SHARON PLON to Genetic Diseases, Inborn
This is a "connection" page, showing publications SHARON PLON has written about Genetic Diseases, Inborn.
Connection Strength
1.519
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.380
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Genetic diagnosis through whole-exome sequencing. N Engl J Med. 2014 03 13; 370(11):1068.
Score: 0.337
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Implementation of a dyadic nomenclature for monogenic diseases. Am J Hum Genet. 2024 Sep 05; 111(9):1810-1818.
Score: 0.174
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.109
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.104
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.102
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ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 06 04; 372(23):2235-42.
Score: 0.092
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.088
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.
Score: 0.082
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Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms. Annu Rev Biomed Data Sci. 2024 Aug; 7(1):31-50.
Score: 0.043
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Cancer genetics--survey of primary care physicians' attitudes and practices. J Cancer Educ. 1997; 12(4):199-203.
Score: 0.006