-791.
Score: 0.523
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The impact of clinical genome sequencing in a global population with suspected rare genetic disease. Am J Hum Genet. 2024 07 11; 111(7):1271-1281.
Score: 0.187
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Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases. Genet Med. 2022 01; 24(1):109-118.
Score: 0.157
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The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic. Genome Med. 2020 05 27; 12(1):48.
Score: 0.141
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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell. 2019 03 21; 177(1):32-37.
Score: 0.130
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Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease. Genet Med. 2019 05; 21(5):1121-1130.
Score: 0.126
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Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet. 2022 09; 30(9):1017-1021.
Score: 0.040